The Newborn Book

Significance of Physical Findings in the Neonate

Janelle L. Aby, MD

THE NEWBORN BOOK: Significance of Physical Findings in the Neonate

2014 by Janelle L. Aby
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REVIEWERS
Deborah Alcorn, MD
Associate Professor

Noelle Johnstone, MD
Pediatric Hospitalist

Pediatric Ophthalmology
Stanford University
Stanford, CA

Palo Alto Medical Foundation

Clinical Instructor

Department of Pediatrics
Stanford University
Stanford, CA

J. Christopher Austin, MD
Associate Professor

Juliann Lipps Kim, MD

Department Lead

Department of Urology
Pediatric Urology
Oregon Health & Science University
Portland, OR

Pediatric Hospitalist Program

Palo Alto Medical Foundation

Clinical Assistant Professor

Teresa Bahr, RN
Lecturer

Department of Pediatrics
Stanford University
Stanford, CA

San Francisco State University

School of Nursing
San Francisco, CA

Thomas G. McPartland, MD
Volunteer Clinical Instructor

William Benitz, MD
Professor

Department of Orthopedic Surgery

Robert Wood Johnson Medical School
New Brunswick, NJ

Department of Neonatal and Developmental

Medicine
Stanford University
Stanford, CA

Anna H. Messner, MD
Professor
Residency Director
Pediatric OHNS Program Director

Anthony E. Burgos, MD, MPH

General Pediatrics

Department of Otolaryngology and

Head & Neck Surgery
Stanford University
Stanford, CA

Kaiser Permanente Medical Center

Downey, CA

Renee Dursun, RN, BSN

Pediatric Staff Nurse

Lauri Mulvey, MD
Attending Physician

Shriners Hospital
Chicago, IL

Division of Ophthalmology
Childrens Hospital of Philadelphia
Philadelphia, PA

Yasser El-Sayed, MD
Professor and Director

Department of Maternal-Fetal Medicine &

Obstetrics
Stanford University
Stanford, CA

Pete Pellegrino, MD
General Pediatrics
Princeton Nassau Pediatrics
Princeton, NJ

Kimberly A. Horii, MD
Associate Professor

Carrie Anne Phillipi, MD, PhD

Associate Professor

Department of Pediatrics
Division of Dermatology
University of Missouri, Kansas City
Kansas City, MO

Department of Pediatrics
Oregon Health & Science University
Portland, OR

Jocelyn Huang Schiller, MD

Clinical Assistant Professor

Mary Gayle Sweet, MD

Assistant Professor

Department of Pediatrics
University of Michigan
Ann Arbor, MI

Department of Family Medicine

Virginia Tech
Carilion School of Medicine
Roanoke, VA

James E. Shander, MD
General Pediatrics

Aurora Medical Group

Courtesy Staff Physician
Childrens Hospital of Wisconsin in Milwaukee
Milwaukee, WI

PHOTO CONTRIBUTERS
American Association for Pediatric
Ophthalmology and Strabismus

Kimberly A. Horii, MD
Associate Professor

Department of Pediatrics
Division of Dermatology
University of Missouri, Kansas City
Kansas City, MO

JoDee Anderson, MD
Neonatology

Oregon Health & Science University

Portland, OR

Juin Yee Kong, MD

Fellow

J. Christopher Austin, MD
Associate Professor

Department of Neonatology-Perinatology
University of California, San Diego
San Diego, CA

Department of Urology
Pediatric Urology
Oregon Health & Science University
Portland, OR

Prashant Malhotra, MD
Associate Staff Physician

Pediatric Otolaryngology, Head and Neck Surgery

Head and Neck Institute
Cleveland Clinic Foundation
Cleveland, OH

Anthony E. Burgos, MD, MPH

General Pediatrics
Kaiser Permanente Medical Center
Downey, CA

Jane A. Morton, MD
General Pediatrics

David A. Clark, MD
Professor and Chairman

Burgess Pediatrics
Menlo Park, CA

Department of Pediatrics
Albany Medical College
Albany, NY

Auckland District Health Board

Newborn Services

Dermatology Journal Online

Auckland City Hospital

Auckland, New Zealand

Carly Heninger, MD
General Pediatrics

Department of Obstetrics &

Gynecology

Sea View Pediatrics

Staff Physician
CHOC at Mission Hospital
Mission Viejo, CA

Stanford University
Palo Alto, CA

Keely Olmsted, MD
Pediatric Hospitalist and Chair

Vivian Shih, MD
Fellow

Lisa Parnell, MD
General Pediatrics

Swiss Society of Neonatology

Pediatrix Medical Group

Antioch, CA

Department of Pediatric Nephrology

Lucile Packard Childrens Hospital
Palo Alto, CA

Moses Cone Hospital

Greensboro, NC

Bin Xia, MD
Associate Professor

Pete Pellegrino, MD
General Pediatrics

Department of Neonatology
West China Second University Hospital
Sichuan University
Sichuan, China

Princeton Nassau Pediatrics

Princeton, NJ

Randy Young, MD
Co-Chairman

Reeces Rainbow Adoption Ministry

Gaithersburg, MD

Disaster Medicine Division

Kaiser Permanente
San Diego, CA

Kristin Shadman, MD
Assistant Professor

Department of Pediatrics
School of Medicine and Public Health
University of Wisconsin
Madison, WI

Sujit Kumar Shrestha, MD

Resident Physician

Department of Pediatrics
Tribhuvan University Teaching Hospital
Maharajgunj, Nepal

INTRODUCTION
This is not an exhaustive reference. Rather, it is the book I wish I had owned for
the past twenty years, ever since I started seeing babies in the well newborn
nursery. I would have referred to it often.
This volume focuses on conditions that may be present in infants who are
admitted to a regular-care nursery or seen in a general pediatric clinic. Ive included
entities that are so common and benign that some may wonder at the need to
discuss them at all (fingernail scratches, for example) as well as conditions that are
so rare only a handful of case reports exist in the medical literature. Why? Because
in any given day, both types of conditions may present themselves to the health
care provider. Since awareness necessarily precedes recognition, and recognition
precedes correct diagnosis and management, my audacious hope is that this work
will ultimately improve the medical care we provide to this group of babies.
Ive purposely omitted conditions that fall exclusively into the realm of
neonatology. Gastroschisis, for example, which is often discussed along with
omphalocele, is notably absent here. Omphalocele is included because it can
occur in a rather well-appearing baby and might be confused with an umbilical
hernia. Gastroschisis, on the other hand, is unlikely to be confused with anything
else and would readily be recognized by a lay person as a serious problem. For this
same reason, I have only included photographs of late pre-term or term infants.
While it certainly would be very informative to see the appearance of some of
these conditions in extremely premature infants, that is not the focus here.
Ive also arranged the topics in an unconventional wayby body part. This
means discussion of the palmar grasp reflex will be found in the hand chapter
and not clustered together with the other primitive reflexes. My purpose is twofold. First, I want this volume to be useful for people at all levels of medical training
and practice. Although it can be academically useful to consider all neonatal
infectious diseases together, in actual practice it isnt. In the nursery or clinic, one
is simply presented with a baby who has a finding affecting some specific area.
Despite our wishes otherwise, babies do not come with tags declaring I have an
infectious disease or I have a genetic skin abnormality. We simply start with the
finding and then consider all the possible etiologies for what we see.
Second, in order to research the appropriate evaluation or treatment for a
given problem, we have to know its name. When looking at something weve
never previously encountered, its sometimes hard to know where or what to
start reading, or whom to consult. My hope is that this anatomically-oriented
organizational system will allow practitioners to search for physical findings
without knowing the names, and then find guidance for how to proceed.
Certainly, there are many additional entities that might legitimately be
included, but arent. Frankly, I just had to stop somewhere. And, since I wanted
this reference to include at least one photograph of the finding under discussion,

the diagnoses that made the cut were those that could be associated with some
sort of visual image, even if that image reflected a lack of visible abnormality
(prenatal testicular torsion, for example).
Hopefully, this current collection is just the beginning. There is so much more
to know! Despite the fact that medical science has expanded tremendously in
the last 300 years, relatively little attention has been given to physical findings in
infants, and even less to the specific group of babies highlighted here.

Janelle L. Aby, MD
October 2014

10

TABLE OF CONTENTS
Chapter 1

Prenatal Ultrasound
Ventriculomegaly.......................... 18
Choroid Plexus Cyst ..................... 22
Cavum Velum Interpositi ............. 25
Enlarged Cisterna Magna ............. 28
Absent Nasal Bone ....................... 33
Increased Nuchal Translucency ..... 37

Echogenic Intracardiac Focus ....... 40

Hyperechogenic Bowel ................. 43
Dilated Bowel .............................. 46
Pelviectasis.................................... 48
Short Femurs................................ 52

Chapter 2

General Characteristics
Appropriate For Gestational Age .. 56
Small For Gestational Age ............ 58
Large For Gestational Age ............ 62
Twins ........................................... 66
Discordant Twins ......................... 71
Vernix Caseosa ............................. 74
Meconium Staining ...................... 77

Acrocyanosis................................. 80
Perioral Cyanosis .......................... 83
Cyanosis ....................................... 87
Plethora........................................ 90
Jaundice ....................................... 94
Hypotonia .................................... 99

Chapter 3

Head

Hair Color ................................. 106

White Forelock........................... 108
Hair Whorls ............................... 111
Microcephaly ............................. 113
Macrocephaly ............................. 115
Fontanels .................................... 118
Sunken Fontanel ........................ 121
Bulging Fontanel ........................ 123
Molding ..................................... 125
Overriding Sutures ..................... 128

Caput Succedaneum................... 130

Cephalohematoma ..................... 132
Subgaleal Hemorrhage................ 135
Craniotabes ................................ 139
Congenital Skull Depression ...... 141
Bruising...................................... 145
Cephalocele ................................ 147
Scalp Electrode Site .................... 151
Vacuum Mark ............................ 154
Forceps Mark ............................. 156

11

Chapter 4

Eyes

Normal Eyes ............................... 162

Eye Asymmetry .......................... 166
Hypotelorism ............................. 169
Hypertelorism ............................ 171
Eyelid Edema ............................. 174
Ectropion ................................... 176
Eyelid Coloboma........................ 179
Dacryostenosis ........................... 182
Dacryocystocele.......................... 184
Epicanthal Folds ......................... 187

Conjunctivitis ............................ 190

Subconjunctival Hemorrhage ..... 193
Scleral Icterus ............................. 195
Blue Sclerae ................................ 199
Limbal Dermoid ........................ 201
Corneal Opacity ......................... 204
Leukocoria ................................. 207
Absent Red Reflex ...................... 210
Iris Coloboma ............................ 213
Unusual Eye Movements ............ 217

Chapter 5

Ears

Normal Ear ................................ 226

Ear Deformation ........................ 230
Microtia ..................................... 234
Low-Set Ear................................ 237

Posteriorly Rotated Ear ............... 240

Hypertrichosis Pinna .................. 243
Preauricular Pit........................... 244
Preauricular Tag.......................... 247

Chapter 6

Nose

Normal Nose .............................. 252

Positional Nasal Deformity......... 256
Nasal Septum Dislocation .......... 259
Nasal Hypoplasia........................ 262

Nasal Dermoid ........................... 265

Nasal Rim Defect ....................... 267
Choanal Atresia .......................... 269

Chapter 7

Jaw and Mouth

Mandibular Asymmetry ............. 274
Micrognathia.............................. 276
Asymmetric Crying Facies .......... 281
Facial Nerve Palsy ....................... 284
Rooting Reflex ........................... 289
Sucking Reflex ............................ 292
Sucking Callus ........................... 297
Cleft Lip..................................... 299
Median Alveolar Notch .............. 303
Gingival Cyst ............................. 304
Congenital Epulis ....................... 307
Eruption Cyst............................. 309

Natal Tooth ................................ 311

Sucking Pads .............................. 314
Ankyloglossia ............................. 316
Macroglossia............................... 319
Imperforate Whartons Duct....... 322
Epstein Pearls ............................. 325
Palatal Cysts ............................... 327
Thrush........................................ 329
Bifid Uvula ................................. 333
Cleft Palate ................................. 336
High Arched Palate .................... 340

12

Chapter 8

Neck

Excess Nuchal Skin .................... 346

Goiter ........................................ 348
Sternocleidomastoid Tumor of
Infancy ....................................... 352

Cystic Hygroma ......................... 355

Clavicle Fracture......................... 358

Chapter 9

Chest

Intercostal Retractions ................ 364

Skin Tag ..................................... 367
Supernumerary Nipple ............... 370
Widely Spaced Nipples............... 373
Breast Hypertrophy .................... 376
Witchs Milk............................... 378

Bloody Nipple Discharge ........... 380

Amastia ...................................... 382
Prominent Xiphoid .................... 386
Bifid Xiphoid ............................. 388
Cleft Sternum ............................ 390
Pectus Excavatum ....................... 393

Chapter 10

Abdomen
Linea Nigra ................................ 398
Diastasis Recti ............................ 399
Epigastric Hernia........................ 402

Umbilical Hernia ....................... 404

Prune Belly ................................. 408

Chapter 11

Umbilicus
Normal Cord ............................. 414
Cord Care .................................. 417
Meconium Staining .................... 419
Umbilical Vessel Coiling ............. 422
Two-Vessel Cord ........................ 425
Three-Vessel Cord ...................... 427
Four-Vessel Cord ........................ 429

Whartons Jelly Cyst ................... 432

Umbilical Cord Hematoma ........ 434
Umbilical Granuloma................. 437
Patent Urachus ........................... 439
Omphalitis ................................. 443
Omphalocele .............................. 447

13

Chapter 12

Genitalia
Normal Male Genitalia............... 452
Smegma ..................................... 454
Penile Pearl ................................. 455
Buried Penis ............................... 458
Webbed Penis ............................. 460
Penile Torsion............................. 463
Chordee ..................................... 466
Megameatus ............................... 468
Megalourethra ............................ 471
Hypospadias ............................... 474
Epispadias .................................. 478
Accessory Urethra ....................... 482
Hydrocele................................... 485

Inguinal Hernia .......................... 487

Undescended Testicle ................. 490
Ectopic Testicle........................... 494
Testicular Torsion ....................... 496
Ambiguous Genitalia.................. 499
Normal Female Genitalia ........... 504
Physiologic Vaginal Discharge .... 506
Vaginal Withdrawl Bleeding ....... 507
Hymenal Tag .............................. 510
Imperforate Hymen.................... 512
Paraurethral Cyst ........................ 515
Prolapsed Ectopic Ureterocele .... 518
Imperforate Anus ....................... 521

Chapter 13

Extremities
Moro Reflex ............................... 528
Asymmetric Tonic Neck Reflex... 532
Palmar Grasp Reflex ................... 535
Brachial Plexus Injury................. 539
Radial Longitudinal Dysplasia .... 542
Single Palmar Crease .................. 547
Brachydactyly ............................. 549
Syndactyly .................................. 553
Preaxial Polydactyly .................... 555
Central Polydactyly .................... 558
Postaxial Polydactyly................... 562
Clinodactyly ............................... 565
Breech Leg Posture ..................... 567

Hip Dysplasia............................. 571

Joint Contracture ....................... 575
Achondroplasia........................... 581
Positional Calcaneovalgus Foot ... 586
Tibial Bowing............................. 588
Rocker Bottom Foot................... 591
Clubfoot .................................... 594
Foot Edema ................................ 597
Underlapping Toes ..................... 600
Sandal Gap Deformity ............... 602
Stepping Reflex .......................... 605
Plantar Grasp Reflex ................... 608
Babinski Reflex........................... 611

Chapter 14

Back

Galant Reflex.............................. 616

Deviated Gluteal Crease ............. 618
Sacral Dimple............................. 620
Sacral Skin Tag ........................... 624

Sacral Hypertrichosis .................. 627

Lumbosacral Strawberry Nevus .. 629
Paraspinal Mass .......................... 632
Meningomyelocele ..................... 634

14

Chapter 15

Skin

Lanugo ....................................... 642

Hypertrichosis ............................ 644
Transient Hypermelanosis .......... 648
Caf Au Lait Spot ....................... 651
Congenital Melanocytic Nevus ... 654
Mongolian Spot ......................... 657
Nevus of Ito ............................... 660
Nevus of Ota .............................. 662
Phakomatosis
Pigmentovascularis ..................... 665
Port Wine Stain .......................... 670
Salmon Patch ............................. 674
Mottling ..................................... 677
Cutis Marmorata Telangiectatica
Congenita .................................. 682
Harlequin Color Change ............ 685
Neonatal Lupus .......................... 688
Cutis Aplasia .............................. 693
Subcutaneous Fat Necrosis ......... 698
Congenital Hemangioma ........... 701
Infantile Hemangioma ............... 704
Hemangiomatosis....................... 709
Blueberry Muffin Spots .............. 712
Purpura ...................................... 715

Petechiae .................................... 719

Bruising...................................... 722
Facial Bruising ............................ 726
Nevus Anemicus......................... 729
Nevus Depigmentosus ................ 732
Sebaceous Nevus ........................ 735
Epidermal Nevus ........................ 739
Smooth Muscle Hamartoma ...... 742
Sebaceous Hyperplasia................ 745
Milia .......................................... 746
Miliaria ...................................... 749
Neonatal Acne ............................ 752
Erythema Toxicum ..................... 755
Incontinentia Pigmenti............... 759
Sucking Blister ........................... 763
Epidermolysis Bullosa................. 766
Herpes Simplex Virus Infection .. 771
Transient Neonatal Pustular
Melanosis ................................... 778
Familial Cold Urticaria ............... 781
Physiologic Desquamation ......... 784
Ichthyosis ................................... 787
Fingernail Scratch Marks ............ 791

Chapter 16

Body Fluids & Substances

Regurgitated Colostrum ............. 796
Regurgitated Blood .................... 798
Bilious Emesis ............................ 801
Normal Urine............................. 803
Urate Crystals............................. 806

Vaginal Withdrawal Bleeding ..... 809

Meconium.................................. 811
Meconium Plug.......................... 814
Transitional Stool ....................... 817
Newborn Stool ........................... 819

Appendixes
Appendix A ................................ 824
Appendix B ................................ 826

Appendix C ................................ 827

Appendix D ............................... 828

Index .......................................... 833

15

Chapter 2

GENERAL

CHARACTERISTICS

56 The Newborn Book

APPROPRIATE FOR GESTATIONAL AGE

2

SYNONYMS

Average for gestational age

Eutrophic newborn

DEFINITION

An infant is considered appropriate for gestational age (AGA) when the birth weight
is between the 10th and 90th percentiles on a standard age-appropriate growth chart.
At 40 weeks, an infant who weighs between 2.7 kg4 kg (5 lb 14 oz8 lb 13 oz) falls
into this category. At 36 weeks, the AGA range is 2.1 kg3.3 kg (4 lb 10 oz7 lb 5 oz).

BACKGROUND

By definition, 80% of newborns will have a weight that is appropriate for gestational
age at birth. Because it is a normal finding, no predisposing factors have been identified.

PATHOPHYSIOLOGY

Normal in utero growth is a result of maternal, placental, and fetal factors working
together to allow adequate development of the infant.

DIFFERENTIAL DIAGNOSES
Measurement error
Incorrect gestational age

MANIFESTATIONS IN NEWBORN

An infant who is appropriate for gestational age normally has a body habitus that
is neither overly filled out nor slender. All of the newborns pictured on page 57
are appropriate for gestational age. Even though the actual weights vary, the body
proportions are similar for all these patients. The infant in the top photo was born at
40 weeks and weighed 3.1 kg (7 lbs).

RISK TO NEWBORN

There is no risk in being appropriate for gestational age. It is a normal finding.

RECOMMENDED MANAGEMENT

Parental reassurance regarding the range of sizes considered normal and appropriate
may be necessary.

BREASTFEEDING CONSIDERATIONS

For the normal newborn, initiation of breastfeeding should ideally begin within the
first hour of life. Frequent feedings (>8 times per day) with an adequate latch are
believed to be necessary to initiate normal lactation.

General Characteristics Appropriate For Gestational Age 57

Appropriate for gestational age (AGA) infants. Photos provided by parents.

REFERENCES
Olesson, J. 2011 The Newborn. In Nelson Textbook of Pediatrics, 19th ed. Philadelphia, PA:Saunders.

58 The Newborn Book

SMALL FOR GESTATIONAL AGE

2

SYNONYMS

Hypotrophic newborn

DEFINITION

An infant is generally considered small for gestational age (SGA) when the birth
weight is less than the 10th percentile on a standard age-appropriate growth chart. At
40 weeks, an infant with a birth weight of < 2.7 kg (5 lb 14 oz) would fall into this
category. At 36 weeks, an infant <2.1 kg (4 lb 10 oz) is SGA. Severe growth restriction
is defined by a weight that falls two standard deviations below the mean, or less than
the 3rd percentile.
An infant who is symmetrically SGA has a head circumference and length that is
proportional to the weight. In other words, the ponderal index (weight in grams x
100/length in cm) is normal even though the infant is small overall.
An infant who is asymmetrically SGA has a weight less than what would be
proportional to the length and head circumference. In this case, the infant appears
thin for size and the ponderal index is low.
Intrauterine growth retardation or restriction (IUGR) refers to in utero growth
that is less than expected. In some cases, infants designated as IUGR in utero will also
be SGA at birth, but the two conditions do not always coexist. The distinction seems
to be important. Infants with intrauterine growth restriction are more likely to have a
decreased capacity for normal growth and development and may have a permanently
altered metabolism.

BACKGROUND

By traditional definition, approximately 1 in 10 babies are small for gestational age.

An increased risk of small infant size is known to be associated with the following:
Maternal Diseases

Antenatal Findings

Maternal hypertension

Small placenta

Maternal preeclampsia

Placental infarcts

Maternal diabetes

Placental abruption

Maternal malaria

Multiple gestation

Environmental Influences

Neonatal Conditions

Maternal alcohol use

Chromosomal abnormalities

Maternal drug use

Congenital rubella infection

Maternal tobacco use

Congenital syphilis infection

Maternal medications

Congenital toxoplasmosis infection

Miscellaneous
High altitude
Other conditions

General Characteristics Small For Gestational Age 59

PATHOPHYSIOLOGY

Fetal growth can be restricted through multiple different pathways since growth
is determined by maternal, placental, and fetal factors. Maternal diabetes is often
associated with excessive infant growth but, if diabetic vascular disease is present,
placental blood flow may be impaired and lead to fetal growth restriction. Alcohol,
tobacco, and cocaine use can impact fetal growth by reducing maternal appetite, but
they can also have vascular effects on the placenta and direct toxic effects on the
developing fetus.
In addition to small size, restricted growth adversely affects glucose levels, hematocrit, and immune function in the infant. The tendency for early hypoglycemia is a result
of inadequate glycogen storage. Since the breakdown of glycogen through glycogenolysis is the primary source of glucose immediately after birth, adequate glycogen stores
are important. Polycythemia is thought to be a result of fetal hypoxemia stimulating
erythropoietin production and red blood cell formation. Impaired immune function is
related to decreased numbers neutrophils and of T and B lymphocytes. In addition to
low numbers at birth, the ability of T lymphocytes to proliferate seems to be reduced
throughout childhood, even though the absolute numbers eventually normalize.
Previously, it was believed that symmetrically SGA measurements were evidence of
poor growth relatively early in gestation, therefore putting these infants at higher risk
for problems. This theory is now being questioned. Some would argue that at least half
of the SGA infants with a normal ponderal index are constitutionally small, exhibiting
normal growth for their potential, and are therefore not at risk for the problems seen
in infants with impaired growth.

DIFFERENTIAL DIAGNOSES

Measurement error
Incorrect gestational age
Growth chart not reflective of racial or ethnic group

MANIFESTATIONS IN NEWBORN

Infants who are small for gestational age and have a low ponderal index (asymmetrically
SGA) tend to have a thin, sometimes emaciated, appearance. The skin may be dry and
relatively loose as a result of decreased subcutaneous tissue. The umbilical cord is
often thin. The face may have a wizened appearance, particularly in term and postterm SGA infants. The Moro reflex is often exaggerated; jitteriness and hypertonia are
frequently present, even in the absence of hypoglycemia.
Infants who are small for gestational age with a normal ponderal index (symmetrically
SGA) will appear proportionate but little.
The infants pictured on page 61 provide examples of mild and moderate growth
restriction. The infant in the first photo was born at 37 weeks weighing 2.2 kg (5
lbs) and is mildly affected. The overall appearance seems relatively normal, but
the extremities are less plump than expected for an infant of average weight. Look
particularly at the creases in the infants right thigh. The infant in the second photo is
more mature (39 weeks) but also more noticeably affected. Notice the prominent rib
shadows, the flat abdomen, the thin umbilical cord, and the thin extremities.

60 The Newborn Book

Physical examination should include assessment for dysmorphic features, cataracts,

hepatosplenomegaly, rash, or other abnormalities which may be associated with in
utero infection or chromosomal abnormality. Hypoglycemia may be associated with
low body temperature, jitteriness, or seizures. Polycythemia is frequently associated
with a ruddy or plethoric appearance. When polycythemia is severe enough to cause
impaired blood flow through the vessels (sludging), it may manifest as respiratory
distress, feeding intolerance, or seizures. Hypoglycemia and polycythemia may occur
in asymptomatic infants, so screening for these complications should be routine.

RISK TO NEWBORN

Hypoglycemia, hypothermia, polycythemia, and impaired immune function are

known complications for SGA infants. SGA infants also have higher rates of cesarean
section delivery, perinatal asphyxia, and perinatal mortality. Perinatal mortality occurs
in SGA infants (constitutionally small babies excluded) at 1020 times the rate
of appropriate for gestational age infants, mostly related to sequelae of hypoxia or
chromosomal abnormality.
Later in life, there is an increased risk of obesity, insulin resistance, type 2 diabetes,
dyslipidemia, hypertension, and ischemic heart disease. Learning problems, poor fine
motor coordination, attention deficit hyperactivity disorder (ADHD), and reduced
adult height and weight are also more common among those who were SGA at birth.

RECOMMENDED MANAGEMENT

Because the SGA infant has a large head-to-body ratio, a large body surface-to-mass
ratio, and little subcutaneous fat, rapid heat loss can occur. In order to prevent heat
loss, the newly born infant should be dried quickly and warmed with with skin-toskin contact, a radiant warmer, or blankets. Hypoglycemia is a known complication of
small birth size, so glucose screening should begin within the first 12 hours of life and
continue until the infant is 24 hours old. If hypoglycemia (glucose <2.2mmol/L or
40mg/dL) is present, oral feeding is indicated. For persistent or severe hypoglycemia
(glucose <1.9mmol/L or <35mg/dL), intravenous glucose may be necessary.
If the infant is premature or has birth asphyxia, screening for hypocalcemia starting
at 12 hours of life is also important. Calcium supplementation may be needed.
If the infant has other abnormal physical findings or symptoms, further evaluation
may be necessary. Evaluation of the placenta can be helpful. Testing the infant for
congenital infections (toxoplasmosis, syphilis, rubella, cytomegalovirus, herpes simplex
virus) or chromosomal abnormalities might be indicated. The question of whether
such testing should be done in infants who are SGA without other abnormalities
remains unanswered.
Supplementation with additional calories and protein has sometimes been
recommended in order to promote catch-up growth, but determination of the
optimal feeding regimen and targeted growth velocity is challenging. Catch-up growth
(accelerated growth velocity) is expected during the first 6 months to 2 years and is
associated with better long-term outcomes. Insufficient catch-up growth is associated
with short stature and psychosocial impairment. However, rapid weight gain in

General Characteristics Small For Gestational Age 61

Small-for-gestational-age (SGA) infants. Top: Minimally SGA infant at 37 weeks. Bottom: Moderately SGA infant at 39 weeks.

infancy is associated with hypertension and obesity in early adulthood. Therefore,

overly aggressive attempts to promote catch-up growth can lead to other problems.
At present, there are no specific recommendations regarding optimal catch-up growth
velocity for SGA infants.

BREASTFEEDING CONSIDERATIONS

Small-for-gestational-age babies do not need routine supplementation with formula.

Although colostrum levels of glucose are low, breastfed infants are known to have
higher levels of ketone bodies which provide an alternative energy source for the brain.
In addition, breastfeeding immediately after delivery (within 30 minutes of birth) is
believed to decrease the risk of hypoglycemia.

62 The Newborn Book

However, some maternal conditions associated with poor in utero growth for
the infant can also create breastfeeding challenges. In particular, cesarean delivery,
maternal obesity, and diabetes are associated with delayed lactogenesis. For these
mothers, the rapid increase in milk volume that normally occurs 23 days after delivery
may not occur until the infant is 610 days old. For the infants of these mothers,
supplementation with pasteurized, banked breast milk or formula is almost certainly
necessary. In addition, the mother should hand express and/or pump colostrum
frequently (at least 8 times per day) in order to optimize breast stimulation, improve
breast emptying, and collect as much maternal milk as possible for supplementation.

REFERENCES
Battaglia, F. C. 2003. Classification by Birthweight and Gestational Age. Neorev 4 (4):e91e93.
Battaglia, F. C., et al. 1967. A Practical Classification of Newborn Infants by Weight and Gestational Age. J Pediatr 71 (2):159163.
Chard, T., et al. 1992. Evidence of Growth Retardation in Neonates of Apparently Normal Weight. Euro J Obstet Gynecol Reprod Bio
45 (1):5962.
Committee Fetus and Newborn, AAP. 2011. Postnatal Glucose Homeostasis in Late-Preterm and Term Infants. Pediatr 127
(3):575579.
Cooley, S. M., et al. 2012. Ponderal Index (PI) vs. Birth Weight Centiles in the Low-Risk Primigravid Population: Which is the
Better Predictor of Fetal Wellbeing? J Obstet Gynaecol 32 (5):439443.
Das, U. G., et al. 2004 Abnormal Fetal Growth: Intrauterine Growth Retardation, Small for Gestational Age, Large for Gestational
Age. Pediatr Clin N Amer 51 (3):639654.
de Rooy, L., et al. 2002. Nutritional Factors that Affect the Postnatal Metabolic Adaptation of Full-Term Small- and Large-forGestational-Age Infants. Pediatr 109 (3):E42.
Eglash, A., et al. 2008. Breastfeeding. DM 54 (6):343411.
Lawrence, E.J. 2006. A Matter of Size: Part 1. Evaluating the Growth-Restricted Neonate. Adv Neonatal Care 6 (6):313322.
Maitra, A. 2009. Diseases of Infancy and Childhood. Robbins and Cotran Pathologic Basis of Disease, Professional Edition, 8th
edition. Philadephia, Pa: Saunders.
Mandy, G. T. 2012 Small for Gestational Age Newborn. UpToDate. www.uptodate.com (accessed 11/13/12).
Regnault, T. R. H., et al. 2001. Factors Influencing Fetal Growth. Neorev 2 (6):e119e127.
Saenger, P., et al. 2007 Small for Gestational Age: Short Stature and Beyond. Endo Rev 28 (2):219251.
Sifianou, P. 2006. Small and Growth-Restricted Babies: Drawing the Distinction. Acta Pdiatr, Int J Pduatr 95 (12):16201624.
Thureen, P. J., et al. 2001. The Small-for-Gestational Age Infant. Neorev 2 (6):e139e149.

LARGE FOR GESTATIONAL AGE

SYNONYMS

Hypertrophic newborn

DEFINITION

An infant is considered large for gestational age (LGA) when the birth weight is
greater than the 90th percentile on a standard age-appropriate growth chart. At 40
weeks, an infant with a birth weight of >4 kg (8 lb 13 oz) falls into this category. At 36
weeks, an infant with a birth weight of >3.3 kg (7 lb 5oz) is LGA.
Macrosomia indicates large body size that is unrelated to gestational age and is
used when the birth weight is >44.5 kg (8 lb 13 oz9 lb 14 oz). Although many term
infants who are LGA are also macrosomic, the two conditions do not always coexist.
Preterm LGA infants will rarely be large enough to be considered macrosomic.

General Characteristics Large For Gestational Age 63

BACKGROUND

By traditional definition, 1 in 10 babies is large for gestational age (LGA). In the

United States, approximately 8% of newborns have a birth weight of >4 kg (8 lb 13
oz at birth and 1% are >4.5 kg (9 lb 14 oz). An increased risk of large infant size is
known to be associated with the following:
Gender
Male infant
Race or Ethnicity
Indigenous people groups in United
States and Canada
Maternal Conditions
Maternal diabetes
Maternal obesity
Multiparous mother

Genetic Syndromes
Beckwith-Wiedemann syndrome
Sotos syndrome
Simpson-Golabi-Behmel syndrome
Weaver syndrome
Miscellaneous
Prolonged gestation
Macrosomia in sibling
Other conditions

Maternal weight gain >15.9 kg (35

lbs) during pregnancy

PATHOPHYSIOLOGY

Excessive fetal growth may be related to either genetic or nutritional factors, or both.
In the case of maternal diabetes, chronic fetal hyperglycemia and hyperinsulinemia are
thought to be the primary factors impacting somatic growth in utero (the Pedersen
hypothesis). Insulin is known to have potent effects on growth, particularly of insulinsensitive tissues such as fat, skeletal muscle, and cardiac muscle. Insulin-like growth
factors are also thought to play a role; various authors have reported correlations
between IGF-I or IGF-II levels and maternal diabetes or Beckwith-Wiedemann
syndrome.
Hyperinsulinemia is even seen in LGA babies born to non-diabetic mothers.
Infants with an HNF4A gene mutation are part of this group. The HNF4A gene is
associated with maturity-onset diabetes of the young.
Whatever the cause of hyperinsulinemia in the fetus, when the glucose supply from
the placenta is abruptly cut off at birth, an overproduction of endogenous insulin in
the newborn (greater than needed to control the endogenous glucose supply) causes
the glucose level to drop. Normal negative feedback mechanisms will eventually bring
insulin and glucose levels into balance, but this may take some time.
The polycythemia that is seen in some LGA infants is thought to result from
fetal hypoxemia stimulating erythropoietin production and increasing red blood cell
formation.

64 The Newborn Book

DIFFERENTIAL DIAGNOSES
2

Measurement error
Incorrect gestational age
Growth chart not reflective of racial or ethnic group

MANIFESTATIONS IN NEWBORN

Infants who are large for gestational age tend to have a plump, stocky appearance.
Physical examination should include assessment for large fontanels, hypertelorism,
macroglossia, low set ears, muscular hypertrophy, hypotonia, supernumerary nipples,
hepatosplenomegaly, umbilical hernia, omphalocele, inguinal hernia, undescended
testicle, or polydactyly which may be associated with Beckwith-Wiedemann or other
overgrowth syndrome.
Hypoglycemia may be associated with low body temperature, jitteriness, or
seizures. Polycythemia is frequently associated with a ruddy or plethoric appearance.
When polycythemia is severe enough to cause impaired blood flow through the vessels
(sludging), it may manifest as respiratory distress, feeding intolerance, or seizures.
Hypoglycemia and polycythemia may occur in asymptomatic infants, so screening for
these complications should be routine.
The most common birth injuries for LGA babies are clavicular fracture and brachial
plexus injury. Clavicular fracture often causes swelling or crepitus over the affected
bone. Brachial plexus injury is manifest by an abnormal arm position and decreased
arm movement on the affected side.
The first infant shown on page 65 was born at term weighing 5.3 kg (11 lb 13 oz)
to a mother with gestational diabetes; the second infant was born at 36 weeks to a
non-diabetic mother and weighed 5.5 kg (12 lb 3 oz). In both cases, there is a plump
appearance of the neck, trunk, and extremities.

RISK TO NEWBORN

Hypoglycemia, polycythemia, hyperbilirubinemia and birth injury (bruising, fracture,

brachial plexus injury) are known complications of macrosomia. Hypoglycemia has
been noted in 2%5% of LGA infants compared with 1% of normal weight infants
of non-diabetic mothers.
Risk of clavicular fracture and brachial plexus injury is higher for LGA babies than
it is for AGA or SGA infants. Risk of cesarean delivery, respiratory distress syndrome,
meconium aspiration, and the need for mechanical ventilation for more than 30
minutes is also increased. LGA infants who are >4.5 kg (9 lb 14 oz) also have higher
rates of perinatal asphyxia (evidenced by low Apgar scores) and perinatal mortality
rates. In one retrospective study, an increased incidence of adrenal hemorrhage was
associated with birth weight >4 kg (8 lb 13 oz). A propensity to adult obesity is also
associated with large infant size.

General Characteristics Large For Gestational Age 65

Large for gestational age newborns. Top: Moderately LGA infant at 40 weeks. Bottom: Severely LGA infant at 36 weeks.

RECOMMENDED MANAGEMENT

Because hypoglycemia is a known complication of large birth size, glucose screening

should start within the first 12 hours of life and continue until the infant is 24 hours
old. If hypoglycemia (glucose <2.2mmol/L or <40mg/dL) is present, oral feeding is
indicated. For persistent or severe hypoglycemia (glucose <1.9mmol/L or <35mg/dL),
intravenous glucose may be necessary.
If the infant is premature or has birth asphyxia, screening for hypocalcemia starting
at 12 hours of life is also important. Calcium supplementation may be needed.

66 The Newborn Book

BREASTFEEDING CONSIDERATIONS
2

Large-for-gestational-age babies do not need routine supplementation with formula.

Although colostrum levels of glucose are low, breastfed infants are known to have
higher levels of ketone bodies which provide an alternative energy source for the brain.
One prospective study of 84 infants found that breastfeeding in the delivery room
(within 30 minutes of birth) significantly decreased the incidence of hypoglycemia in
infants of diabetic mothers when compared with either early formula feeding (in the
delivery room) or delayed breastfeeding (2 hours after birth).
However, some maternal conditions associated with excessive in utero growth for
the infant can also create breastfeeding challenges. In particular, cesarean delivery,
maternal obesity, and diabetes are associated with delayed lactogenesis. For these
mothers, the rapid increase in milk volume that normally occurs 23 days after
delivery may not occur until the infant is 610 days old. For the infants of these
mothers supplementation with pasteurized, banked breast milk or formula is almost
certainly necessary. In addition, the mother should pump or hand express colostrum
frequently (at least 8 times per day) in order to optimize breast stimulation, improve
breast emptying, and collect as much maternal milk as possible for supplementation.

REFERENCES
Akinbi, H. T., et al. 1995. Macrosomic Infants of Non-Diabetic Mothers and Elevated C-peptide Levels in Cord Blood. J Pediatr
127 (3):481484.
Chertok, I.R. 2009. Effects of Early Breastfeeding on Neonatal Glucose Levels of Term Infants Born to Women with Gestational
Diabetes. J Hum Nutr Diet 22 (2):166169.
Committee Fetus and Newborn, AAP. 2011. Postnatal Glucose Homeostasis in Late-Preterm and Term Infants. Pediatr 127 (3):575579.
Das, U. G., et al. 2004. Abnormal Fetal Growth: Intrauterine Growth Retardation, Small for Gestational Age, Large for Gestational
Age. Pediatr Clin N Amer 51 (3):639654.
de Rooy, L., et al. 2002 Nutritional Factors that Affect the Postnatal Metabolic Adaptation of Full-Term Small- and Large-forGestational-Age Infants. Pediatr 109 (3):E42.
Groenendaal, F., et al. 2006 Hypoglycaemia and Seizures in Large-for-Gestational-Age (LGA) Full-Term Neonates. Acta Paediatr 95
(7):874876.
Gyurkovits, Z., et al. 2011. Neonatal Outcome of Macrosomic Infants: An Analysis of a Two-Year Period. Euro J Obstet Gynecol
Reprod Bio 159 (2):289292.
Lawrence, E. J. 2007. A Matter of Size: Part 2. Evaluating the Large-for-Gestational-Age Neonate. Adv Neonatal Care 7 (4):187197.
Mandy, G. T. 2012. Large-for-Gestational-Age Newborn. UpToDate. www.uptodate.com (accessed 11/13/12).
Sayers, S. M. 2009. Indigenous Newborn Care. Pediatr Clin N Amer 56 (6):12431261.
Verge, C. F., et al. 2010. Overgrowth. Arch Dis Child 95 (6):458463.

TWINS
SYNONYMS

Multiple birth
Multiples

DEFINITION

When two infants develop simultaneously in utero, they are known as twins.

General Characteristics Twins 67

BACKGROUND

Overall twins are present in 1.3% of births, but rates vary. In the United States, for
example, twins now account for more than 3% of births. Worldwide, the highest rate
of twinning is in sub-Saharan Africa. Factors that are known to be associated with
twin pregnancies include the following:
Maternal Conditions

Miscellaneous

Advanced maternal age

Infertility treatment

Multiparous mother

Family history of twins

Maternal BMI >30

Maternal height >164 cm

PATHOPHYSIOLOGY

Dizygotic (non-identical) twins are believed to be the result of two oocytes being
released from the ovary during the same menstrual cycle (polyovulation). The two
oocytes are then fertilized by two sperm, creating two separate ova. When this occurs
naturally, higher levels of serum gonadotropins are believed to be responsible. This
is the same process by which hormonal induction of ovulation occurs. A genetic
mutation on chromosome 3 has also been correlated with dizygotic twinning.
Monozygotic (identical) twins are believed to be the result of one ovum splitting
early in development, creating two embryos. One hypothesis is that a teratogenic
event is responsible. Another hypothesis suggests that a reduction in calcium ions,
which are necessary for normal cell adhesion, leads to the monozygotic twinning that
is seen with in vitro fertilization. Composition of culture fluids and length of exposure
are thought to be contributing factors.
The chorion is the outer membrane surrounding the embryo and amniotic fluid.
It is vascularized, has villi, and forms the fetal portion of the placenta. The amnion
(amniotic sac) is the inner membrane surrounding the embryo and amniotic fluid.
When there is only one chorion for both babies, the developing twins are always
monozygotic. When there are two chorions and two amnions, the twins are usually
dizygotic, but not always. If separation of the zygote occurs within the first two days of
fertilization, monozygotic twins can have separate chorions. A dichorionic diamniotic
arrangement of membranes is the most common, since it is present in all dizygotic
twins and some monozygotic twins. The least common arrangement of membranes,
occurring in only 1% of twin pregnancies, is that of one chorion and one amnion
which is shared by both twins. Conjoined twins always have this arrangement, but
non-conjoined identical twins may also be monochorionic monoamniotic.

DIFFERENTIAL DIAGNOSIS
None

68 The Newborn Book

MANIFESTATIONS IN NEWBORN
2

Twins are more likely than singletons to be born before 37 weeks of gestation, to
have low birth weight, and to have congenital anomalies. In particular, respiratory
distress, temperature instability, poor feeding, and jaundice are common problems
of small and preterm infants. Cyanosis, tachypnea, poor perfusion, an unusual heart
murmur, or heart sounds that are maximal in the right chest are signs related to cardiac
disease. Pallor due to anemia or plethora due to polycythemia may be related to twintwin transfusion syndrome or to another underlying problem (prematurity, growth
restriction, in utero infection, etc). In the twin pair pictured on page 69, notice the
difference in color between the two siblings. Although neither would be described
as plethoric or pale, the twin on the right side is somewhat pinker than the twin
on the left. Deformations such as unusual head molding (positional plagiocephaly),
bowing of the limbs, and clubfeet are also rather common in twins, presumably due
to a constrained in utero environment.
The determination of monozygotic (identical) or dizygotic (non-identical/fraternal)
status of twins cannot be reliably determined based on appearance. If the gender of
the newborns is different, the twins are definitely dizygotic, but if the gender is the
same, the determination is more difficult. Only 37% of same-sex twins are identical.
Knowledge of the arrangement of placental membranes can help to some degree. All
spontaneously conceived monochorionic twins are presumed to be identical, though
rare exceptions do occur.
An important note: The designation of twin A and twin B may be different in
utero than after birth. In utero, baby A is the one who is positioned lower in the
womb. At birth, baby A is the one born first. Clarification is important, since fetal
anomalies requiring further evaluation may be present in one and not the other. Some
hospitals are now abandoning the practice of designation based on birth order and
using only the prenatal designation to avoid this confusion.

RISK TO NEWBORN

Twins are more likely than singletons to be born prematurely, small for gestational
age, or with a congenital abnormality. Approximately 1 in 10 twins have a congenital
anomaly. Compared with singletons, twins also have higher rates of velamentous
cord attachment, developmental hip dysplasia, and congenital hypothyroidism.
Monozygotic (identical) twins have an increased risk of congenital heart disease
and twin-to-twin transfusion syndrome. Monochorionic monoamniotic twins are
uniquely at risk for cord entanglement and twin interlocking during delivery.
The increased infant mortality seen in twins is primarily due to the underlying
factors that are more common in multiple birthsprematurity, growth restriction,
and congenital anomalies.

RECOMMENDED MANAGEMENT

Screening for hypoglycemia is recommended for both preterm and small-forgestational-age infants, and is therefore likely to be indicated for most twins.
Hematocrits should be checked on both babies to screen for polycythemia and anemia.

General Characteristics Twins 69

Both infants should be thoroughly evaluated for congenital malformations, since
such problems are more common in twins than in singletons. Examining the twins
next to each other is usefuldiscordance in size, color, facial appearance, or other
characteristic should raise concerns for an underlying problem. A careful hip exam
should be done at birth and at each well-child visit until walking is well established.
For female infants born in a breech position, a hip ultrasound at 6 weeks of age is
often recommended.

Twins at 38 weeks gestational age.

A careful cardiac examination is necessary for all, but monochorionic twins in

particular have a significantly increased risk of heart disease (7%57%, depending
on whether the twins have two amniotic sacs or one). If one twin has known cardiac
disease, the other has a 25% chance of also having a cardiac condition. Screening with
fetal echocardiogram has been recommended for twins who are at high risk of cardiac
anomalies (monochorionic twins, twins with discordant nuchal translucencies, or
twins with twin-twin transfusion syndrome). No recommendations have been made
for newborns in these categories that did not have a fetal echocardiogram. However,
a postnatal echocardiogram seems reasonable if the infant is symptomatic, has a
sibling with cardiac disease, is known to be a twin-twin transfusion recipient, or is a
monochorionic monoamniotic twin.
Zygosity testing will be needed for same sex, dichorionic twins if having such
information is important. Benefits of knowing this information with certainty include
the ability to provide better disease counseling regarding risk for one twin when the
other has a medical diagnosis.

70 The Newborn Book

In the case of same-sex twins, a repeat screening for congenital hypothyroidism

should be considered at 2 weeks of life. Although uncommon in general, false negative
tests for congenital hypothyroidism on the newborn screen are more common in twins
(especially monozygotic twins) than in singletons. This is presumably due to placental
blood sharing between the affected and the unaffected twin, causing an initially lower
thyroid stimulating hormone (TSH) level in the affected twin.
The need for further evaluation will depend on whether other problems are present.
Consultation with a neonatologist is recommended if appropriate management of an
individual set of twins is uncertain.

BREASTFEEDING CONSIDERATIONS

The birth of twins poses some unique challenges for the breastfeeding mother. Not
only is it a time- and energy-intensive effort to feed two babies, but because many twins
are born prematurely or with low birth weight, they may not have the coordination or
stamina to feed well. Frequent expression of breast milk (>8 times per day) with hands
or breast pump in addition to direct breastfeeding may be necessary both to provide
adequate stimulation for ongoing lactation and to collect milk that can be provided
to the babies. Even infants who appear to be feeding well may not have adequate milk
transfer, so weights should be monitored until steady gains are observed. Skin-to-skin
contact between the mother and the infants should be encouraged whenever possible,
especially for infants who are not feeding well. Consultation with a lactation specialist
may be indicated.
It is helpful to initiate breastfeeding by feeding one infant at a time, in order to assess
the ability of each infant to latch and nurse effectively. Once feeding is progressing
smoothly, tandem (simultaneous) feedings are used by many mothers of twins in order
to increase the efficiency of breastfeeding.

REFERENCES
Azam, A., et al. 2012. Missed Congenital Hypothyroidism in an Identical Twin. J Pdiatr Child Health 48 (10):936938.
Benirschke, K. 2008. Multiple Gestation: The Biology of Twinning. Creasy and Resniks Maternal-Fetal Medicine, 6th ed.
Philadephia, Pa: Saunders.
Eserdag, S., et al. 2010. Cord Entanglement in Monochorionic Monoamniotic Twins. Bratis Med J 111 (12):673-675.
Gromada, K. K., et al. 1998. Breastfeeding Twins and Higher Order Multiples. J Obstet Gynecol Neonatal Nurs 27 (4):441449.
Hoekstra, C., et al. 2008. Dizygotic Twinning. Human Reprod Update14 (1):3747.
Mandy, G. T. 2012. Neonatal Outcome, Complications, and Management of Multiple Births. UpToDate. www.uptodate.com
(accessed 11/25/12).
Newman, R., et al. 2012. Multiple Gestations. Obstetrics: Normal and Problem Pregnancies, 6th edition. Philadephia, Pa:Saunders.
Samanich, J., 2009. Health Care Supervision for Twin Pairs. Amer J Med Genet Part C Semin Med Genet 151C:162166.
Santaloya, J., et al. 2012 TwinsTwice More Trouble? Clin Obstet Gynecol 55 (1):296306.
Shipmen, S. A., et al. 2006. Screening for Developmental Dysplasia of the Hip: Systematic Literature Review for the US Preventative
Services Task Force. Pediatr 117 (3):e557e576.

General Characteristics Discordant Twins 71

DISCORDANT TWINS
SYNONYMS

Discordant growth

DEFINITION

There is some controversy about the exact definition of discordant twins. In general,
though, discordant size refers to twins (or higher-order multiples) whose birth weights
are dissimilar by 15%25% or more.
The degree of discordance is calculated by the following equation:
100 x (weight of larger twin weight of smaller twin) weight of larger twin = % discordant.

BACKGROUND

Discordant birth weights are noted in as many as 30% of twin births, depending on
the population studied. Sixteen percent have birth weights that differ by 20%, and
5% have differences 30%. Factors that are known to be associated with discordant
size between twins include the following:
Antenatal Findings

Neonatal Conditions

Monochorionic twins

Opposite sex twins

Uneven placental sharing

Twin-twin transfusion syndrome

Velamentous cord insertion

Chromosomal or structural anomalies

in one twin

Placental vascular anastomoses

Discordant manifestation of in utero

infection
Constitutional variance between
individuals / differences in genetic
potential
Gestational age <37 weeks
Low birth weight

PATHOPHYSIOLOGY

In the case of twin-to-twin transfusion syndrome, vascular anastomosis within the

placenta leads to unbalanced blood shunting from one twin to the other. This causes
growth restriction of the donor twin. Uneven placental sharing impairs growth by
limiting the placental mass that is available to supply nutrients.
Chromosomal or structural anomalies cause discordant size by limiting growth in
the affected twin while the unaffected one develops normally.

DIFFERENTIAL DIAGNOSIS
Measurement error

72 The Newborn Book

MANIFESTATIONS IN NEWBORN
2

The diagnosis of discordance is based on birth weight, not appearance. However, as

the difference in weight becomes greater, the physical differences between the siblings
are more easily identified on physical examination. The twins in the first photo are
discordant, but still fairly similar in overall appearance. The twins in the second photo
are more noticeably discordant and had a 1 kg (30%) difference in birth weight.
Notice also that this pair has some difference in color, with the smaller twin appearing
ruddier than the larger one. Even if twin-to-twin transfusion is not a concern, other
factors may lead to polycythemia or anemia.

Mildly discordant twins.

General Characteristics Discordant Twins 73

Moderately discordant twins. The weight difference between the two was almost 30%.

RISK TO NEWBORN

An increased risk of neonatal death is associated with discordant size. In cases where
the birth weights differ by 30%, the mortality rate of at least one of the twins is more
than 4%.
In cases where the discordance is 20%, there is an increased risk of neonatal
acidosis, respiratory distress syndrome, and admission to an intensive care unit.

74 The Newborn Book

RECOMMENDED MANAGEMENT
2

Both infants should be thoroughly evaluated for signs of congenital malformations,

infections, or genetic conditions that may impact growth. Screening for hypoglycemia
is recommended for both preterm and small-for-gestational-age infants, and is
therefore likely to be indicated for discordant twins. A hematocrit should be checked
on both babies to screen for polycythemia and anemia.
The need for further evaluation will depend on whether other problems are present.
Consultation with a neonatologist is recommended if appropriate management of an
individual set of twins is uncertain.

BREASTFEEDING CONSIDERATIONS

The birth of twins poses some unique challenges for the breastfeeding mother. Not
only is it a time- and energy-intensive effort to feed two babies, but because many twins
are born prematurely or with low birth weight, they may not have the coordination or
stamina to feed well. Frequent expression of breast milk (>8 times per day) with hands
or breast pump in addition to direct breastfeeding may be necessary both to provide
adequate stimulation for ongoing lactation and to collect milk that can be provided
to the babies. Even infants who appear to be feeding well may not have adequate milk
transfer, so weights should be monitored until steady gains are observed. Twins may
also have different caloric needsa good feeding plan will be individualized for each
one. Skin-to-skin contact between the mother and the infants should be encouraged
whenever possible, especially for infants who are not feeding well. Consultation with
a lactation specialist may be indicated.
It is helpful to initiate breastfeeding by feeding one infant at a time, in order to assess
the ability of each infant to latch and nurse effectively. Once feeding is progressing
more smoothly, tandem (simultaneous) feedings are used by many mothers of twins
in order to increase the efficiency of breastfeeding.

REFERENCES
Cleary-Goldman, J., et al. 2008. Growth Abnormalities and Multiple Gestations. Semin Perinatol 32 (3):206212.
Frezza, S., et al. 2011. Is Growth-Discordance in Twins a Substantial Risk Factor in Adverse Neonatal Outcomes? Twin Res Human
Genet 14 (5):463467.
Gromada, K. K., et al. 1998. Breastfeeding Twins and Higher Order Multiples. J Obstet Gynecol Neonatal Nurs 27 (4):441449.
Habli, M., et al. 2009. Twin-to-Twin Transfusion Syndrome: A Comprehensive Update. Clin Perinatol 36 (2):391416.
Mandy, G.T. 2012. Neonatal Outcome, Complications, and Management of Multiple Births. UpToDate. www.uptodate.com
(accessed 11/24/12).
Miller, J., et al. 2012. Discordant Twins: Diagnosis, Evaluation and Management. Am J Obstet Gynecol 206 (1):1020.
Samanich, J. 2009 Health Care Supervision for Twin Pairs. Amer J Med Genet Part C Semin Med Genet 151C:162166.

VERNIX CASEOSA
SYNONYMS
None.

DEFINITION

Vernix caseosa is a creamy white substance that is present to varying degrees on the
skin at birth.

General Characteristics Vernix Caseosa 75

BACKGROUND

The likelihood that large amounts of vernix caseosa will be noted in a newborn depends
on characteristics of the baby as well as the mode of delivery. Factors known to be
associated with increased vernix include the following:
Delivery Condition

Gender
Female infant

Cesarean section delivery

Race or Ethnicity
Caucasian ethnicity (as compared with
African American)

Neonatal Characteristic
Gestational age between 33 and 37
weeks

PATHOPHYSIOLOGY

Vernix caseosa is proteolipid biofilm composed of sebum, keratin, and hair produced,
in part, by the sebaceous glands of the fetus during the third trimester of pregnancy.
Its composition is 81% water, 9% lipid, and 10% protein. It is interesting that of
the 41 proteins identified in vernix, 25 are not encountered anywhere else in human
biology. Almost 40% of the proteins identified are components of innate immunity
and 29% have antimicrobial properties.

DIFFERENTIAL DIAGNOSIS
Topically applied cream

MANIFESTATIONS IN NEWBORN

Vernix can be seen on the skin of the newborn immediately after delivery. It may cover
a significant portion of the skin surface or may be present only in protected areas
(neck, axilla, inguinal creases, etc). It has a moist, rather greasy feel and is resistant
to washing. These photos show the appearance of vernix in several newborns. The
first photo on page 76 was taken shortly after birth and before bathing. A moderate
amount of vernix is present on the forehead. The thick, pasty consistency can be
appreciated. Notice how the material retains the imprint of the hat (anterior and
superior to the ear) even after the hat is removed. The other two pictures show the
typical appearance of vernix after bathing. Only a small residual amount remains in
the intertriginous areas.

RISK TO NEWBORN

There is no risk associated with the presence of vernix. In fact, vernix is believed to
confer a protective effect on the infant due to its moisture retention, antimicrobial,
and antioxidant properties, and is thought to play a role in the normal adaptation of
the newborn after delivery.

76 The Newborn Book

Vernix caseosa. Top: Vernix on the forehead of an infant immediately after birth. The pasty consistency can be appreciated here.
Bottom left and right: Residual vernix caseosa in the skin creases after bathing.

RECOMMENDED MANAGEMENT

Although removal of the vernix caseosa is practiced in some cultures, there is evidence
that vernix plays a role in protecting and promoting normal bacterial colonization of
the skin in the immediate newborn period. For this reason, some recommend that
vernix be retained after birth and not removed. Natural elimination of vernix occurs
within 510 days.

BREASTFEEDING CONSIDERATIONS
None.

General Characteristics Meconium Staining 77

REFERENCES
Singh, G., et al. 2008. Unraveling the Mystery of Vernix Caseosa. Indian J Derm 53 (2):5460.
Visscher, M. O., et al. 2005 Vernix Caseosa in Neonatal Adaptation. J Perinatol 25 (7):440446.
2

MECONIUM STAINING
SYNONYMS
None.

DEFINITION

Meconium staining is a yellow, green, or brown color seen in the amniotic fluid, vernix,
umbilical cord, or nails of a newborn. It is caused by the infant stooling into the
amniotic fluid before birth.

BACKGROUND

In utero passage of meconium complicates approximately 13% of deliveries.

Meconium staining results when meconium has been present in the amniotic fluid
for some time, though the minimum exposure time required for staining to occur is
not known. Conditions known to be associated with in utero passage of meconium
include the following:
Neonatal Condition
Gestational age >41 weeks
Maternal Diseases
Maternal hypertension
Maternal diabetes
Maternal preeclampsia or eclampsia

Antenatal Conditions
Intrauterine growth restriction
Fetal hypoxia
Fetal head compression
Environmental Influence
Maternal heavy cigarette smoking

Maternal chronic respiratory or

cardiovascular disease

PATHOPHYSIOLOGY

Normally, lack of intestinal peristalsis and tonic contraction of the anal sphincter in
utero prevent the release of stool into the amniotic fluid. This is partly related to low
motilin levels in the fetus. Because motilin levels rise toward the end of gestation,
some cases of in utero meconium are thought to be related to the functioning of a
more mature intestinal tract. This is also the reason why preterm infants rarely have
meconium-stained amniotic fluid, even in the event of fetal distress.
Fetal distress is a widely recognized cause of meconium passage in utero and is
thought to result from hypoxia or acidosis that lead to relaxation of the anal sphincter,
allowing the release of stool. Compression of the umbilical cord or head of the infant
is also thought to be related to relaxation of the anal sphincter, but as a result of vagal
stimulation.

78 The Newborn Book

DIFFERENTIAL DIAGNOSIS
Bile-stained amniotic fluid

MANIFESTATIONS IN NEWBORN

Meconium staining is typically seen on the umbilical cord and nails of the newborn as
a yellow or green discoloration. The photos shown here demonstrate the appearance
of meconium staining of the nails and the vernix. Nail discoloration can be subtle, but
it is most easily appreciated in the free edge of the nail. The nail edges in this photo
are visibly yellowed (compare to the examiners thumbnail). If vernix is present, the
normally white material may also be discolored.
Signs of respiratory distress (tachypnea, intercostal retractions, cyanosis, grunting,
or nasal flaring) in an infant born through meconium-stained amniotic fluid may
signal the onset of meconium aspiration syndrome. The symptoms of meconium
aspiration syndrome may be present at birth or may have an onset several hours later.
It is important to note that the presence of staining does not automatically imply
that the infant has passed meconium or has a normally functioning gastrointestinal
tract. In rare cases, the amniotic fluid may actually be discolored by bilious emesis that
occurs in utero as a result of intestinal obstruction.

nice comparison.

General Characteristics Meconium Staining 79

RISK TO NEWBORN

When meconium is present in the amniotic fluid, there is a risk of aspiration and
subsequent pulmonary disease (meconium aspiration syndrome). Most newborns
born through amniotic-stained fluid will do well, but up to 5% will have respiratory
distress caused by meconium aspiration syndrome. Although severity of the condition
is variable, it can be associated with persistent pulmonary hypertension and may be
lethal.

Meconium staining of vernix caseosa.

RECOMMENDED MANAGEMENT

The management of infants in the delivery room who are born through meconiumstained fluid has changed in recent years. Previously, all such infants routinely had
suctioning of the nose and mouth at the perineum (before delivery of the shoulders)
and intubation post-delivery for suctioning of the trachea. Evidence now shows that
these interventions do not change the incidence of meconium aspiration syndrome
in vigorous infants and may cause harm. The management of depressed infants (low
Apgar scores) has not been critically evaluated. In clinical practice, intubation and
tracheal suctioning are still done in this setting, but the magnitude of the benefits (if
any) remains unknown.
In the nursery, an asymptomatic infant with visible meconium staining needs no
special evaluation.

80 The Newborn Book

If respiratory symptoms develop, a neonatologist should be consulted and the

infant transferred to a unit where intensive care (including ventilator support) is
available; infants with meconium aspiration syndrome may deteriorate rapidly. The
use of surfactant, inhaled nitric oxide, or extracorporeal membrane oxygenation
(ECMO) is sometimes required in infants with severe disease.

BREASTFEEDING CONSIDERATIONS

Meconium staining in an otherwise well infant has no impact on breastfeeding.

If the infant develops respiratory distress or other symptoms and needs to be
separated from the mother, early (within the first 12 hours) and frequent expression
of milk (at least 8 times per day) with hands or breast pump should be initiated to
establish and maintain lactation. Aliquots of collected milk can be refrigerated or
frozen for future use, and the baby should be reintroduced to the breast as soon as
possible.

REFERENCES
Walsh, M.C., et al. 2007. Meconium Stained Fluid: Approach to the Mother and Baby. Clin Perinatol 34 (4):653665.
Wiswell, T. E. 2001. Handling the Meconium-Stained Infant. Semin Neonatol 6 (3):225231.
Ahanya, S. N. 2005. Meconium Passage in Utero: Mechanisms, Consequences, and Management. Obstet Gynecol Surv 60 (1):4556.
Griffiths, D. M., et al. 1988. When is Meconium-Stained Liquor Actually Bile Stained Vomit? Arch Dis Child 63 (2):201-202.
Vijayakumar, P., et al. 2001. When is Meconium-Stained Cord Actually Bile-Stained Cord? Case Report and Literature Review. J
Perinatol 21 (7):467468.
Aguilar, A. M., et al. 2011. The Suctioning in the Delivery Room Debate. Early Hum Develop 87 (Suppl 1):S13S15.

ACROCYANOSIS
SYNONYMS

Peripheral cyanosis

DEFINITION

Acrocyanosis refers to a blue (cyanotic) appearance of the hands and feet despite normal
oxygenation.
Perioral cyanosis is also technically a manifestation of acrocyanosis, but since it can
occur in isolation or can be absent when acrocyanosis of the hands and feet is present,
the two terms are frequently used separately in clinical practice.

BACKGROUND

Acrocyanosis is a normal finding immediately after birth as the infant transitions from
the hypoxic environment of the womb to the outside world. In most infants it is
physiologic and transient, but it may also be associated with the following conditions:
See Acrocyanosis conditions next page

General Characteristics Acrocyanosis 81

Acrocyanosis conditions from previous page
Environmental Influences

Neonatal Conditions
Sepsis

Cold exposure

Heart failure

Catheter-related vasospasm

Congenital hypothyroidism

Maternal heavy cigarette smoking

Polycythemia
Sandifer syndrome
Thromboembolism
Venous congestion

PATHOPHYSIOLOGY

Acrocyanosis of the newborn is thought to result from vasomotor instability. Peripheral

acidosis, vasoconstriction, and slow capillary blood flow with increased oxygen
extraction have been hypothesized as contributing factors, but the pathophysiology is
not well understood. When acrocyanosis occurs in the setting of shock, heart failure,
or sepsis, it is related primarily to vasoconstriction.

DIFFERENTIAL DIAGNOSES

Slate grey patch (Mongolian spot)

Bruising
Central cyanosis
Reynaud phenomenon
Methemoglobinemia
Hemangioma
Ink from handprints or footprints

MANIFESTATIONS IN NEWBORN

Acrocyanosis is most commonly encountered within the first few minutes of life. It is
evident as a blue color of the hands and/or feet that may be subtle or striking. In most
newborns, acrocyanosis resolves within the first several hours of life, but it may persist
for weeks and can come and go unpredictably. When acrocyanosis is physiologic, the
affected areas are generally warm to the touch. If the blue extremities are also cool,
vasoconstriction associated with underlying pathology should be considered.
Examples of physiologic acrocyanosis in the first few hours of life are shown on
page 82. In the first photo, taken one hour after birth, the entire hand is noticeably
cyanotic compared with the rest of the baby. In the second photo, very mild cyanosis
of the foot is visible. Compare the color of the sole of the foot with the thigh. In the
third photo, several of the toes and part of the sole appear blue; other parts are pink.
Several minutes before this photo was taken the entire foot was cyanotic, but since
acrocyanosis is a transient and changeable finding, transitional states such as this one
may be observed.

82 The Newborn Book

Acrocyanosis can appear in healthy infants during episodes of crying, regurgitation,

vomiting, coughing, or breath-holding spells. When gastroesophageal reflux causes
episodes of acrocyanosis associated with apnea, hypotonia, or seizure-like movements
(Sandifer syndrome) treatment of the underlying problem is generally indicated.

Acrocyanosis of the hands and feet shortly after birth. Top: The color of the hand is noticeably different than the color of the
rest of the skin. Bottom left: Mild acrocyanosis with subtle color change. Bottom right: A transitional state in which marked
acrocyanosis of the toes is still visible, but a portion of the sole has turned pink.

RISK TO NEWBORN

The presence of acrocyanosis immediately after birth is not associated with any risk
for the infant. It is a normal finding.
When acrocyanosis is a manifestation of sepsis, heart failure, or other pathology,
the risks to the infant can be severe (including death) if the condition is not promptly
recognized and treated.