Fetal Diagnosis of Genetic Disorders

Alyssa Speeg

Alyssa Speeg

Fetal Diagnosis of Genetic Disorders

Prenatal diagnosis is a method that is used to determine information regarding

an embryo or fetus. This information can be used further in predicting any diseases or
complications that will be present in a child based on chromosome abnormalities. There
are several genes that may be studied in this diagnosis based on the chromosomes that
appear missing. Extra chromosomes may also be a cause for concern. Several of the
techniques used for diagnosing are invasive procedures, but there are also non-invasive
procedures that are less risky for the fetus and the mother.
Amniocentesis is the oldest procedure used for fetal diagnosis of genetic
disorders. The common uses for this procedure are to detect genetic disorders in
women with advanced maternal age, chromosomal translocations or anomalies,
structural anomalies or trisomy. This invasive procedure is performed between 16 and
20 weeks to determine the sex of the child or risks of certain diseases. At this time,
there are more living cells within the amniotic fluid that can be tested. This procedure
has between a 0.5% and 1% fetal loss rate that is cause for concern in ethical
discussions. However, the rate of fetal loss is much higher if it is performed after 18
weeks of gestation. Amniocentesis is often used to detect the risk of Down syndrome
within a fetus. The aberration of chromosome 21 is affected during this syndrome. This
aneuploidy can cause a high risk of congenital heart defects, sleep apnea and several
other diseases. Though the procedure has a 1% risk of fetal loss, it rarely gives false
positives compared to those of non-invasive procedures. It is often suggested to be
performed on women that are 35 years or older, who are at a high risk of having a child
with Down syndrome.

Alyssa Speeg

Fetal Diagnosis of Genetic Disorders

Another invasive procedure that can be performed for fetal diagnosis is through
chorionic villous sampling. In CVS, a sample of placental tissue is obtained at 10 to 13
weeks gestation. This invasive procedure also comes with a higher risk than
amniocentesis considering it is the only diagnostic test available that is done during the
first trimester. Fetal loss during this period is high and maternal death is also a
concerning possibility. Due to other environmental factors during pregnancies, it is
difficult to determine whether the loss of the fetus is due to the procedure or other
complications.
Recently, safer procedures have been discovered that are less invasive and have
a higher rate of success than previous non-invasive procedures. Noninvasive
procedures can be done through biochemical or genetic means, and can also be
performed through an ultrasound. By using biochemical measurements, physicians are
able to rely on maternal serum concentrations that can determine if the fetus is at risk to
be affected by Down syndrome. Although the procedure is not as successful as
amniocentesis because of a risk of false positives, the risk of fetal loss in amniocentesis
is taken into consideration when discussing which is better for both mother and child.
Cystic fibrosis is another disorder that can be detected in fetal diagnosis using a
non-invasive procedure. A procedure called Droplet Digital PCR has been used to
detect mutations in cell free Fetal DNA. By using cells within the mothers bloodstream
that is within a layer of tissue around the embryo, they are able to detect a paternal
mutation that can cause cystic fibrosis in their child. This procedure was performed
between 11 and 12 weeks of gestation. One challenge is that the cells used make up a

Alyssa Speeg

Fetal Diagnosis of Genetic Disorders

very small portion of DNA and are present at a very early stage of pregnancy. Therefore,
high-sensitivity technology is needed to perform the procedure.
This procedure has previously been used in sex determination and also for
detection of aneuploidies, such as Down syndrome that was previously discussed.
However, it has recently been used for the studies of cystic fibrosis or polymorphic
singe-gene disorders, such as sick cell disease. The procedure is ideal for detection of
these disorders because it is low risk and low cost. It also requires a low level of
expertise to perform.
Another non-invasive procedure is the use of ultrasounds that can determine a
few disorders. Agnathia-otocephaly is one disorder that can be predetermined by the
use of ultrasounds. This disorder is a malformation occurring in facial development,
which occurs around four to eight weeks of gestation. The characteristics of this
disorders is shown in an absence of the mandible, underdeveloped tongue, and a
midfacial location of the ears. Several anomalies can determine a risk of this disorder
such as holoprosecephaly, skeletal, genito-urinary, cardiovascular anomalies, and situs
inversus. Within the embryo, the presence of this disease proves to be fatal. It is often
detected best through 3D ultrasounds, where the extent of the abnormality can be
shown.
In some cases, both non-invasive and invasive procedures can be helpful in
determining genetic disorders or providing better knowledge about the extent of the
disorder. Ultra sounds can be performed to show if a fetus shows problems such as
nuchal translucency, lack of nasal bone, choroid plexus cysts, or echogenic intestines,
which are all signs of Down syndrome and other aneuploidies. . With this information,

Alyssa Speeg

Fetal Diagnosis of Genetic Disorders

decisions can be made whether or not to continue with further testing if positive results
are found. The parents are able to use this information to help them determine to
terminate the pregnancy or plan to raise a child with a genetic disorder. This issue of
terminate a pregnancy causes much debate as many people would suggest that
although the fetus can not think on its own, the rights of its own life should be respected.
Some non-invasive procedures are performed solely to receive information because of
its ability to be performed without risking the child or mothers life.
When decisions are made between non-invasive or invasive procedures,
research has shown that socioeconomic backgrounds, religion backgrounds, and
experiences with disability and genetic testing play an important role in deciding
between the two. Research has also shown that although non-invasive procedures are
effective in most circumstances, the lack of knowledge across the general public that
this procedure is available is low. This calls for an increase in patient care to inform the
patient on all options available.

Alyssa Speeg

Fetal Diagnosis of Genetic Disorders

Works Cited

Timu Alev. The analysis of amniocentesis results. Perinatal Journal, 21(3): 101-106:
2013.
Laudanski P. Maternal Plasma and Amniotic Fluid Chemokines Screening in Fetal
Down Syndrome. Mediators of inflammation. United States: 2014.
Haddow, James. Reducing the Need for Amniocentesis in Women 35 Years of Age of
Older with Serum Markers for Screening. The New England Journal of Medicine,
1994.
Sayres, Lauren. Demographic and Experiential Correlates of Public Attitudes Towards
Cell-Free Fetal DNA Screening. Journal of Genetic Counseling December
2014.
Hisaba, Wagner Jou. Agnathia-otocephaly. Medical Ultrasonagraphy Vol. 16, No.4,
377-379. December 2014.
Wax, Joseph. Noninvasive Prenatal Testing: Impact on Genetic Counseling, Invasive
Prenatal Diagnosis, and Trisomy 21 Detection. Journal of Clinical Ultrasound
Vol. 43 (1), pg. 1-6. 2014 Oct 09.
Stone, Joanne. Risks of Chorionic Villus Sampling and Amniocentesis. Contemporary
OB/ GYN Vol. 58(5): 24-59. 2014 Feb.