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Lauren Maynor

Ms. Curtin

Intern Mentor

7 April 2019

The Down Low on Down Syndrome: Prenatal Screening Algorithms

In the United States about 6,000 babies are born a year with Down syndrome (Wakeman,

2017). Down syndrome is a genetic condition that affects a person physically and mentally

(Morina, 2016). While a woman is pregnant she can undergo genetic testing to determine her

risk for this condition. These test search for extra genetic material that highlight an increased

risk for Down syndrome ("Understanding a Diagnosis," 2018). There are a number of prenatal

genetic test a pregnant woman can choose from when wanting to analyze her risk of having a

child with Down syndrome; thus, it is important that doctors provide a pregnant woman with

clear and concise information about the condition and genetic testing, so that the woman can

make a confident decision about which test is best for her.

During a consultation with a doctor, it is important that a mother receives information

about Down syndrome and genetic testing. By providing information that a pregnant woman can

take home, it gives her the opportunity to review the information and fully understand what

Down syndrome is, before deciding which genetic test to undergo. It is important that before the

pregnant woman decides which genetic test is best for her that she first comprehend what is

Down syndrome, because this could affect whether or not she wants a certain exam

(Understanding, 2018).
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A person with Down syndrome has an extra copy of chromosome 21. Instead of having

two pairs there is three. There are three forms of Down syndrome: trisomy 21, mosaicism, and

translocation ("Down Syndrome," n.d.) To break it down, trisomy 21 is most common with

about 95% - 97% of cases having this form of Down syndrome. Translocation occurs in about

3% - 4% of cases and mosaicism occurs in only about 1% - 2% of all cases. (UCSF Medical

Center, 2018). Depending on which test the mother undergoes she may be able to determine

exactly what form of Down syndrome her child has. In the United States, there about every

1/800 infants has Down syndrome ("Down Syndrome," 2015).

There are some physical characteristics that usually accompany Down syndrome and can

be seen during the pregnancy or once the child is born. Once the child is born, before a

karyotype is completed, a doctor can analyze the child’s physical features to determine if the

child has Down syndrome. While this physical feature analysis is not definitive it can give a clue

to doctors about whether or not the karyotype will come back positive for Down syndrome.

More specifically some of the most common features for a child with Down syndrome include:

low muscle tone, upward slanting eyes, deep crease in the palm of the hand, large gap between

the first and second toe, and excess skin on the back of the neck ("Understanding a Diagnosis,"

2018).

After birth it is important the new mother takes are the infant to check-up appointments

to ensure the baby is growing at a good rate. Since children with Down syndrome develop

slower than other children the doctor should have an adapted growth chart and mile marker for

these children. Specifically, every year a mother should take her child to check their heart,

hearing and vision, stomach and bowels, and neck instability. A checkup for these is important
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because these are common areas where child with Down syndrome have problems and need

extra help or aid (Bull, 2013). About 50% of infant with Down syndrome are born with a heart

defect and require surgery at birth, so it is important that doctor check the baby’s heart in utero

or right after birth (Prenatal Screening, 2017, p. [Page 12]).

During the pregnancy before genetic testing is conducted certain certain physical

characteristics can raise concerns for Down syndrome. For example, it is common for fetus to

have extra folds on the nape of there neck. This is known as nuchal translucency and can be

analyzed during a sonogram. Nuchal transparency is defined as the accumulation of fluid behind

the infant’s neck (Chaudhury & Mukherjee, 2016, p. [Page 149]).

Also, while mothers should not be upset because they believe that they could have

prevented their child from ‘getting Down syndrome.’ Down syndrome is not connected to any

race, nationality, religion, or socioeconomic status. There is nothing a parent can do to ‘prevent’

their baby from being diagnosed with Down syndrome (Prenatal Screening, 2017, p. [Page 7]).

Although a family may be melancholy after discovering their child has Down syndrome, this

condition actually provides some medical insight to doctors and can help answer tough ethics

questions on prenatal testing (Reflect, 2017).

Doctors work with Down syndrome patients to research diseases and other disorders like

cancer, alzheimer's, and immune system disorder (Reflect, 2017). Furthermore, people with

Down syndrome are overall much happier than other people with or without a handicap.

Knowing this, doctor’s look at people with Down syndrome to help understand what makes them

so much happen then the rest of the population ("Emotional Impact," n.d.).
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Also by researching Down syndrome and prenatal testing, researchers and doctors can

work towards answering questions about the ethics of genetic testing (Reflect, 2017).

Understanding the ethics behind genetic testing can possibly help lower the rates of abortion. In

countries like Iceland and in Europe where termination rate are as high as 98% it is important to

review if this is ethical. Questions are being raised about when is it too late to abort a child with

Down syndrome, and if it is even ethical to have an abortion based solely a child having Trisomy

21 (CBS News, 2017). Some believe doctors are pushing mothers in the direction of an abortion;

thus, it is necessary to ask if this action is approved and what can be done to fix it. It important

that mothers are given freedom to choose what to do without feeling any obligation to do what a

doctor encourages (“Emotional Impact,” n.d.). Another important aspect of Down syndrome is

understanding what genetic testing is because it can be difficult to grasp; however, with proper

explanation from the doctor a mother can confidently decide which test is best for her (UCSF

Medical Center, 2018).

There are two different type of genetic test for Down syndrome. There are screening test

and diagnostic test. Each comes with their own benefits and drawbacks so it is important for a

mother to weigh and consider her options (UCSF Medical Center, 2018). A screening test is a

noninvasive test that provides the mother and doctors with the risk percentage the mother has of

bearing a child with Down syndrome. These are not definitive which means they are at an

increased likelihood of having results that are false positives or false negatives ("Understanding a

Diagnosis," 2018). Examples of screening test include: full integrated, serum integrated,

combined, quadruple, triple, and cell-free DNA (Messerlian, 2018). Each of these test has its

own timeline on when it can be conducted and how effective it is at detecting Down syndrome;
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consequently, it is important for a mother to consider these factors when selecting a test

(Messerlian, 2018). A screening test is usually used for mothers who seem to be at higher risk

after warning signs for Down syndrome are present on an ultrasound. Also it can be utilized for

women who are of an increased maternal age (A. Higgs, personal communication, February 27,

2019).

On the other hand, a diagnostic test is an invasive examination that draw genetic material

from inside the womb. Diagnostic test are much more accurate than screening test; thus, the

rates of false negative and false positives are much lower. This testing is able to tell a pregnant

woman almost definitely if her baby does or does not Down syndrome ("Understanding a

Diagnosis," 2018). Diagnostic testing is usually not the first plan of attack because there is an

increased risk of miscarriage that deters some mothers. After a screening test, if the result is

positive, then a mother can choose to have a diagnostic test conducted. These tests are invasive

but provide definitive results; thus, providing the mom the power of knowledge (Messerlian,

2018).

There are only two options of diagnostic testing: chorionic villus sampling (CVS) and

amniocentesis ("Down Syndrome," 2015). Before choosing a test, it is important that a mother

discusses all her test options with a physician or genetic counselor. Depending on where the

woman is in her pregnancy can also affect which test is best for her. There are about five main

screening test and two main diagnostic test; thus, giving the pregnant woman a variety to choose

from ("Down Syndrome," 2015).

As mentioned earlier for non-invasive screening tests there are full integrated, serum

integrated, combined, quadruple, triple, and cell-free DNA. For diagnostic test a mother can
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choose between CVS and amniocentesis (Messerlian, 2018). A mother must consider where in

her pregnancy she is too when selecting a test. Specifically a quad screening can be done at 18

weeks; Triple screening at 16-18 weeks; Cell-free DNA at 10-14 weeks; Chorionic Villus

Sampling at 10-13 week; and Amniocentesis at 14-20 weeks ("Down Syndrome," 2015).

In the United States the most popular screening test is the quadruple screening test;

however, cell free DNA is becoming increasingly popular ("Down Syndrome," 2015). Although,

mothers must be aware that while cell-free DNA is being treated as a diagnostic test by some this

test is still only a screening. It can not give a definite yes or no to whether a woman will have a

child with Down syndrome (A. Higgs, personal communication, February 27, 2019).

When a person meets with a genetic counselor they can discuss the options. It is the

genetic counselor’s job to listen to what the mother does and does not want in the test and then

he or she can suggest a test that seems to fit the pregnant woman’s wants. A genetic counselor

does not tell the mother which test to do or not to do (A. Higgs, personal communication,

February 27, 2019).

Globally the rate of termination has increased due to early detection of Down syndrome

though genetic testing (Gaffney, 2015). In the United States 67% of fetus who are thought to

have Down syndrome get aborted. Almost 100% of fetuses with positive test get aborted

(Wakeman, 2017). Advocates for Down syndrome are now emphasizing to the public that the

goal of genetic testing is to help women prepare for a child with Down syndrome; however, the

testing seems to have the reverse effect with more and more women getting abortions. Instead of

mother’s preparing for a child with Down syndrome, she is now choosing to terminate the

pregnancy (Gaffney, 2015).

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In multiple US states, laws have tried to be passed that would ban the abortion of a child

with a genetic disorder or specifically Down syndrome, but none of them have been passed

(Wakeman, 2017). Statistics have shown that there has been a steady decrease of children born

with Down syndrome (Children's Hospital Boston, 2009). Since the integration of prenatal

testing there has actually been a 15% decrease of babies born with Down syndrome, but if there

was no prenatal testing the number of Down syndrome children born would have actually

increased by 15% (Children's Hospital Boston, 2009). As testing continues to get better the

number of children born with Down syndrome increases (Gaffney, 2015).

Down syndrome is not a condition that prohibits a child from growing up to live a

fulfilling life. While there may be obstacles, people with Down syndrome and parents of a child

with Down syndrome report happy and healthy growth and relationships (Prenatal Screening,

2017). Mothers report feelings of uneasiness and stress at first, but after the birth of the child,

they state that they have learned how to deal with them and love the baby the same as any other

child ("Emotional Impact," n.d.).

Although some mothers believe that knowing early was stressful while others think it

provided them with time to prepare their home and adjust their lifestyle for a child with Down

syndrome ("Emotional Impact," n.d.). However to counter this opinion, the genetic testing can

be viewed as a form of power, providing the family with information they can use to their

advantage. By knowing about the genetic defect earlier they are able to find doctors, talks to

others with a similar experience, and read about the condition before the baby arrives (A. Higgs,

personal communication, February 27, 2019).

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Sadly, overall, most mothers stated that they felt there doctor did not properly inform

them about the condition (Children's Hospital Boston, 2009). Some mothers felt as though the

doctor seemed to give them incomplete information about Down syndrome, therefore being bias,

while doctors state that they did not know how to approach a parent about their child having

Down syndrome. Now steps are being taken to improve the discussion process between a

pregnant woman and her doctor (Children's Hospital Boston, 2009).

For example in one mother’s experience, the doctors told her that her son would live a

meaningless life. They told her everything her son would not be able to do, like walk or read.

They thought they were being helpful and informative by telling her this information, when

really she found it to be disrespectful and unwanted. (Bradshaw, 2017). This is not the case

though, people with Down syndrome can lead a successful and fulfilling life. If helped and

supported they do not have to be held back by the condition (Reflect, 2017).

Since early intervention programs and global organizations have begun to help people

with Down syndrome there life expectancy has increased to 60 years old. This longer life

expectancy and increase support has lead to a growing number of individuals with Down

syndrome attending post secondary education, getting married, and living independently

(Prenatal Screening, 2017, p. [Page 11]).

Foundations are helping families and people with Down syndrome find opportunities that

are tailored to fit and meet their needs (Gaffney, 2015). One person with Down syndrome

explains that he has given lectures at universities, acted in films and TVs shows, and been to the

White House. His personal experiences show the potential of a person with Down syndrome.
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He or she is able to accomplish anything that any other person could, displaying how this

condition does not limit one’s success (Reflect, 2017).

While there have been some improvements more can still be done (Gaffney, 2015). As

better education and inclusion is becoming more widespread and people with Down synrome are

more fully accepted today, it is still difficult for them to get an education that suits their needs

and pace (Gaffney, 2015). Furthermore, funding for some organizations and foundations is

limited too; therefore, it is important that citizens and the government continue to work toward

supporting people with this condition (Reflect, 2017).

Today a pregnant woman is able to connect to online networks and support groups with

other mothers who have a child with Down syndrome; thus, allowing the mother to gather more

information about the condition and genetic testing from others (Cook, Johnson, & Krych, 2012).

For example today Grassroots and the Global Down syndrome Foundation have worked towards

the inclusion and acceptance of child with Down syndrome (Gaffney, 2015). Also each state is

required to offer intervention care for infants and children with disabilities, so a child is able to

get help for free. Many different online organizations and telephone numbers are available to

call if a mother is worried or has questions about her fetus or infant too.

Currently, in the United States, there are about 250 local organizations for Down

syndrome so it is likely there is one near an expecting woman (Prenatal Screening, 2017, p.

[Page 16]). Many mothers who have talked to state that is has helped calm their nerves about the

Down syndrome diagnosis and helped with their understanding of the condition ("Emotional

Impact," n.d.). Some clinics connect mother’s with individuals who have Down syndrome so
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they are able to talk to someone first hand who has the condition (Children's Hospital Boston,

2009).

Down syndrome is a condition where a person as extra genetic information but this does

not mean they are unable to accomplish anything in life that they set their mind too. Genetic

testing has now allowed mothers to find out earlier if their child has Down syndrome. Through a

variety of screening and diagnostic testing a mother can receive a near perfect result on the true

possibility of her child having Trisomy 21. It is essential that doctors effective inform the

mothers about what Down syndrome is and each test. By understanding the information better a

mother can then better choose which test is for her.

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