The Rising Popularity of Prenatal Screenings for Chromosomal Disorders

Posted On: December 23, 2015 By Andrei Rebarber, MD

This past June, Renate Lindeman from the Netherlands, a mother of two children with Down Syndrome (DS), wrote an op-ed for The Washington Post about her experiences with her children’s initial diagnosis and the new popularity of prenatal screenings for chromosomal disorders, DS among them.

In the case of her first child, Lindeman did not know until her daughter was born that she had DS. She says she imagined “children sitting passively in a corner watching life go by”, a fear that has been totally disproven in her family. The child is now 11. “My daughter April is an active, outgoing girl. She’s my ‘nature child’, wildly passionate about anything with four legs. Although April uses few words, she’s a master communicator. Through her, I’ve learned that Down Syndrome is not the scary, terrible condition it’s made out to be,” Lindeman says.

Lindeman had a second daughter with DS, Hazel, and she knew about it before she was born. “I realized that negative attitudes about the condition remain deeply rooted. To many, my children and their cohort are examples of avoidable human suffering, as well as financial burden. Knowing that individuals look at my daughters this way hurts, but seeing governments and medical professionals worldwide reinforce these prejudices by promoting selection is horrendous,” said Lindeman.

Attitudes Toward Screening

In 2006, Denmark became the first European country to introduce routine screening for chromosomal disorders into public health care. Other countries have followed suit, and currently, 90% of pregnant Danish women choose to undergo screening for chromosomal disorders. (Very few babies with DS are carried to term there. In 2011, The Copenhagen Post predicted that Denmark might lack “a single citizen with DS in the not too distant future.”)

While OB/GYNs generally recommend screenings for chromosomal disorders in women 35 and older, many younger women request them as well. “The majority of my patients who choose to get these screenings are interested in knowing if a problem exists,” said Dr. Andrei Rebarber, a board certified OB/GYN at Maternal Fetal Medicine Associates in New York. “At one time, only pregnant women who were ages 35 and older were screened for chromosomal abnormalities, but now the American Congress of Obstetricians and Gynecologists (ACOG) recommends screening at all ages,” mentioned Dr. Lawrence Grunfeld, a board certified reproductive endocrinologist.

A screening shows the probability of an unborn baby having DS. At 15 to 20 weeks, women can choose to undergo the quadruple screen, a blood test determining if a baby has a higher risk for various issues including DS, trisomy 18, and spina bifida. Additionally, between 11 to 13 weeks, women can opt for the nuchal translucency (NT) screening, an ultrasound that measures the nuchal fold, an area of fluid behind the baby’s growing neck, to determine risk for chromosomal disorders. It is noteworthy that “most doctors don’t use the quad or ultrasound if other tests are performed,” explained Dr. Rebarber.

Depending on the outcome, some women move on to diagnostic tests. Amniocentesis is offered between 16 to 20 weeks, with a 99% accuracy rate. However, “amniocentesis is performed less frequently and is done when prior test results need confirmation,” explained Dr. Grunfeld. “CVS is performed earlier…and is a better test to detect genetic abnormalities…”

While screenings carry no risk to the mother or the baby, diagnostic tests do carry a risk of miscarriage. However, this risk is “quoted to be 1/300 to 1/500, but probably less in experienced centers. We believe it is closer to 1/1000,” stated Dr. Joanne Stone, the Maternal Fetal Medicine Fellowship Director at the Mount Sinai School of Medicine.

Before and After Testing

Before choosing to undergo these screenings, expectant couples should check that insurance covers the cost. Insurance companies vary in what screenings they cover; some screenings are covered by insurance because they are considered routine care. For instance, most insurance companies qualify the second-trimester quad as routine and cover its cost. Most insurance companies cover CVS, though some may not if the patient is under 35 and/or has a low-risk pregnancy.

A Jewish expectant couple who receive a diagnosis for DS or another chromosomal disorder should speak to a halachic authority in conjunction with a genetic counselor for advice in how to proceed. “Some genetic disorders such as trisomy 13 or 18 are usually not compatible with life,” stated Dr. Stone. “Some of my patients become educated about DS and contact support groups in order to better prepare for caring for an infant with DS, as well as deal with the emotional preparation component,” commented Dr. Rebarber.

It is crucial that expectant parents keep a diagnosis of DS in perspective. Many available resources exist for children and adults with DS, enabling them to become contributing members of society as they grow.

Carnegie Imaging for Women blogs are intended for educational purposes only and do not replace certified professional care. Medical conditions vary and change frequently. Please ask your doctor any questions you may have regarding your condition to receive a proper diagnosis or risk analysis. Thank you!

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