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Science

Testing for Down syndrome remains controversial in Germany

In recent years, blood tests for Down syndrome have been introduced, but they are still controversial in Germany. And the decision whether or not to terminate a pregnancy remains a tough one. A family tells their story.

Corene and JC Cavanagh are adjusting to life as new parents. A hectic schedule, sleep deprivation - their lives bear the hallmark of having a newborn. Their son, Koen, is 8 weeks old. The new addition is unique from his siblings in one way: Koen has Down syndrome.

"Life is great. We were a little scared at first," said JC. "As each day goes by, we get into the same routine as with any of our other kids."

The Cavanaghs relocated to Germany in July 2015. As an officer in the US military, Corene's career path brought the young family overseas for the first time. They moved their two young children and dog to the hamlet of Altenglan in the western state of Rhineland-Palatinate.

Before leaving the United States, Corene and JC learned they were expecting a third child. They decided to do a so-called cell free fetal DNA test because Corene was 35 years old - an age at which some complications during pregnancy are more common.

"I was told I could do this blood work and that the insurance would cover it since I was 35," explained Corene. "We wanted to know the gender of the baby sooner."

The possibility of a chromosomal condition didn't cross their minds as neither had any firsthand experience with Down syndrome. However, the couple received unexpected results from the blood test. They were asked to come to the gynecologist's office, an hour's drive from their home.

On the way to the clinic, the couple was on edge. JC called the office and asked to be given the news before they arrived. The doctor's announcement left them stunned.

"The doctor said 'It's trisomy 21.' Then I asked, What's that?'" JC said. "Then, she told me it was Down syndrome."

Prenatal testing for trisomy 21

Prenatal diagnosis tests have been used to detect Down syndrome since the early 1980s. Methods range from an amniotic fluid test, called amniocentesis,where a doctor extracts a sample from the fetus, to a DNA blood test to determine whether an unborn fetus has chromosomal differences like trisomy 21. The aim is to identify any potential health issues as early in the pregnancy as possible.

Dr. Oliver Kagan, a gynecologist at the Tübingen University women's clinic, said the simplest screening test was looking at the expectant mother's age, especially if she is over 35.

"Every single patient has a risk for Down syndrome, and it increases with age. For example, the risk for a 20-year-old mother is 1 in 1,000," he said. "For a 40-year-old, [the odds] are 1 in 100. For a 44-year-old, the odds are 1 in 20."

Deutschland Altenglan Mutter und Baby mit Down Syndrom

The Cavanaghs decided to keep Koen

Before any testing for chromosomal abnormalities, patients undergo an ultrasound. Gynecologists recommend doing the scan at 12 weeks to allow the fetus to develop to be able to diagnoze any abnormalities.

A cell-free fetal DNA test is a less invasive version of the amniotic fluid test. It reveals the gender of the child and if any chromosomal abnormalities are present. The doctor collects a blood sample from the expectant mother and sends it off for analysis as early as week 8 or 9 of the pregnancy. The results arrive between one and two weeks later.

This type of prenatal diagnosis has a lower rate of miscarriage than its predecessors. Although the risk of miscarriage following an amniocentesis is also extremely low.

If the blood test indicates a chromosonal abnormality, gynecologists must still conduct an invasive procedure to confirm the results. The invasive procedures cannot, however, be done at a very early stage in the pregnancy, which means the blood test, at present, does not give couples a definitive result early on in the pregnancy.

Patients can choose to have a chorionic villus sampling (CVS) or an amniotic fluid test. The CVS method allows expectant parents to have their results within two days, so if the woman underwent cell free fetal DNA testing at 12 weeks, she would have the results by week 14. The amniotic fluid exam brings a diagnosis at 15 or 16 weeks.

Kagan recommends that patients consider the second option as the diagnosis is more precise at a later stage in pregnancy. Once a prenatal exam discovers Down syndrome, expectant parents must decide if they would like to keep the child. When diagnosed in the first trimester, between 80 and 90 percent of parents choose to terminate the pregnancy, said Kagan.

A certain controversy

The decision to legalize cell-free fetal DNA tests in 2012 caused uproar among some segments of German society. Human rights groups, religious organizations and people with Down syndrome petitioned the courts to block its legalization.

Critics argued that the blood test - which only checks an unborn fetus for trisomies 13, 18 and 21 - didn't serve any medical or therapeutic purpose. Instead, they accused the blood tests of being genetic selection aimed at segregating those with Down syndrome.

Dr. Elzbieta Szczebek, head of the Down Syndrome Info Center, believes that parents have the right to know if their child is healthy. However, her organization is concerned about the popularity of the DNA test among women under 35.

"We are strictly against the fact that this test is being offered to all women - even young mothers," she said. "We are also against the result that people with disabilities, especially with Down syndrome, are being weeded out by this process."

Deciding to keep Koen

After the Cavanaghs received the positive diagnosis, they had to choose whether to have a child with Down syndrome or to terminate the pregnancy. They were both shocked by the test results and were unsure about their child's future.

"We had a little bit of struggles at the beginning," Corene said. "I was firm that I couldn't end a life."

JC was concerned about the quality of life that their child would have if he were born. He was especially concerned about health issues and cognitive development.

"He asked 'If he can't function, what kind of life is he going to have?'" Corene said. "And are we right for keeping him?'"

Ultimately, they decided to keep the child. The Cavanaghs found solace in prayer and speaking with friends and family who were familiar with the condition. They also joined the Down Syndrome Diagnosis Network, a Facebook group for parents of children with trisomy 21 to learn more about the condition.

The family crossed the Atlantic to begin the new chapter of their lives in Germany, an adventure that began with the baby's arrival. Koen was born on August 28th, 2015 in Landstuhl, a neighboring city.

"Keeping him was the decision for us, even though we heard a lot of worst-case scenarios," Corene said. "But, once you make the decision, then you take everything else as it comes."

Corene said she was quite worried after receiving the results of the DNA test and had to attend counseling. Given another opportunity, she said, she wouldn't do the test because of the energy and time she lost to the stress.

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