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Commentary: Why Prenatal Testing Harms As Much As Helps; Deciding to Not Screen for Down (9/10)

Deciding Not to Screen for Down Syndrome
By LISA BELKIN

Amy Julia Becker is expecting her third child in January. She is 32 years old, and her age, plus the fact that her first child was born with Down syndrome, magnifies her odds of a chromosomal abnormality in this pregnancy, leading her doctors to suggest prenatal testing.

In spite of the odds — or perhaps because of them — Amy and her husband have declined the tests. In a guest post today, she explains why.

WHY PRENATAL TESTING HARMS AS MUCH AS IT HELPS
by Amy Julia Becker

My pregnancy has been an easy one. No morning sickness, more than ample weight gain, minimal aches and pains and good rest. Yet as my husband, Peter, and I walked into the doctor’s office for our first prenatal appointment, I said, “I am dreading this visit.”

Our daughter, who is now 4½, has Down syndrome. She was born when I was 28. Although there is no known cause for Down syndrome (the presence of an extra 21st chromosome), as soon as I conceived Penny, my chances of having another baby with Down syndrome increased significantly, from 1 in 1,000 to 1 in 100. Those chances only increase further as I age.

But my dread as I walked into the doctor’s office didn’t come from the thought that this new baby might have an extra chromosome. My dread arose from the prospect of talking to a doctor about prenatal testing. 

The American Congress of Obstetricians and Gynecologists recommends prenatal screening for Down syndrome for all pregnant women, regardless of age.

Screening tests can include an ultrasound to measure aspects of the baby’s anatomy and blood tests to measure hormone levels in the mother. These tests accurately identify babies with Down syndrome 85 percent to 90 percent of the time.

Peter and I know the statistics.

We know the health complications associated with Down syndrome — heart defects, intestinal abnormalities, celiac disease, low muscle tone, developmental delays.

We know that Down syndrome brings with it more intensive one-on-one attention in the early years and more doctor’s visits throughout childhood. We know it brings with it more uncertainty as the child grows up.

But we also know that a textbook definition of a syndrome can never capture the reality of any particular human life. Penny, for instance, was one of the 50 percent of children with Down syndrome born with a heart defect.

When she was 14 months old, she went into the hospital one morning to have her heart repaired. She came home that evening. Otherwise, she has experienced fairly normal health. Tubes in her ears, glasses and one hospital stay during a bout of the stomach flu.

The list of potential problems that we received after she was born could never have predicted the pride we felt when Penny learned to write her name, when she, after months of practice, jumped off the ground with two feet, when she finally progressed to big-girl underwear.

The data told us that learning would be harder for her than for a typically developing child. It is, and yet she is able to write all the letters of the alphabet and tell stories and make up songs.

And no list of developmental problems told us that empathy would be easier for her, that her eyes would well with tears and she would run to console her little brother when he falls and cries, that even as a 2-year-old she would see a picture of a wounded man and say: “Me help! Me help!”

Penny is not the exception. We know the gift that Kiera, for instance, and Rachel, and Ravi, and John and Tasha are to their families and to their communities.

When I was pregnant with William, our second child, I agreed to an ultrascreen, the combination of bloodwork and ultrasound that looks for abnormalities in the 11th week of pregnancy.

I told myself that I wanted to know if the baby had a healthy heart. But the literature about the test explains that it is effective 90 percent of the time in detecting Down syndrome and only 40 percent of the time in detecting congenital heart defects.

It wasn’t offering me a chance to know the physical health of my baby so much as providing me a choice about whether to continue my pregnancy if the baby had Down syndrome.

For this pregnancy, I have had two ultrasounds, and I have agreed to a fetal echocardiogram. But I declined the blood tests that screen for chromosomal abnormalities. I declined the amniocentesis. I didn’t return my insurance company’s calls when they wanted to assign a nurse to guide me through this pregnancy.

I’m not opposed to having information about our baby ahead of time. I want to know everything we could know in order to care for this child well. If there is a physical problem, if I need to deliver with specialists on hand, if our baby is at high risk of complications, I want to know about it, and the tests we have chosen should provide that information.

And although I declined, I’m not opposed to prenatal testing. There are benefits to knowledge. According to Dr. Brian Skotko of Harvard Medical School, studies have demonstrated the helpfulness of prenatal diagnosis. Women who know ahead of time that their babies have Down syndrome are able to celebrate their arrival into the world, and often these women feel better prepared for the challenges they might face as a parent.

On the other hand, the way these tests are administered, the way information is provided to women and the way our culture talks about and conceives of individuals with chromosomal abnormalities contribute to my concern that prenatal testing more often serves to devalue all human life and to offer parents and doctors an illusion of control.

When a friend of mine, who has a daughter with Down syndrome, declined amniocentesis for her next pregnancy, her doctor shrugged and said, “Well, if it happens again, don’t blame me.” Another friend, upon receiving the results of her amniocentesis, was asked, “When would you like to schedule the procedure to terminate?”

Peter and I have participated in a program through the Robert Wood Johnson Medical School in which medical students meet families with a child with a disability.

These doctors in training have told me that before they met Penny, they thought Down syndrome was the worst possible thing that could happen to a child. A medical-school professor at the University of North Carolina offered validation to their report when he said to his class, ‘‘In my opinion, the moral thing for older women to do is to have amniocentesis, as soon during pregnancy as is safe for the fetus, test whether placental cells have a third chromosome 21, and abort the fetus if it does.’’

Many people within our culture, and particularly those within the medical establishment, think that Dow

n syndrome is a burden.

Even pro-life advocates talk about those who “suffer” from Down syndrome. With language of suffering and lists of problems, it is no wonder that women abort when faced with the news that their child has an extra 21st chromosome.

And yet this automatic assumption that Down syndrome brings with it only tragedy belies the studies that demonstrate the positive impact children with Down syndrome have within their families, the ever-increasing potential for learning and participation in community life, and the testimonies of adults with Down syndrome that theirs is a life worth living.

Even as maternal age increases, the incidence of children born with Down syndrome is decreasing. Studies show that 85 percent to 90 percent of women with a prenatal diagnosis of Down syndrome choose to terminate their pregnancies.

We declined prenatal testing not because we assume this baby in my womb has the typical 46 chromosomes.

We declined prenatal testing because we would welcome another child with Down syndrome.

[September 14, 2010, http://parenting.blogs.nytimes.com/2010/09/14/deciding-not-to-screen-for-down-syndrome/?pagemode=print ; 19 Sept 2010, N. Valko RN…
Comment: I had my Karen at age 33 in the early 1980s. She was born with both Down Syndrome and a severe heart defect. The cardiologist said he would "support us either way" regarding surgery even though he said her chances of survival were 80-90%. I was appalled. As a nurse, I knew this doctor would have strenously argued for lifesaving surgery and could even obtain a court order for surgery-if Karen didn't have Down Syndrome. Sadly, Karen died of a rare complication of pneumonia just prior to her scheduled heart surgery at 6 months of age. My husband, a doctor himself, and I never regretted trying to save her life. However, Karen did open our eyes to the sad fact of medical discrimination against people with disabilities.

Later on, we had another baby and decided against amniocentesis because of the potential risk to the baby and also because we would never abort our child. Many people thought we were either terribly brave or terribly stupid. We were neither. We made sure we were informed by doing our own research. One fact I stumbled upon when I called every geneticist and department at every hospital in our area was that each hospital had a different criteria for what what counts as a miscarriage caused by amniocentesis. In one case, a woman who miscarried a healthy baby 3-4 days after her amnio found out that her miscarriage wouldn't count as being caused by the amnio because, at her hospital, that was less than their criteria of 2 days after amniocentesis.

I would like to ask genetic counselors if the research for this has improved. Parents need accurate information as well as support for loving their baby regardless of his or her condition.
    By the way, the comments section on this article shows overwhelming support for having children with Down Syndrome by parents who already have had a child with DS.
Nancy V.]