OPINION:
A disturbing report from The New York Times on the unreliability of prenatal blood testing for genetic abnormalities should do more than make us wish that the testing companies were better regulated. It ought to make us question the assumptions underlying prenatal testing for fetal disability and the broader societal effects of a practice that is becoming more widespread.
In my work as a radiologist, I perform obstetric ultrasounds every day, helping to manage each pregnancy toward the best possible outcome: a healthy baby in a healthy mother’s arms. Thankfully, the screening ultrasounds I perform on expectant mothers almost always reveal a thriving and healthy fetus. I relish relaying the good news to mom and dad and being part of that happy moment.
Unfortunately, there are rare instances when instead of good news, I have to communicate a troubling finding. For example, a first-trimester fetus with nuchal translucency (a cystic appearance of the back of the neck) of 3 mm or more has more than a 10-fold risk for a chromosomal abnormality like Down syndrome. If follow-up testing reveals this chromosomal anomaly, my little patient’s life is likely to be ended through abortion.
It is this hard experience with ultrasound screening that made me especially sensitive to the Times’ recent report on the gross inaccuracy of prenatal blood tests. These tests, unregulated by the Food and Drug Administration and performed on up to a third of pregnant American women, are marketed as “highly accurate” and “reliable,” but turn out to be wrong more than 80% of the time. The Times interviewed several couples who got false positive results indicating a high probability for devastating chromosomal abnormalities like Cri du Chat and Prader-Willi syndromes. These results are heavy on fear but light on important balancing information like how frequently false positives occur.
The report also reveals that often the result of these false positives is the abortion of a perfectly healthy baby. It recounts examples of parents who learned that their baby was healthy, only after aborting him or her.
The Times rightly decries these instances as well as the way that these false positive results are often followed up with a costly and risky amniocentesis. I know of a case in which, after a “successful” ultrasound-guided amniocentesis for a baby at risk of Down syndrome, the mother came back to the clinic an hour later, terrified and gesturing frantically at her soaked skirt and legs. The amniocentesis had caused her water to break. Twenty weeks pregnant, her baby could not be saved, a baby we later learned did not have Down syndrome.
The ethical considerations of prenatal screening for disability should go well beyond those considered by the Times, though. Prenatal diagnosis is a medical procedure when it serves to improve the management of mother and child and works toward a safe delivery for both. But as a means of screening for the presence of a disability, or a characteristic like female sex, prenatal testing is used to identify “undesirable” traits so the people who carry these traits can be eliminated. Used in this way, we risk falling into the mistake made by Iceland, a country that celebrated the end of Down syndrome when it perfected the identification and elimination through abortion of children who happen to have an extra chromosome.
Widespread prenatal screening for disability also stigmatizes people with disabilities as somehow uniquely burdensome to parents, even though research into families of disabled children challenges this view. All children demand much from parents, each of them more or less at one time or another.
Perhaps the discrimination faced by people who have disabilities before birth substantially contributes to the difficulties they later encounter. We can do better as a society by becoming more inclusive and accepting of those with disabilities, understanding that — even from the very beginning — the person is so much more than the disability they happen to have.
• Dr. Grazie Pozo Christie is a senior fellow for The Catholic Association.
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