Noninvasive screens that look for abnormal fetal genomes often reveal hard-to-interpret results, raising challenging questions about selective abortion and eugenics
Imagine you are an expectant parent. Just a couple of months into your pregnancy, you opt for an easy genetic screen. A result comes back: the fetus is likely missing a chunk of DNA at site 11.2 on the long arm of the 22nd chromosome—a variant associated with serious medical and developmental issues.
Confronted with such profound uncertainty, what do you do? Follow up with traditional diagnostic testing, with its invasiveness, discomfort and small risk of miscarriage? And if the result is confirmed, do you abort the pregnancy? Prenatal screening is big business. The annual market for NIPT is already around $4 billion dollars and is growing rapidly; like other prenatal genetic tests, it is not regulated in the U.S.
But this question of false positives only scratches the surface of the myriad dilemmas unleashed by cutting-edge prenatal screening technologies such as NIPT and preimplantation genetic diagnosis —a process in which a lab-fertilized embryo is screened for genetic disorders before being implanted into a womb.
If NIPT and PGD become as widespread and comprehensive as experts anticipate, many thousands of expectant parents a year will learn that their fetus has a pathogenic variant. But we will not always be able to tell them what that means for their potential child’s future. NIPT and PGD therefore raise ethical issues that do not fit neatly into futuristic discussions of “designer babies” or entrenched debates about abortion.
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