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Widening choices in prenatal planning

BY DI EDITORIAL BOARD | FEBRUARY 23, 2009 7:30 AM

The UI Hygienic Laboratory is now the first state public-health institution to offer a new method of screening for early term birth defects. The test, called an “integrated screen” because it cross-references samples from first and second trimester pregnancies in the evaluation, is notable for its miniscule margin of error and is aimed in particular at the early detection of Down syndrome, Edwards Syndrome, and open neural-tube defects such as spina bifida. All three genetic disorders have a similar rate of occurrence, 1 in around 1,000, although because the rate of survival for Edwards syndrome (or Trisomy 18) is incredibly low, the occurrence among the successfully birthed is closer to 1 in 6,000. Having access to this early information is essential for new parents, because a positive in the Iowa Maternal Integrated Screen could mean a drastic reordering of life plans.

Down syndrome is caused by a malformation of the 21st chromosome, and among the condition’s effects are cognitive disability and an increased risk of heart and thyroid defects. Edwards syndrome carries a lesser risk of manifesting, simply because the number of successful births is so low, but the expectations are comparable: Cognitive, heart, et cetera. “Open neural-tube defects” is a more general term, describing a number of conditions arising from a prenatal deformity of the young spinal cord. Before the integrated test, detection of these disorders would often come late in the pregnancy, resulting in a lack of choice or the controversial late-term abortion, or false-positives prompted unnecessary and possibly damaging procedures, such as an amniocentesis.

Now, the new screens being offered don’t solve the problem of whether to seek termination, but time to prepare is important in either case. The problems presented to a family raising a child with a congenital mutation are extremely varied, but rarely is it an easy situation to navigate. For those born along the spectrum of cognitive effect severity, education and social peer-grouping have to be approached creatively by parents, physicians, and teachers, as well as the individual themselves. For physical disability, an entire environment may have to be altered or created in accommodation. The earlier a parent knows the odds and risks, the better the child’s, and parents’, quality of life.

The ethics involved in this new, reliable, available branch of maternal medicine are not themselves that new. The battle for rights, for mother or child, for life, will go on as it has. But a family should have the right to as much detailed information as possible before concluding which commitment to make: Maybe a life-changing, lifelong struggle; maybe termination. Both are binding, after all. That such a valuable tool in family planning — with the cooperation and blessing of Iowa’s Department of Public Health “Center for Congenital and Inherited Disorders” — exists in our community is a major achievement, for the university and for new parents all over the state.


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