Fetal screening: To test or not to test?

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When I was a student midwife I was doing an initial prenatal visit with a couple, which included reviewing options for fetal screening tests. As I was telling them about testing options, the father of the baby interrupted me and said, “We'll do it all. I want to guarantee a perfect baby.”

My immediate response was to tell to him that maybe he should not be having children at all. I'll admit that it was rather harsh and impulsive, but it's still a response that I stand behind today, almost three years later. 

My response to the expectant father came more from my experience as a parent than from my clinical training. I have two children on the autism spectrum. No test done during my pregnancies could have predicted or prevented my boys' disabilities. 

I have friends with children who suffer from Tourette syndrome, cerebral palsy, bipolar disorder, addictions and schizophrenia. Again, no prenatal tests could have diagnosed these “imperfections.” 

In this age of modern medicine we are able to do easy and noninvasive screening tests for a spectrum of genetic disorders and open neural tube defects. Some anomalies are even repairable with cutting edge fetal surgery. 

More invasive tests such as amniocentesis and chorionic villus sampling are done when there is family history, advanced maternal age or another medical indication, like a positive screening test. These tests allow for specific diagnoses of chromosomal abnormalities and genetic disorders. 

Each year, both the screening and diagnostic tests get more specific and are able to detect more problems. While many expectant parents opt for these tests, some choose not to test at all.  It is a very personal decision for a couple or family to make — one that needs to be respected by the provider. 

In a society so focused on perfection and subsequent blame for any inadequacies, is it any wonder that some scientists are marketing the ability to create designer babies? Now you can choose the gender, the eye color and hair color of your offspring, as well as prescreen for genetic anomalies. But what about the problems that children have that cannot be detected with any prenatal testing?

I wish now that I had asked the expectant father what constituted perfection in his mind.  Do diseases like asthma, diabetes or cancer make a child imperfect? I know many sullen, bratty and insolent children, and I'm certain there are no screening tests or medical interventions for those flaws. Would anyone choose to have those children if given the option?

Having a baby is not a perfect science. There are so many variables that go into healthy and happy children. Perfection is never a realistic goal when contemplating conception, regardless of how innovative prenatal testing is now or becomes in the future.

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