New Genetic Testing Options for High-Risk Pregnancies, Though Not All-Encompassing

A new option in prenatal screening is giving expectant mothers a less-invasive alternative to genetic testing. The new test, called a cell free fetal DNA test, isolates and analyzes fetal DNA from a blood sample taken from the pregnant mother. Though the FDA does not regulate this type of genetic test, many companies are now offering it to women at higher risk due factors such as advanced maternal age to identify chromosomal disorders.

The new cell free fetal DNA test has a clear advantage to its “gold standard” alternatives: there is no risk of harm to the fetus as there is with procedures like amniocentesis or chorionic villus sampling, where the risk of miscarriage is increased due to needling the womb to collect fetal cells. However, though hundreds of thousands of pregnant mothers have opted for this kind of test, it does not give doctors a complete picture of the baby’s chromosomes for a proper diagnosis, and test results often produce false alarms. Dr. Lee Shulman, obstetrician and geneticist at Northwestern University in Chicago points out that “Patients need to understand that while this is better, it is not a diagnostic test…” and that since the technology is so new, there is greater room for error. This new version of prenatal screening may give expectant parents peace of mind in higher risk pregnancies, though it does not provide for a full-spectrum genetic testing analysis.

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