Accuracy of Routine Prenatal Genetic Screening in Patients Referred for Genetic Counseling

American Journal of Perinatology
Marisa Gilstrop ThompsonAnthony Sciscione

Abstract

The American College of Obstetricians and Gynecologists (ACOG) guidelines recommend routine prenatal screening for genetic diseases that could affect the pregnancy. We sought to determine the rate of missed genetic information in the general obstetrician's routine prenatal genetic screening process. This is a sequential case series of women referred for genetic counseling between March and August of 2015. Once identified, all women completed a personalized genetic history/exposure intake form (GHEF) created by our certified genetic counselors, followed by an in-person genetic counseling session with pedigree generation. The corresponding prenatal record was reviewed for genetic history obtained by the referring provider, most often utilizing the standardized ACOG prenatal intake form's genetic and family history sections. This information was then compared with that discovered in the GHEF and through the in-person genetic counseling session. Missed genetic information was defined as information discovered on the GHEF or during the in-person genetic counseling session which was not noted on the prenatal genetic screening document from the obstetric provider. Missing genetic information that lead to a change in clinical care, eit...Continue Reading

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