Genetic Counseling

School of Health and Human Sciences

Courtney KissThe Natural History of Pregnancies Diagnosed with Down Syndrome: Developing Counseling and Pregnancy Management Guidelines
Capstone Project Committee
: Shierina Fareed (Statistical Consultant), William Goodnight, MD, MSCR, Sat Gupta, PhD (Statistical Consultant), Sally Harris, MS, CGC, Randi Stewart, MS, CGC
The natural history of pregnancies following the fetal diagnosis of Down syndrome remain poorly described, thus counseling and prenatal management of such pregnancies is inconsistent. The specific aim of this study was to describe outcomes in pregnancies diagnosed with Down syndrome and determine what predictors including ultrasound anomalies, markers of aneuploidy or other findings are associated with adverse pregnancy outcomes in an effort to establish guidelines for counseling and management. Ninety four prenatal cases of Down syndrome were identified through The University of North Carolina Health Care system cytogenetic database between January 1, 2000 to December 31, 2010 and a retrospective records review was performed. Eighty nine cases remained for inclusion and data was available for 23 cases with continuing pregnancies. Analysis was performed with Wilcoxon rank sum, Fisher’s exact test and the chisquare test. A significant association between the presence of a congenital anomaly and the occurrence of an adverse pregnancy complication was found. There was a significant difference in the median maternal age between the pregnancies with fetal death (defined as a second or third trimester loss) and the pregnancies with no fetal death. These results suggest that the presence of a congenital anomaly, or maternal age greater than 40 years in a pregnancy diagnosed with Down syndrome, may benefit from additional antenatal monitoring.
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