Investigating Pregnancy Outcomes After Abnormal Cell-Free Fetal DNA Test Results [25F

Abstract

INTRODUCTION: Cell-free fetal DNA (cfDNA) testing has increased sensitivity and specificity compared to other prenatal screening methods, but invasive diagnostic testing (IDT) is recommended for confirmation. We examined factors associated with pregnancy continuation or termination after abnormal cfDNA results. METHODS: We conducted a retrospective chart review of 39 women with abnormal cfDNA results between March 2012 and September 2015 at an urban academic hospital. We analyzed data using descriptive statistics, Fisher exact, and Wilcoxon rank-sum tests. RESULTS: Mean age was 33.9±7.6 years; 64% (25/39) were advanced maternal age and 67% (26/39) had abnormal ultrasounds. Median gestational age at time of cfDNA testing was 18 3/7 weeks (interquartile range 12 2/7, 20 5/7). CfDNA results included trisomy 21 (90%, 35/39), trisomy 18 (8%, 3/39), and both trisomy 21/monosomy X (3%, 1/39). Of 39 women, 22 (56%) continued and 10 (26%) terminated the pregnancy; six (15%) had fetal demises and one was lost to follow-up. For women continuing or terminating the pregnancy, pregnancy outcomes were not associated with cfDNA results (P>.99), maternal age (P=.74), race (P=.23), or having abnormal ultrasounds (P=.68). Only 13 women underwent IDT; all had trisomy 21. Of women continuing their pregnancies, 55% (12/22) declined further genetic counseling and 73% (16/22) declined IDT. Most women terminating their pregnancies (80%, 8/10) underwent IDT. Not pursuing IDT was associated with continuing the pregnancy (P=.006). CONCLUSION: Over half of women with abnormal cfDNA results continued the pregnancy and declined IDT. Most women terminating their pregnancy pursued IDT, suggesting that women considering termination undergo more confirmatory tests.