Number of Risk Factors in Down Syndrome Pregnancies

Deana J. Hussamy, Christina L. Herrera, Diane M. Twickler, Donald D. Mcintire, Jodi S. Dashe

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


Objective The objective of this study was to evaluate risk factor prevalence in pregnancies with fetal Down syndrome, in an effort to characterize efficacy of population-based screening. Study Design Retrospective review of singleton pregnancies with delivery of live born or stillborn infant with Down syndrome from 2009 through 2015. Risk factor categories included maternal age ≥35 years, abnormal serum screening, identification of ≥1 ultrasound marker at 16 to 22 weeks (nuchal thickness ≥6 mm, echogenic intracardiac focus, echogenic bowel, renal pelvis dilatation, femur length <third percentile), and detection of a major fetal anomaly. Statistical analyses included χ 2 test and Mantel–Haenszel χ 2 test. Results Down syndrome infants represented 1:428 singleton births. All risk categories were assessed in 125 pregnancies and included abnormal serum screen in 110 (88%), ≥1 ultrasound marker in 66 (53%), and ≥1 anomaly in 41 (34%). The calculated risk was at least 1:270 in 93% of Down syndrome pregnancies. More pregnancies had multiple risk factors than had a single risk factor, 90 (72%) versus 30 (24%), p < 0.001. An abnormal ultrasound marker or anomaly was identified in >50% of fetuses in women <35 years and in >75% of those 35 years and older. Conclusion In a population-based cohort, sensitivity of second-trimester Down syndrome screening was 93%, with multiple risk factors present in nearly three-fourths of cases.

Original languageEnglish (US)
JournalAmerican Journal of Perinatology
StateAccepted/In press - Jul 17 2018


  • Down syndrome
  • serum aneuploidy screening
  • ultrasound markers

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynecology


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