IDENTIFYING ASSOCIATIONS BETWEEN GENETIC CONDITIONS IN OFFSPRING AND PREGNANCY HEALTH COMPLICATIONS

Prior research has identified associations between pregnancy complications and specific genetic diagnoses in offspring.

The purpose of this study is to provide a broader investigation of associations between infant genetic diagnoses and pregnancy complications.

Retrospective chart review of birthing parent-infant dyads born at Duke University (2013-2021) identified 236 birthing parents who had infants postnatally diagnosed with genetic diseases (exposed group) and 472 matched dyads without concern for newborn genetic disease (unexposed group). Logistic regression examined associations between pregnancy complications and genetic diseases in offspring.

The risk of gestational diabetes was elevated among birthing parents of infants with aneuploidy (risk ratio [RR] = 1.63; 95% confidence interval [CI]: 1.02, 2.59) when controlled for birthing parent age. The risk of preeclampsia was elevated among birthing parents of infants with imprinting conditions (RR = 3.31; 95% CI: 1.29, 8.49) when controlled for birthing parent age. The presence of any infant genetic disease was associated with an increase in placental disorders (RR = 1.98; 95% CI: 1.61, 2.43), including a 2.25-fold increase in placental infarction (RR = 2.25; 95% CI 1.72, 2.93).

These findings provide additional evidence into relationships between genetic diseases in offspring and pregnancy complications in birthing parents and may guide identification of pregnancies that would benefit from expanded prenatal and antenatal genetic screening for earlier identification and treatment of genetic conditions.