IDENTIFYING ASSOCIATIONS BETWEEN GENETIC CONDITIONS IN OFFSPRING AND PREGNANCY HEALTH COMPLICATIONS

Abstract

BackgroundPrior research has identified associations between pregnancy complications and specific fetal genetic diagnoses in the offspring. ObjectiveThe purpose of this study is to provide a large-scale investigation of associations between infant genetic diagnoses and pregnancy complications. MethodsRetrospective chart review of maternal-infant dyads born at Duke University (2013-2021) identified 236 mothers who had infants with genetic diseases (exposed group) and 472 matched dyads without concern for newborn genetic disease (unexposed group). Logistic regression examined associations between gestational factors and infant genetic diseases. ResultsThe risk of gestational diabetes was elevated among mothers of infants with aneuploidy (RR=1.65; 95% CI 1.05,2.61). The risk of preeclampsia was elevated among mothers of infants with imprinting conditions (RR=5.08; 95% CI 2.41,10.73). 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). ConclusionsThese findings provide insight into relationships between fetal genetic diseases and gestational complications and may guide identification of pregnancies that would benefit from expanded prenatal and antenatal genetic screening for earlier identification and treatment of genetic conditions. SYNPOSISO_ST_ABSStudy questionC_ST_ABSAre there associations between genetic conditions in offspring and pregnancy health complications? Whats already knownPrior research has identified associations between pregnancy complications and specific fetal genetic diseases, including pregnancy-related hypertension/preeclampsia in association with EP300-related Rubinstein-Taybi syndrome. What this study addsThis retrospective cohort study provides the first comprehensive investigation into potential links between offspring genetic diagnoses and pregnancy complications, identifying associations between aneuploidy and gestational diabetes, imprinting disorders and preeclampsia, and fetal genetic conditions and specific placental abnormalities. These findings can inform future medical management of pregnancies affected by a fetal genetic condition and help guide the future development of algorithms to prospectively identify parent/infant dyads who may benefit from expanded prenatal and neonatal genetic testing.