This study aims to compare associated malformation rates in an atypical perinatal event cohort vs newborns with GS surviving longer than 24 hours.
A national prospective GS database was analyzed for cases with an atypical perinatal event. Associated anomaly rates were compared between this cohort and babies surviving longer than 24 hours.
Twenty-three atypical perinatal events (2 spontaneous abortions, 7 stillbirths, 11 terminations, and 3 deaths within 24 hours) were identified from 529 total GS cases. Autopsies in 14 (61%) of 23 identified at least 1 anomaly (excluding intestinal, patent ductus arteriosus, and undescended testicle) in 11 (78.6%) and a 鈥渓ethal鈥?anomaly in 4 (36%). The associated anomaly rate in newborns surviving longer than 24 hours was 7.3%(37/506; P < .0001). The anomalies in the atypical perinatal event cohort were musculoskeletal (35%), cardiac, central nervous system, pulmonary, and genitourinary (12%each). Among survivors, the most common anomalies were cardiac (38%), genitourinary (32%), musculoskeletal (16%), and central nervous system (8%).
Rates of associated anomalies are significantly higher in fetuses experiencing atypical perinatal events and may represent the 鈥渉idden mortality鈥?of GS.