Correlation of prenatal ultrasound diagnosis and pathologic findings in fetal anomalies

This retrospective study compared the prenatal ultrasound (US) diagnosis wi th autopsy findings in 61 intact fetuses following induced abortion and 36 fragmented fetuses from dilatation and evacuation (D&E). In intact fetuses, complete agreement between US diagnosis and autopsy findings was achieved in 65.6% of cases in the central nervous system (CNS) and 47.5% in other so matic organ systems (SOS). There were major differences between US and auto psy findings involving the CNS in 6.5% of cases and SOS in 27.9%. Correlati on was better for evaluation of renal anomalies (complete agreement in 63.6 % of Il suspected cases, 2 false-positive and no false-negative cases) than congenital heart disease (complete agreement in 27.3% of 11 suspected case s, 5 false-positive and 3 false-negative cases). In D&E specimens, a prenat al diagnosis of neural tube defect (NTD) was confirmed in 90% of cases. How ever, due to fragmentation of fetal parts, the US diagnosis in the CNS coul d not be confirmed totally.(69.4%) or partially (2.8%) in fetuses with chro mosomal abnormalities (ChA) or multiple congenital anomalies (MCA). Nonethe less, the US diagnosis of SOS was confirmed in six cases on D&E, including Meckel-Gruber syndrome, cystic hygroma, renal agenesis with contralateral r enal dysplasia, cardiac defect, fetal hydrops, and tracheal atresia. Our re sults show that a thorough autopsy of an intact fetus after abortion is nec essary to confirm prenatal diagnosis and allow proper management and counse ling. The pathologic examination of D&E specimens can reliably confirm the US diagnosis of NTD, but it is very limited in identifying other fetal anom alies.