Fetal Skeletal Dysplasias

Objectives To assess the utility of biometric indices and amniotic fluid volume in identifying fetuses with lethal skeletal dysplasia. Methods A review of pregnancies with sonographic diagnosis of skeletal dysplasia between January 1997 and March 2012 from a single institution was conducted. Biometric indices and amniotic fluid volumes were reviewed from the initial targeted sonograms and all subsequent examinations. Outcomes were verified in all cases. Pregnancies that resulted in fetal or neonatal death were considered to have lethal dysplasia, and those with survival to hospital discharge were considered to have nonlethal dysplasia. Results Of 45 fetuses with suspected skeletal dysplasia, 27 (60%) survived to hospital discharge; 9 (20%) died in the immediate neonatal period; 2 (4%) resulted in stillbirth; and in 7 cases (16%), pregnancy termination was elected. Those with lethal dysplasia were more likely to have hydramnios on initial detection than those who survived to hospital discharge (83% versus 27%; P < .01). Pregnancies complicated by lethal skeletal dysplasia had a significantly lower femur length-to-abdominal circumference ratio and were more likely to have a ratio below 0.16 than those with neonatal survival (91% versus 11%; P < 0.01). The lowest femur length-to-abdominal circumference ratio and the proportion with a ratio below 0.16 at any point in gestation were significantly different between those with lethal and nonlethal dysplasia (P< .01). As fetal size increased with advancing gestation, the relationship of sonographic parameters (eg, femur length-to-abdominal circumference ratio) became more pronounced. There was no infant survival when hydramnios was encountered at any point during gestation in the setting of a femur length-to-abdominal circumference ratio below 0.16. Conclusions In our series, a femur length-to-abdominal circumference ratio below 0.16 in conjunction with hydramnios effectively identified fetuses with lethal skeletal dysplasia.