In our case, the findings were much more subtle. Increased bone density at 18 weeks is very difficult to determine because of the lack of standards of bone echogenicity. We compared the bone echogenicity with those of other fetuses of the same gestational age using the same ultrasound equipment and, after consultation with other ultrasonographists, recommended termination of pregnancy. Associated anomalies These are listed in Table 1. The severe multi-systemic manifestations of the lethal form of osteopetrosis are associated with an extremely poor prognosis.
Death usually occurs in infancy or early childhood.
Management Presently, the prenatal diagnosis of osteopetrosis early in pregnancy is an indication for the termination of pregnancy. During the third trimester, the decision may be difficult due to legal, moral or religious considerations. Lethal osteopetrosis with multiple fractures in utero. Sly WS, Whyte MP, Sundaram V et al. Fischer A, Friedrich W, Levinsky R, et al.