Abstract

Skeletal dysplasias (SD) or osteochondrodysplasias encompass a heterogenous group of bone and cartilage disorders with over 450 subtypes of the condition classified prenatally. The most common subtype is osteogenesis imperfecta (16%) followed by thanatophoric dysplasia (14%) and achondrogenesis; these three comprise the majority of lethal skeletal dysplasias. Advances in imaging and antenatal testing have improved our ability to diagnose skeletal dysplasias prenatally. Lethal skeletal dysplasias, such as Thanatophoric dysplasia (TD), are often diagnosed in the first trimester due to the dramatic effects on chondrocyte development. Traditional management of expectant mothers with a fetus affected by a lethal skeletal dysplasia (LSD) is recommended termination. However, the management in the continuation of these pregnancies requires a multidisciplinary approach, which includes extensive counseling during the antepartum period in order to educate the parents as to possible outcomes, maternal complications, and mode of delivery. We present a case which highlights the pertinent issues for caregivers to consider when presented with a prenatally diagnosed lethal skeletal dysplasia in conjunction with parents desire for pregnancy continuation.

Keywords

pregnancy, lethal skeletal dysplasias, thanatophoric dysplasia, maternal fetal medicine