Osteochondrodysplasias, or skeletal dysplasias, are a genetically heterogenous group of over 350 disorders. Many of these disorders can develop in the prenatal period, which are diagnosed through an ultrasound. Differentiating these disorders is challenging because the occurrence is rare and the ultrasound findings do not identify a specific disorder. However, doctors should differentiate known lethal disorders from nonlethal disorders before delivery, determining delivery management plans and recurrences risks to at-risk couples to improve patient care.
Diagnosis of Prenatal Skeletal Dysplasias
An ultrasound evaluation can diagnose prenatal-onset skeletal dysplasias, and confirmed by both molecular testing through invasive procedures, post-delivery radiographs, and autopsy. Receiving a precise diagnosis can be challenging. However, with two and three-dimensional ultrasound technology can identify abnormal skeletal elements, and analyzing these findings can lead to a differential diagnosis.
What is Skeletal Dysplasias?
By definition, skeletal dysplasias refers to a group of more than 350 disorders of abnormalities of the skeleton. Although the occurrence of each individual skeletal dysplasia may be rare, as a group, it counts for a significant number of newborns with anomalies. Many of these disorders are associated with lethality because of pulmonary insufficiency or concomitant visceral abnormalities. Additionally, many of these disorders result from new mutations and occur in families with no history of skeletal dysplasias.
Pregnancy and Delivery
Improvements in the obstetrical care of both mother and infants have led to many considerations for delivery for individuals affected by skeletal dysplasias. There has been an increasing number of those affected by skeletal dysplasias in advocacy groups to undergo pregnancies with minimal complications, changing many professional opinions regarding the outcome of these pregnancies. However, there are many issues that need to be addressed before delivery.
Many women whose fetuses have a genetic disorder or malformation do not choose to continue with the pregnancy. For those who wish to continue the pregnancy to term, it is essential to assess the fetus for signs of lethality, including hydrops fetalis, severe polyhydramnios, visceral abnormalities, and diminished femur length to abdominal circumference ratio.
Many fetuses with non-lethal skeletal dysplasias can have some respiratory issues for immediate newborns. Obstetricians should be made aware that many fetuses with both lethal and non-lethal skeletal dysplasias delivered at or near term manifest relative macrocephaly. Vaginal delivery may not be readily accomplished.
Original Manuscript: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2832320/
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