The Reliability of Ultrasound Markers in Identifying Fetuses With a Life-Limiting Skeletal Dysplasia.
Haley M CraneErica SchindewolfNatalie BurrillSuzanne DebariNahla KhalekChristina Paidas TeefeyShelly SoniBeverly ColemanJulie S MoldenhauerJuliana S GebbPublished in: Prenatal diagnosis (2024)
In our cohort, the presence of two life-limiting ultrasound markers prior to 28 weeks was highly suggestive of a life-limiting dysplasia, whereas the absence of life-limiting markers was strongly associated with a non-life-limiting dysplasia throughout gestation. Nonetheless, individual markers had a poor predictive value of lethality, and a life-limiting diagnosis ≥ 28 weeks is challenging based on ultrasound markers alone. This highlights the importance of integrating thorough sonography, genetic testing, and balanced parental counseling.