Predicting Lethality in Fetal Skeletal Dysplasias: Insights from a 10-Year Study at a Tertiary Care Hospital in Pakistan

Abstract excerpt

<title>Abstract</title> <p><bold>Introduction:</bold> Skeletal dysplasia comprises a diverse group of genetic disorders affecting bone and cartilage development, with significant perinatal morbidity and mortality. Prenatal diagnosis primarily relies on ultrasound; however, due to the heterogeneity of these disorders, additional genetic testing is often required. Lethality is typically predicted using sonographic...

Topics

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• Bone Diseases, Developmental
• Connective tissue disorders research
• Exome Sequencing
• Genomics and Rare Diseases
• Mutation
• Pregnancy
• Prenatal Screening and Diagnostics
• Ultrasonography, Prenatal

Identifiers and source

Literature Corpus work

67156ee4-4757-56a8-ad9a-1852faca20aa

DOI

10.21203/rs.3.rs-6238132/v1