Abstract

Prenatal genetic diagnosis (PGD) options are rapidly evolving to include genome/exome sequencing (GS/ES), molecular panels, and single-gene cell-free DNA (NIPT) in addition to established karyotype/microarray. However, there is significant regional variance in test uptake (patient desire, insurance). We studied PGD uptake in cases of suspected fetal skeletal dysplasia over 10 years in the southeast US.

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