Prenatal Diagnosis of Uniparental Disomy in Cases of Rare Autosomal Trisomies Detected Using Noninvasive Prenatal Test: A Case of Prader–Willi Syndrome
Sign Up to like & getrecommendations! Published in 2023 at "Diagnostics"
DOI: 10.3390/diagnostics13040580
Abstract: Rare autosomal trisomies (RATs) other than common aneuploidies can be detected using noninvasive prenatal testing (NIPT). However, conventional karyotyping is insufficient for evaluating diploid fetuses with uniparental disomy (UPD) due to trisomy rescue. Using the… read more here.
Keywords: noninvasive prenatal; uniparental disomy; rare autosomal; autosomal trisomies ... See more keywords