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Last Posted: Jan 20, 2023
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Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne Alicia B et al. Nature medicine 2023 1

Pregnancy loss and perinatal death are devastating events for families. We assessed ‘genomic autopsy’ as an adjunct to standard autopsy for 200?families who had experienced fetal or newborn death, providing a definitive or candidate genetic diagnosis in 105?families. Our cohort provides evidence of severe atypical in utero presentations of known genetic disorders and identifies novel phenotypes and disease genes. Inheritance of 42% of definitive diagnoses were either autosomal recessive (30.8%), X-linked recessive (3.8%) or autosomal dominant (excluding de novos, 7.7%), with risk of recurrence in future pregnancies.

Rapid Nanopore Sequencing–Based Screen for Aneuploidy in Reproductive Care
S Wei et al, NEJM, August 18, 2022

Aneuploid pregnancies are a major cause of pregnancy loss, fetal structural anomalies, and developmental delays. Consequently, the identification of genetic abnormalities is an important component of prenatal and fertility care. We developed and validated a new short-read–based approach for library preparation, sequencing, and data analysis that enables accurate, inexpensive, and same-day genomewide aneuploidy detection with the use of a palm-sized, nanopore-based DNA sequencer.

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