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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.


Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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