Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
| العنوان: | Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death |
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| المؤلفون: | Peer Arts, Anne O'Donnell-Luria, David Lawrence, Hamish Scott, Ali Moghimi, Chirag Patel, Alicia Byrne, Thi Thuong Ha, Thessa Kroes, Mathew Wallis, John Toubia |
| المساهمون: | Byrne, Alicia B, Arts, Peer, Ha, Thuong T, Kassahn, Karin S, Babic, Milena, Frank, Mahalia SB, Feng, Jinghua, Wang, Paul, Lawrence, David M, Eshraghi, Leila, Arriola, Luis, Toubia, John, Gardner, Alison E, Morrow, Rebecca, Schreiber, Andreas W, King-Smith, Sarah L, Jackson, Matilda R, Scott, Hamish S, Broad Institute Center for Mendelian Genomics, Genomic Autopsy Study Research Network |
| المصدر: | Nature Medicine. 29:180-189 |
| بيانات النشر: | Springer Science and Business Media LLC, 2023. |
| سنة النشر: | 2023 |
| مصطلحات موضوعية: | autopsy, female, prenatal diagnosis, spontaneous abortion, etiology, perinatal death, genomics, genetics, human, pregnancy, General Medicine, General Biochemistry, Genetics and Molecular Biology |
| الوصف: | Refereed/Peer-reviewed 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. We report that at least ten families (5%) used their diagnosis for preimplantation (5) or prenatal diagnosis (5) of 12 pregnancies. We emphasize the clinical importance of genomic investigations of pregnancy loss and perinatal death, with short turnaround times for diagnostic reporting and followed by systematic research follow-up investigations. This approach has the potential to enable accurate counseling for future pregnancies. |
| تدمد: | 1546-170X 1078-8956 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a7411c970105e5e9bb439ef241d4f9f https://doi.org/10.1038/s41591-022-02142-1 |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....4a7411c970105e5e9bb439ef241d4f9f |
| قاعدة البيانات: | OpenAIRE |
Find this article in full text from Springer Verlag. | تدمد: | 1546170X 10788956 |
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