Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis
| العنوان: | Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis |
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| المؤلفون: | Leïla, Ghesh, Julie, Désir, Damien, Haye, Pauline Le, Tanno, Françoise, Devillard, Benjamin, Cogné, Martina, Marangoni, Laura, Tecco, Delphine, Heron, Claudine, Le Vaillant, Madeleine, Joubert, Claire, Beneteau |
| المصدر: | Clinical Genetics. 103:560-565 |
| بيانات النشر: | Wiley, 2022. |
| سنة النشر: | 2022 |
| مصطلحات موضوعية: | Genetics, Genetics (clinical) |
| الوصف: | Hydrops fetalis is a rare disorder associated with significant perinatal complications and a high perinatal mortality of at least 50%. Nonimmune hydrops fetalis (NIHF) is more frequent and results from a wide variety of etiologies. One cause of NIHF is lymphatic malformation 6 (LMPHM6) due to biallelic loss-of-function (LoF) variants in PIEZO1. Most individuals are diagnosed postnatally and only few clinical data are available on fetal presentations. We report six novel biallelic predicted LoF variants in PIEZO1 identified by exome sequencing in six fetuses and one deceased neonate from four unrelated families affected with LMPHM6. During the pregnancy, most cases are revealed by isolated NIHF at second trimester of gestation. At post-mortem examination ascites, pleural effusions and telengectasies can guide the etiological diagnosis. We aim to further describe the perinatal presentation of this condition which could be underdiagnosed. This article is protected by copyright. All rights reserved. |
| تدمد: | 1399-0004 0009-9163 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e417dd603f4817e1abc77932e574465 https://doi.org/10.1111/cge.14274 |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....3e417dd603f4817e1abc77932e574465 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 13990004 00099163 |
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