Chromosomal microarray should be performed for cases of fetal short long bones detected prenatally
| Autor: | Amihood Singer, Morad Khayat, Rachel Michaelson-Cohen, Hagit Daum, Lena Sagi-Dain, Keren Tzadikevitch Geffen, Shay Ben-Shachar, Rivka Sukenik Halevy, Michal Feingold-Zadok, Idit Maya |
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| Rok vydání: | 2020 |
| Předmět: |
Short long bone
medicine.medical_specialty Percentile Fetus 030219 obstetrics & reproductive medicine Microarray business.industry Obstetrics Obstetrics and Gynecology General Medicine Bone length 03 medical and health sciences 0302 clinical medicine 030220 oncology & carcinogenesis Cohort Medicine Copy-number variation business Likely pathogenic |
| Zdroj: | Archives of Gynecology and Obstetrics. 303:85-92 |
| ISSN: | 1432-0711 0932-0067 |
| DOI: | 10.1007/s00404-020-05729-6 |
| Popis: | To investigate the prevalence of pathogenic and likely-pathogenic variants detected by chromosomal microarray analysis (CMA), among pregnancies with fetal short long bones diagnosed by ultrasound. The study cohort was based on cases of chromosomal microarray analyses performed nationwide for the indication of short long bones. CMA was performed in 66 cases of short long bones. There were 4 cases with a pathogenic/likely pathogenic result (6%). The rate of chromosomal abnormalities was significantly higher compared to the background risk for copy number variations (CNVs) in pregnancies with no sonographic anomalies (P |
| Databáze: | OpenAIRE |
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