| Autor: |
Gray, KJ |
| Předmět: |
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| Zdroj: |
BJOG: An International Journal of Obstetrics & Gynaecology; Jan2021, Vol. 128 Issue 2, p439-439, 1p |
| Abstrakt: |
Chromosomal microarray (CMA) and whole-exome sequencing (WES) diagnose prenatal genetic disorders in fetuses with structural anomalies that previously were detected postnatally or not at all. Prenatal CMA and WES detect known genetic disorders not suspected based on the prenatal phenotype, as well as variants of uncertain significance (VUS) whose effect on the fetus and/or child are unclear. Mardy et al. additionally remind us that even when the initial CMA result is a VUS, further testing (including testing parental samples) can often refine variant classification. [Extracted from the article] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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