کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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3966608 | 1256174 | 2015 | 7 صفحه PDF | دانلود رایگان |
Genetic disease can occur due to imbalance of whole chromosomes, smaller chromosome microdeletions or duplications, or at the single gene level where even a single base change can cause significant disease. This review focuses on the methods available to achieve genetic diagnosis of a fetus in pregnancy, both in the context of a family history of a known disease-causing mutation and where there is clinical suspicion of a genetic disorder in the absence of family history, usually based on ultrasound findings. Until recently, genetic testing of a fetus invariably required invasive procedures to sample fetal tissue, with associated risk of miscarriage. However, non-invasive methods of achieving prenatal diagnosis by sampling fetal DNA present in maternal blood have undergone considerable development. Current applications and future utility of these techniques are discussed.
Journal: Obstetrics, Gynaecology & Reproductive Medicine - Volume 25, Issue 11, November 2015, Pages 307–313