کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
11008329 | 1840457 | 2018 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Prenatal diagnosis of genetic disorders
ترجمه فارسی عنوان
تشخیص پیش از تولد اختلالات ژنتیکی
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کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
زنان، زایمان و بهداشت زنان
چکیده انگلیسی
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 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.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Obstetrics, Gynaecology & Reproductive Medicine - Volume 28, Issue 10, October 2018, Pages 308-313
Journal: Obstetrics, Gynaecology & Reproductive Medicine - Volume 28, Issue 10, October 2018, Pages 308-313
نویسندگان
Katie Johnson, Jacqueline Eason,