Potential Use of Fetal Genetic Material in Maternal Circulation for Prenatal Noninvasive Diagnosis of Genetic Disease

Megawati, Anak Agung Dewi (2016) Potential Use of Fetal Genetic Material in Maternal Circulation for Prenatal Noninvasive Diagnosis of Genetic Disease. Warmadewa Medical Journal, 1 (1). pp. 1-9. ISSN 2527-4627

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Abstract

Prenatal diagnostic technique is used to determine whether the unborn fetus is affected with a genetic disorder or other abnormality. This technique is generally carried out for a genetic disease that is not treata-ble, in which the termination should be considered. This technique is also performed in cases that require im-mediate action during the prenatal period and in conditions that can lead to morbidity or mortality of the mother. Prenatal diagnosis can be done by invasive and noninvasive methods. Invasive methods such as amni-ocentesis and chorionic villus sampling (CVS) have a risk of causing disability and even death of the fetus. While noninvasive approach by ultrasound is not sufficiently accurate for the diagnosis of genetic diseases, therefore further fetal sampling is required. Noninvasive prenatal diagnosis is a new type of genetic testing done through taking fetal cells, fetal DNA and mRNA, which are found in maternal blood circulation. In this review, we present development of research, constraints, and potential clinical applications of these three methods for noninvasive sampling of the fetus.

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