Potensi Penggunaan Materi Genetik Fetus pada Sirkulasi Maternal untuk Diagnosis Prenatal Noninvasif Penyakit Genetik
Abstract
Diagnosis prenatal adalah teknik diagnostik untuk menentukan kondisi fetus yang belum lahir apakah memiliki kelainan genetik ataupun kelainan lainnya. Teknik ini umumnya dilakukan pada penyakit genetik yang tidak dapat diobati di mana terminasi menjadi bahan pertimbangan. Teknik ini juga dilakukan pada kasus yang memerlukan penanganan segera pada saat prenatal dan pada kondisi yang dapat menimbulkan morbiditas atau mortalitas pada ibu. Diagnosis prenatal dapat dilakukan melalui metode invasif dan noninvasif. Metode invasif seperti amniocentesis dan biopsi villi korialis (CVS) memiliki resiko menimbulkan kecacatan bahkan kematian fetus. Pendekatan nonivasif melalui ultrasonografi belum cukup akurat untuk diagnosis penyakit genetik, sehingga masih memerlukan pengambilan sampel fetus untuk menegakkan diagnosis. Pendekatan terbaru pengambilan sampel fetus secara noninvasif dilakukan melalui pengambilan sel fetus, DNA dan mRNA fetus yang terdapat dalam sirkulasi darah maternal. Pada artikel ini dipaparkan mengenai perkembangan riset, kendala, serta potensi aplikasi klinis ketiga metode pengambilan sampel fetus tersebut.
Kata kunci: diagnosis prenatal nonivasif, penyakit genetik, cell-free fetal DNA/mRNA, sel fetus.
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[Potential Use of Fetal Genetic Material in Maternal Circulation for Prenatal Noninvasive Diagnosis of Genetic Disease].
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 treatable, in which the termination should be considered. This technique is also performed in cases that require immediate 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 amniocentesis 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.
Keywords: noninvasive prenatal diagnosis, genetic disease, cell-free fetal DNA/mRNA, fetal cell.
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