모체 혈액 내 세포 유리 태아 핵산을 이용한 비침습적 산전 진단 = Noninvasive Prenatal Diagnosis Using Cell-free Fetal Nucleic Acids in the Maternal Circulation

다국어 초록 (Multilingual Abstract)

Cell-free fetal nucleic acids in the maternal circulation can be broadly divided into fetal DNA and RNA that originate from apoptotic placenta cells. Cell-free fetal nucleic acids can be detected from 4-5 weeks gestation and are undetectable in the maternal circulation after delivery. Therefore, cell-free fetal nucleic acids have been proposed as a potential material for non-invasive prenatal diagnosis (NIPD), which poses no risk to mother and child. The clinical applications of this technology fall into three categories: first, early sex determination in cases at high risk of X-linked disorders or congenital adrenal hyperplasia requiring follow-up testing or antenatal treatment; second, detection of specific paternally inherited monogenic diseases in families with high genetic risk; and third, routine antenatal care offered to all pregnant women, including prenatal screening/ diagnosis of aneuploidy, particularly Down syndrome. Fetal sex determination is already performed in routine clinical care for high-risk individuals in some countries. Many researchers have explored the possibility of cellfree fetal nucleic acids on NIPD of monogenic diseases and aneuploidy. Promising results have been reported from studies using the combination of markers and the application of various experimental methods. Although these technologies can raise ethical, social, and legal concerns, a reliable noninvasive test using cell-free fetal nucleic acids may in future form a part of national antenatal programs for detection of Down syndrome and other common genetic disorders.