韩国母胎医学会提出了第一个韩国产前非整倍体筛查和诊断检测指南,2019年4月。临床实践指南(CPG)是为韩国女性制定的,使用基于优质实践指南的适应过程,以前在其他国家开发的,胎儿染色体异常的产前筛查和侵入性诊断测试。我们回顾了当前的指南,并根据适应过程开发了针对胎儿染色体异常的侵入性诊断测试的韩国CPG。选定的11个关键问题的建议是:1)考虑到胎儿遗传性疾病的侵入性产前诊断测试中胎儿丢失的风险增加,不建议所有35岁以上的孕妇使用。2)因为在怀孕14周之前进行的早期羊膜穿刺术增加了胎儿丢失和畸形的风险,绒毛膜绒毛取样(CVS)建议孕妇在妊娠早期接受胎儿遗传性疾病的侵入性产前诊断检测.然而,怀孕9周前的CVS也会增加胎儿丢失和畸形的风险。因此,建议在怀孕9周后使用CVS。3)建议羊膜穿刺术以区分真实的胎儿镶嵌和局限的胎盘镶嵌。4)抗免疫球蛋白应在侵入性诊断测试后72小时内施用。5)由于垂直传播的风险很高,根据临床医生的判断,考虑孕妇的病情,建议进行侵入性产前诊断测试。6)不建议在侵入性诊断测试之前或之后使用抗生素。7)染色体微阵列测试作为常规细胞遗传学测试的替代方法,不建议所有接受侵入性诊断测试的孕妇。8)不建议在妊娠14周之前进行羊膜穿刺术,因为它会增加胎儿丢失和畸形的风险。9)不建议在妊娠9周之前使用CVS,因为它会增加胎儿丢失和畸形的风险。10)尽管与侵入性产前诊断测试(羊膜穿刺术和CVS)相关的胎儿丢失风险可能因操作者的熟练程度而异,在双胎妊娠中,侵入性产前诊断检测导致胎儿丢失的风险高于单胎妊娠.11)当单绒毛膜双胞胎在妊娠早期被识别并且两个胎儿的生长和结构一致时,可以单独对一个胎儿进行侵入性产前诊断测试。然而,在通过体外受精怀孕的情况下,建议对每个胎儿进行侵入性产前诊断测试,或者在两个胎儿的生长不同的情况下,或至少有一个胎儿有结构异常的人。该指南由韩国医学科学院制定和批准。本指南每5年修订一次。
The Korean Society of Maternal Fetal Medicine proposed the first Korean
guideline on prenatal aneuploidy screening and diagnostic testing, in April 2019. The clinical practice
guideline (CPG) was developed for Korean women using an adaptation process based on good-quality practice
guidelines, previously developed in other countries, on prenatal screening and invasive diagnostic testing for fetal chromosome abnormalities. We reviewed current guidelines and developed a Korean CPG on invasive diagnostic testing for fetal chromosome abnormalities according to the adaptation process. Recommendations for selected 11 key questions are: 1) Considering the increased risk of fetal loss in invasive prenatal diagnostic testing for fetal genetic disorders, it is not recommended for all pregnant women aged over 35 years. 2) Because early amniocentesis performed before 14 weeks of pregnancy increases the risk of fetal loss and malformation, chorionic villus sampling (CVS) is recommended for pregnant women who will undergo invasive prenatal diagnostic testing for fetal genetic disorders in the first trimester of pregnancy. However, CVS before 9 weeks of pregnancy also increases the risk of fetal loss and deformity. Thus, CVS is recommended after 9 weeks of pregnancy. 3) Amniocentesis is recommended to distinguish true fetal mosaicism from confined placental mosaicism. 4) Anti-immunoglobulin should be administered within 72 hours after the invasive diagnostic testing. 5) Since there is a high risk of vertical transmission, an invasive prenatal diagnostic testing is recommended according to the clinician\'s discretion with consideration of the condition of the pregnant woman. 6) The use of antibiotics is not recommended before or after an invasive diagnostic testing. 7) The chromosomal microarray test as an alternative to the conventional cytogenetic test is not recommended for all pregnant women who will undergo an invasive diagnostic testing. 8) Amniocentesis before 14 weeks of gestation is not recommended because it increases the risk of fetal loss and malformation. 9) CVS before 9 weeks of gestation is not recommended because it increases the risk of fetal loss and malformation. 10) Although the risk of fetal loss associated with invasive prenatal diagnostic testing (amniocentesis and CVS) may vary based on the proficiency of the operator, the risk of fetal loss due to invasive prenatal diagnostic testing is higher in twin pregnancies than in singleton pregnancies. 11) When a monochorionic twin is identified in early pregnancy and the growth and structure of both fetuses are consistent, an invasive prenatal diagnostic testing can be performed on one fetus alone. However, an invasive prenatal diagnostic testing is recommended for each fetus in cases of pregnancy conceived via in vitro fertilization, or in cases in which the growth of both fetuses differs, or in those in which at least one fetus has a structural abnormality. The
guidelines were established and approved by the Korean Academy of Medical Sciences. This
guideline is revised and presented every 5 years.