CAJ | 학술논문

单基因病是导致新生儿出生缺陷的主要原因之一，大多数单基因病患者预后不佳。对于有单基因病患儿出生史的家系，在先证者致病基因及突变类型明确的基础上，可通过产前诊断防止患儿的出生。目前，单基因病的产前诊断可分为植入前遗传学诊断（PGD）和妊娠期产前诊断。传统的产前诊断通过有创手术获取胎儿源性标本，准确性高，但具有一定程度的流产风险。PGD和无创产前诊断（NIPD）作为新的产前诊断方式，在一定程度上可作为传统方式的补充。综述单基因病产前诊断技术的研究进展及遗传咨询的重要意义，为临床实践产前诊断的方案制定提供一定的思路。
단기인병시도치신생인출생결함적주요원인지일，대다수단기인병환자예후불가。대우유단기인병환인출생사적가계，재선증자치병기인급돌변류형명학적기출상，가통과산전진단방지환인적출생。목전，단기인병적산전진단가분위식입전유전학진단（PGD）화임신기산전진단。전통적산전진단통과유창수술획취태인원성표본，준학성고，단구유일정정도적유산풍험。PGD화무창산전진단（NIPD）작위신적산전진단방식，재일정정도상가작위전통방식적보충。종술단기인병산전진단기술적연구진전급유전자순적중요의의，위림상실천산전진단적방안제정제공일정적사로。
Single-gene defects, which has the unfavorable prognosis, is the main cause of the newborn's defect. Couples can prevent birth of child carrying the same genetic disorder with the proband. Currently, the prenatal diagnosis contains preimplantation genetic diagnosis and trimester prenatal diagnosis. Traditional invasive prenatal diagnosis acquire specimens from fetal relying on surgery. It is accurate, but with a certain risk of miscarriage. The new method of prenatal diagnosis (such as preimplantation genetic diagnosis and non-invasive prenatal diagnosis) and the traditional way are complementary to one another. In this review, we discuss the progress of prenatal diagnosis of Single-gene defects and the significance of genetic counseling in order to provide some ideas in clinical practice.