近年来,随着国家开放二胎政策的实施,优生优育与出生缺陷再度成为社会各界备受关注的热点议题。遗传因素在出生缺陷中占据约70%,并且遗传性疾病中染色体异常为主要致病原因~([1])。以医学现有水平对于染色体异常依然无法解释其病因并进行有效的干预和治疗,而减少出生缺陷的措施主要有赖于广泛开展产前筛查,诊断及适时终止妊娠。目前产前诊断方法分为有创性和无创性两大类。 In recent years, with the implementation of the policy of opening up a second child country, prenatal and postnatal care and birth defects have once again become the hot topics of great concern to all sectors of society. Genetic factors account for about 70% of birth defects, and chromosomal abnormalities in hereditary diseases are the leading cause of disease ([1]). To the current level of medical chromosomal abnormalities still can not explain the etiology and effective intervention and treatment, and to reduce birth defects mainly depends on the wide range of prenatal screening, diagnosis and timely termination of pregnancy. Prenatal diagnosis is divided into two categories of invasive and noninvasive.