染色体疾病是导致新生儿出生缺陷最常见的遗传性疾病[1]。已知的染色体异常中95%以上是染色体数目异常。目前,孕妇产前常规进行胎儿非整倍体染色体疾病的筛查,对筛查的高危人群再常规进行侵入性产前诊断(invasive prenatal diagnosis,IPD)操作,进行相应的胎儿染色体核型分析以明确诊断,然而侵入性操作均会增加流产和妊娠并发症的风险。不同产前筛查方案的检出率不同,检测效率较 Chromosomal disease is the most common genetic disorder that causes birth defects in newborns [1]. More than 95% of known chromosomal abnormalities are chromosomal abnormalities. At present, pregnant women routinely carry out screening of fetal aneuploidy chromosomal diseases prenatal, routine invasive prenatal diagnosis (IPD) operation for high-risk screening of the population, the corresponding fetal karyotype analysis A definitive diagnosis, however, invasive procedures increase the risk of miscarriage and pregnancy complications. Different prenatal screening programs of different detection rates, detection efficiency