产前诊断是在胎儿出生前检测胎儿或胚胎是否患有出生缺陷疾病。常见的出生缺陷疾病包括染色体疾病、单基因疾病和多基因疾病等。出生缺陷已成为婴幼儿残疾和死亡的主要原因。全世界每年大约有500万出生缺陷婴儿出生[1],其中85%发生在发展中国家。这不但增加了家庭和社会的经济和精神负担,而且使人口素质降低。中国每年有(80～120)×104出生缺陷儿出生,占全部出生人口的4%～6%。产前诊断可有效检测出生缺陷相关疾病,及早终止重度出生缺陷胎儿的出 Prenatal diagnosis is the detection of fetal or embryo birth defects before the birth of the fetus. Common birth defects diseases include chromosomal diseases, monogenic diseases and polygenic diseases. Birth defects have become the leading cause of infant and child disability and death. Approximately 5 million birth-defect infants are born in the world each year [1], 85% of which occur in developing countries. This not only increases the economic and psychological burden on families and society, but also reduces the quality of the population. Every year, 80 to 120 × 104 birth defects occur in China, accounting for 4% to 6% of the total population of births. Prenatal diagnosis can effectively detect birth defects related to early termination of severe birth defects fetus