产前诊断和宫内治疗的技术进展与展望

Progress and prospect of prenatal diagnosis and intrauterine therapy

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生。

Prenatal diagnosis is to test for birth diseases or conditions in an unborn child, such as chromosome abnormalities, single gene disorders and multigenic diseases. Through a variety of techniques, we can check the diseases or conditions of fetus before it is born. At present some new techniques provide chance for prenatal diagnosis, for example, fetal free DNA, comparative genomic hybridization （CGH） , sequencing and imaging, meanwhile some difficuhies give us challenge. A growing spectrum and complex genetic mechanism of tetal disease become challenges for prenatal diagnosis and fetal therapy. Further improvements in molecular techniques, etoscopic equipment, intrauterine surgical technique, and gene therapy would promote the development of prenatal diagnosis anti fetal medical science.