胎儿常见染色体病产前筛查的研究进展

侯旭宁　王桂香　刘爱菊　张俊绘

1.内蒙古医科大学，内蒙古呼和浩特010110；2.内蒙古自治区妇幼保健院产科，内蒙古呼和浩特010059

胎儿常见染色体病产前筛查的研究进展

侯旭宁1王桂香2▲刘爱菊2▲张俊绘2

1.内蒙古医科大学，内蒙古呼和浩特010110；2.内蒙古自治区妇幼保健院产科，内蒙古呼和浩特010059

染色体病是影响出生人口素质的重要因素，也是围生儿死亡的主要原因之一，是目前我们所关注及需要解决的一个重大公共卫生问题。常见的染色体疾病包括唐氏综合征、爱德华综合征、帕陶综合征，这些染色体疾病占全部染色体病的80%～90%，临床中尤以唐氏综合征最为常见。而产前筛查是对胎儿染色体疾病干预的有效手段，是出生缺陷干预二级预防中的重要手段，为了最大限度地减少染色体病患儿的出生，提高出生人口素质，产前筛查在不断地完善与发展，极大地提高了胎儿染色体疾病的检出率，产前筛查包括血清学筛查、超声筛查、无创DNA产前检测。

染色体病；产前筛查；血清学筛查；超声筛查；无创DNA产前检测

［Abstract］Chromosome disease is an important factor that affects the birth population quality and also is one of the leading causes of perinatal deaths，which is major public health problem for us to pay close attention to and solve. Common chromosomal disorders which accounts for eighty percent to ninety percent of the total chromosomal disorders include Down syndrome，Edward syndrome，Patau syndrome，among which，Down syndrome is the most common in clinic.Prenatal screening is an effective method for intervention of fetal chromosomal disease，which is also an important technique in the secondary prevention of birth defects intervention.In order to minimize the children who has the chromosome disease was born and improve the birth population quality，prenatal screening is constantly improving and developing，and greatly improve the detection rate of fetal chromosomal disease.Prenatal screening includes serological screening，ultrasound screening，non-invasive prenatal detection of DNA.

［Key words］Chromosome disease；Prenatal screening；Serological screening；Ultrasound screening；Noninvasive prenatal detection of DNA

染色体疾病是染色体数目和结构异常所引起的疾病，据估计染色体异常占新生儿的1/200～1/150［1］，而染色体数目异常是临床上最常见的染色体病，其中以唐氏综合征、爱德华综合征、帕陶综合征常见，占染色体非整倍体畸变的95%以上，这些染色体疾病占全部染色体病的80%～90%［2］，而尤以唐氏综合征最为常见。染色体结构异常临床上较少见，主要包括染色体部分缺失、重复、易位、重排、插入等。……