Milunsky A, Alpert E
JAMA. 1984 Sep 21;252(11):1438-42.
Maternal serum alpha-fetoprotein (MSAFP) screening was offered in a private suburban practice to 21,000 nondiabetic and 442 diabetic women with apparently normal pregnancies. Using 2.5 or greater multiples of the median as the normal upper limit, 249 (1.2%) had a raised MSAFP level. There were 25 neural tube defects (NTDs) (1.2/1,000 births); 18 were detected by screening and two by ultrasound scanning. Three had closed spina bifida lesions. Two had anencephaly with normal MSAFP levels, but were studied at more than 24 weeks' gestation. An additional 13 with raised MSAFP levels had other congenital defects. One in 400 women screened had a recommended amniocentesis; 26.4% of them had a fetus with an NTD or major malformation. Our detection efficiency before 24 weeks' gestation for anencephaly was 85.7% (12/14), 62.5% (5/8) for open and closed spina bifida, and 1/1 for encephalocele. A raised MSAFP level occurred in ten (2.3%) of the 442 diabetic women, four (0.9%) of whom had a fetus with an open NTS. A screening program should be established only where there is linked excellent interdisciplinary support among obstetrician, laboratory, clinical geneticist, ultrasonographer, and an identified program coordinator.
在一个郊区私人诊所，对21000名非糖尿病孕妇和442名妊娠情况看似正常的糖尿病孕妇进行了母血清甲胎蛋白（MSAFP）筛查。以中位数的2.5倍或更高倍数作为正常上限，有249人（1.2%）的MSAFP水平升高。共有25例神经管缺陷（NTD）（1.2/1000例分娩）；18例通过筛查发现，2例通过超声扫描发现。3例有隐性脊柱裂病变。2例无脑儿的MSAFP水平正常，但在妊娠24周后接受检查。另外13名MSAFP水平升高的孕妇有其他先天性缺陷。每400名接受筛查的妇女中有1人被建议进行羊膜穿刺术；其中26.4%的胎儿患有NTD或严重畸形。我们在妊娠24周前对无脑儿的检测效率为85.7%（12/14），对开放性和隐性脊柱裂的检测效率为62.5%（5/8），对脑膨出的检测效率为1/1。442名糖尿病孕妇中有10人（2.3%）的MSAFP水平升高，其中4人（0.9%）的胎儿患有开放性NTS。只有在产科医生、实验室、临床遗传学家、超声检查人员和确定的项目协调员之间有出色的跨学科支持相联系的地方，才应建立筛查项目。
