Glick P L, Pohlson E C, Resta R, Payne C, Mosbarger H, Luthy D A, Hickok D E, Schaller R T
Department of Surgery, Children's Hospital Medical Center, Seattle, WA 98105.
J Pediatr Surg. 1988 Jan;23(1 Pt 2):16-20. doi: 10.1016/s0022-3468(88)80531-1.
Maternal serum alpha-fetoprotein (MS-AFP) screening has become part of routine obstetric care. Although elevated MS-AFP was originally associated with neural tube defects (NTD), it is also able to detect several fetal anomalies of interest to a pediatric surgeon, ie, ventral abdominal wall defects, intestinal atresias, and sacrococcygeal teratomas. Previously, decreased MS-AFP had only been associated with fetal trisomies, but not surgically correctable lesions. In the present study, we review our recent experience with both elevated and decreased MS-AFP as a marker to detect fetal anomalies of concern to the pediatric surgeon. Forty-one fetal anomalies were associated with 333 pregnancies referred for follow-up after abnormal MS-AFP screening results from November 1985 through November 1986. One hundred ninety-six were elevated and 139 were decreased. In most cases, evaluation included counseling, repeat MS-AFP, level II ultrasound, and amniocentesis. This revealed elevated MS-AFP to be associated with 32 (16.3%) anomalies (2 NTD, 5 anencephalics, 5 ventral abdominal wall defects, 1 stage IV-S neuroblastoma, 1 renal anomaly, 1 ventriculomegaly, 15 fetal demises, and 2 fetal-maternal bleeds). Decrease in MS-AFP was associated with nine (6.4%) anomalies (2 congenital diaphragmatic hernias, 3 Down's syndrome, 1 Turner's syndrome, 2 duodenal atresias, and 1 choroid plexus cyst). In this study, MS-AFP detected several fetal anomalies known to be associated with abnormal MS-AFP and three anomalies not previously described (congenital diaphragmatic hernia, neuroblastoma, and choroid plexus cyst). Elevated as well as decreased MS-AFP are significant and should be pursued by a full prenatal evaluation.(ABSTRACT TRUNCATED AT 250 WORDS)
母血清甲胎蛋白（MS-AFP）筛查已成为常规产科护理的一部分。尽管MS-AFP升高最初与神经管缺陷（NTD）相关，但它也能够检测出小儿外科医生感兴趣的几种胎儿异常情况，即腹前壁缺损、肠道闭锁和骶尾部畸胎瘤。以前，MS-AFP降低仅与胎儿三体综合征相关，而与手术可矫正的病变无关。在本研究中，我们回顾了我们最近关于MS-AFP升高和降低作为检测小儿外科医生关注的胎儿异常标志物的经验。1985年11月至1986年11月期间，333例因MS-AFP筛查结果异常而转诊进行随访的妊娠与41例胎儿异常相关。其中196例MS-AFP升高，139例降低。在大多数情况下，评估包括咨询、重复MS-AFP检测、二级超声检查和羊膜穿刺术。结果显示，MS-AFP升高与32例（16.3%）异常相关（2例NTD、5例无脑儿、5例腹前壁缺损、1例IV-S期神经母细胞瘤、1例肾脏异常、1例脑室扩大、15例胎儿死亡和2例胎儿-母体出血）。MS-AFP降低与9例（6.4%）异常相关（2例先天性膈疝、3例唐氏综合征、1例特纳综合征、2例十二指肠闭锁和1例脉络丛囊肿）。在本研究中，MS-AFP检测出几种已知与MS-AFP异常相关的胎儿异常以及三种以前未描述的异常（先天性膈疝、神经母细胞瘤和脉络丛囊肿）。MS-AFP升高和降低均具有重要意义，应进行全面的产前评估。（摘要截短于250字）
