Please wait a minute...
Journal of ZheJiang University(Medical Science)  2017, Vol. 46 Issue (3): 268-273    DOI: 10.3785/j.issn.1008-9292.2017.06.07
    
Maternal serum alpha fetoprotein and free β-hCG of second trimester for screening of fetal gastroschisis and omphalocele
CHEN Yiming1, ZHANG Wen1, LU sha1, MEI Jin1, WANG Hao1, WANG Shan2, GU Linyuan3, ZHANG Lidan1, CHU Xuelian3
1. Department of Prenatal Diagnosis(Screening) Centre, Hangzhou Women's Hospital(Hangzhou Maternity and Child Health Care Hospital), Hangzhou 310008, China;
2. Clinical Laboratory, Women's Hospital, Zhejiang University School of Medicine, Hangzhou 310006, China;
3. Clinical Laboratory, Yuhang District Maternity and Child Health Care Hospital, Hangzhou 311000, China
Download:   PDF(1731KB)
Export: BibTeX | EndNote (RIS)      

Abstract  

Objective:To assess the detection of maternal serum alpha fetoprotein (MSAFP) and free beta-HCG levels of second trimester for screening of fetal gastroschisis and omphalocele. Methods:Clinical data of 622 639 pregnant women from 5 prenatal screening centers in Hangzhou during October 2007 and September 2016 were analyzed retrospectively. Thirty cases of gastroschisis and 30 cases of omphalocele diagnosed by ultrasonography and postmortem findings were enrolled in the study and 116 cases of pregnant women with normal fetal development during the same period were selected as control group. The cut-off value and area under ROC curve (AUC) of MSAFP and free β-hCG for diagnosis of fetal gastroschisis and omphalocel were analyzed. Results:MSAFP levels of women with fetal gastroschisis and omphalocele were 4.41 (0.88-11.69) MOM and 2.31 (0.72-23.20) MOM, which were significantly higher than that of control group[0.98 (0.41-2.26) MOM, all P<0.01]. Free β-hCG level of women with fetal gastroschisis was 1.25 (0.35-19.94) MOM, which was significantly higher than that of control group[0.86 (0.17-6.11) MOM, P<0.05). But there were no significant difference in free β-hCG between fetal omphalocele group[1.03(0.21-8.95)]and control group (P>0.05). The AUCs of MSAFP for diagnosis of gastroschisis and omphalocele were 0.897 (95% CI:0.822-0.972) and 0.852(95% CI:0.762-0.942), respectively (all P<0.01). Taking 1.655 MOM as the cut-off value of MSAFP for abdominal wall defects (gastroschisis and omphalocele), the sensitivity was 68.30%, specificity was 99.60% and Youden index was 0.649. Conclusion:MSAFP of second trimester is a better biomarker than free β-hCG in screening abdominal wall defects.



Key wordsChorionicgonadotropin, beta subunit, human/blood      Alpha-fetoproteins/blood      Gastroschisis/etiology      Hernia, umbilical/etiology      Abdominal wall/abnormalities      Pregnant women      Pregnancy trimester, second      Prenatal diagnosis      Case-control studies     
Received: 07 March 2017      Published: 25 June 2017
CLC:  R394  
  R714.53  
  R446  
Cite this article:

CHEN Yiming, ZHANG Wen, LU sha, MEI Jin, WANG Hao, WANG Shan, GU Linyuan, ZHANG Lidan, CHU Xuelian. Maternal serum alpha fetoprotein and free β-hCG of second trimester for screening of fetal gastroschisis and omphalocele. Journal of ZheJiang University(Medical Science), 2017, 46(3): 268-273.

URL:

http://www.zjujournals.com/xueshu/med/10.3785/j.issn.1008-9292.2017.06.07     OR     http://www.zjujournals.com/xueshu/med/Y2017/V46/I3/268


中孕期母血清甲胎蛋白和游离β-hCG筛查胎儿腹裂和脐膨出的效率

目的:评估中孕期母血清甲胎蛋白(MSAFP)和游离人绒毛膜促性腺激素β亚基(β-hCG)在产前筛查胎儿腹裂和脐膨出中的价值。方法:回顾性分析2007年10月至2016年9月在杭州市五家产前筛查中心自愿接受产前筛查的622 639名孕妇的出生缺陷监测资料及产前筛查随访结果。根据有无胎儿先天性腹壁缺损(腹裂、脐膨出)将研究对象分为病例组和健康对照组。病例组是指经超声诊断并通过终止妊娠确诊为腹裂和脐膨出胎儿的孕妇共60例,包括腹裂组30例、脐膨出组30例;健康对照组为随机抽取同时期胎儿发育正常的孕妇116名。采用时间分辨荧光免疫法检测两病例和健康对照组MSAFP、游离β-hCG水平。用受试者工作特征(ROC)曲线对MSAFP和游离β-hCG的筛查效能进行评价。结果:腹裂组孕妇MSAFP水平为4.41(0.88~11.69)MOM,脐膨出组为2.31(0.72~23.20)MOM,均高于健康对照组的0.98(0.41~2.26)MOM,差异均有统计学意义(均P<0.01)。腹裂组血清游离β-hCG水平为1.25(0.35~19.94)MOM,高于健康对照组的0.86(0.17~6.11)MOM,差异有统计学意义(P<0.05);脐膨出组游离β-hCG水平为1.03(0.21~8.95)MOM,与健康对照组比较差异无统计学意义(P>0.05)。MSAFP筛查腹裂和脐膨出胎儿的AUC分别为0.897(95%CI:0.822~0.972)和0.852(95%CI:0.762~0.942)(均P<0.01)。MSAFP筛查先天腹壁缺损(腹裂、脐膨出)的最佳临界值为1.655 MOM,此时的敏感度为68.30%,特异度为99.60%,约登指数为0.649。结论:中孕期MSAFP筛查先天腹壁缺损具有较高的敏感度和特异度,是筛查先天腹壁缺损的一个较好的标志物。


关键词: 绒毛膜促性腺激素,  &beta,  亚单位,  人/血液,  甲胎蛋白类/血液,  腹裂/病因学,  疝,  脐/病因学,  腹壁/畸形,  孕妇,  妊娠中期,  产前诊断,  病例对照研究 

[1] IONESCU S, MOCANU M, ANDREI B, et al. Differential diagnosis of abdominal wall defects-omphalocele versus gastroschisis[J]. Chirurgia(Bucur),2014,109(1):7-14.
[2] CALZOLARI E, BIANCHI F, DOLK H, et al. Omphalocele and gastroschisis in Europe:a survey of 3 million births 1980-1990. EUROCAT Working Group[J]. Am J Med Genet,1995,58(2):187-194.
[3] 孟然,王燕.胎儿脐膨出和腹裂的发生情况及胎儿结局比较[J].中国优生与遗传杂志,2010,18(7):104-105. MENG Ran, WANG Yan. Comparison of incidence and fetus outcome between fetus exompholos and gastroschisis[J]. Chinese Journal of Birth Health & Heredity,2010,18(7):104-105. (in Chinese)
[4] BOYD P A, TONKS A M, RANKIN J, et al. Monitoring the prenatal detection of structural fetal congenital anomalies in England and Wales:register-based study[J]. J Med Screen,2011,18(1):2-7.
[5] 陈明,杨志荣,赵欣,等.产前超声对胎儿脐膨出和腹裂的鉴别诊断及胎儿结局的比较[J].中国产前诊断杂志(电子版),2012,4(2):4-7. CHEN Ming, YANG Zhirong, ZHAO Xin, et al. Differential diagnosis and comparison of outcome between fetus omphalocele and fetus gastroschisis by prenatal ultrasonograpgy[J]. Chinese Journal of Prenatal Diagnosis(Electronic Version),2012,4(2):4-7. (in Chinese)
[6] CHRISTISON-LAGAY E R, KELLEHER C M, LANGER J C. Neonatal abdominal wall defects[J]. Semin Fetal Neonatal Med,2011,16(3):164-172.
[7] PREFUMO F, IZZI C. Fetal abdominal wall defects[J]. Best Pract Res Clin Obstet Gynaecol,2014,28(3):391-402.
[8] PALOMAKI G E, HILL L E, KNIGHT G J, et al. Second-trimester maternal serum alpha-fetoprotein levels in pregnancies associated with gastroschisis and omphalocele[J]. Obstet Gynecol,1988,71(6):906-909.
[9] SALLER D N JR, CANICK J A, PALOMAKI G E, et al. Second-trimester maternal serum alpha-fetoprotein, unconjugated estriol, and hCG levels in pregnancies with ventral wall defects[J]. Obstet Gynecol,1994,84(5):852-855.
[10] BARNES I, AMIEL A, FEJGIN M D. Elevated maternal serum human chorionic gonadotropin in two cases of fetal ventral wall defects[J]. Prenat Diagn,1992,12(1):76-77.
[11] 中国出生缺陷监测系统疑难和微小畸形报告指南(2012版)[R].全国妇幼卫生监测及年报通讯.北京:卫生部妇幼保健与社区卫生司,2013,50(1):1-7. Guidelines for the reporting of difficult and minor malformations in birth defects monitoring systems in China(2012)[R]. Chinese Maternal and child health monitoring and newsletter. Beijing:Department of Maternal and Child Health and Community Health,2013,50(1):1-7. (in Chinese)
[12] 陈坤,陈忠.医学科研方法[M].北京:科学出版社,2011:43-44. CHEN Kun, CHEN Zhong. Medical research methods[M]. Beijing:Science Press,2011:43-44. (in Chinese)
[13] KUNZ J, SCHMID J. Letter:amniotic alpha-fetoprotein and omphalocele[J]. Lancet,1976,1(7949):47.
[14] HAUGE M, BUGGE M, NIELSEN J. Early prenatal diagnosis of omphalocele constitutes indication for amniocentesis[J]. Lancet,1983,2(8348):507.
[15] NADEL A S, GREEN J K, HOLMES L B, et al. Absence of need for amniocentesis in patients with elevated levels of maternal serum alpha-fetoprotein and normal ultrasonographic examinations[J]. N Engl J Med,1990,323(9):557-561.

[1] WEN Hong, CHEN Lu, YAN Kai, HE Jing. Prenatal diagnosis of Joubert syndrome:one case report and literature review[J]. Journal of ZheJiang University(Medical Science), 2017, 46(3): 274-278.
[2] HONG Fang, HUANG Xinwen, ZHANG Yu, YANG Jianbin, TONG Fan, MAO Huaqing, HUANG Xiaolei, ZHOU Xuelian, YANG Rulai, ZHAO Zhengyan. Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up[J]. Journal of ZheJiang University(Medical Science), 2017, 46(3): 240-247.
[3] ZHU Hui, MIAO Zhengyou, QIAN Yeqing, LI Hongge, JIN Jinglei, HE Jing, DONG Minyue. Detection of cell-free fetal DNA in maternal plasma for noninvasive prenatal screening of fetal chromosomal aneuploidies in women of advanced maternal age[J]. Journal of ZheJiang University(Medical Science), 2017, 46(3): 256-261.
[4] HU Xiaorui, MO Fengyi, MA Qing, CUI Long, LYU Pingping, YE Yinghui. Correlation of fetuin-B concentrations in serum and follicular fluid with outcomes of in vitro fertilization[J]. Journal of ZheJiang University(Medical Science), 2017, 46(3): 285-289.
[5] YAN Kai, JIN Fan. Advances on prenatal diagnosis of birth defects associated with genetic disorders[J]. Journal of ZheJiang University(Medical Science), 2017, 46(3): 227-232.
[6] CHEN Gang,ZHANG Ding,YING Yacao,WANG Zhifeng,TAO Wei,ZHU Hao,ZHANG Jingfeng,PENG Zhiyi. Clinical investigation on transarterial chemoembolization with indigenous drug-eluting beads in treatment of unresectable hepatocellular carcinoma[J]. Journal of ZheJiang University(Medical Science), 2017, 46(1): 44-51.
[7] FANG Minbo, CHEN Qixing, WU Shuijing, FANG Xiangming. Association of single nucleotide polymorphism in exon of transient receptor potential melastatin 2 gene with sepsis[J]. Journal of ZheJiang University(Medical Science), 2016, 45(4): 410-415.
[8] TIAN Ji-shun, PAN Fei-xia, HE Sai-nan, HU Wen-sheng. Risk factors of pregnancy termination at second and third trimester in women with scarred uterus and placenta previa[J]. Journal of ZheJiang University(Medical Science), 2015, 44(3): 247-252.
[9] SHEN Qin-qin, ZHANG Tan. Research advances on prenatal maternal serum markers for screening adverse pregnancy outcomes[J]. Journal of ZheJiang University(Medical Science), 2015, 44(3): 339-343.
[10] WENG Xiu-Mei, PAN Jian-Ping. Bone alkaline phosphatase and N-MID osteocalcin in monitoring of osteoporosis treatment with recombinant human parathyroid hormone 1-34[J]. Journal of ZheJiang University(Medical Science), 2013, 42(5): 578-582.
[11] WU Tongfei,LI Xiyuan,WANG Qiao,LIU Yupeng,DING Yuan,SONG Jinqing,ZHANG Yao,YANG . HEXB gene study and prenatal diagnosis for a family affected by infantile Sandhoff diseas[J]. Journal of ZheJiang University(Medical Science), 2013, 42(4): 403-.
[12] . A case-control study on risk factors of female breast cancer in Zhejiang province[J]. Journal of ZheJiang University(Medical Science), 2012, 41(5): 512-518.