Clinical Analysis of Pregnant Women Serum for Second Trimester Prenatal Screening in Longquanyi District of Chengdu from 2010 to 2012_West China Medical Journal

Authors：

 FUTian-ming ^1,2 , YEDe-hua ³ , LIYong-wen ⁴ , ZHAOHui-xia ⁵ , ZHOUYin ⁶ , WUXiao-ge ⁷

1. Department of Gynaecology and Obstetrics, Longquanyi District Maternity & Infant Health Hospital of Chengdu, Chengdu, Sichuan 610100, P. R. China;
2. Chengdu Longquanyi District Prenatal Screening Center, Chengdu, Sichuan 610100, P. R. China;
3. Department of Gynaecology and Obstetrics, the First People's Hospital of Longquanyi District, Chengdu, Chengdu, Sichuan 610100, P. R. China;
4. Department of Gynaecology and Obstetrics, Honghe Branch of Sichuan Provincial People's Hospital, Chengdu, Sichuan 610100, P. R. China;
5. Department of Gynaecology and Obstetrics, Chengdu Aerospace Hospital, Chengdu, Sichuan 610100, P. R. China;
6. Department of Gynaecology and Obstetrics, Second People's Hospital of Longquanyi District, Chengdu, Sichuan 610100, P. R. China;
7. Department of Gynaecology and Obstetrics, Chengdu Changjiang Hospital, Chengdu, Sichuan 610100, P. R. China;

Corresponding author：

Keywords：

Prenatal screening; Prenatal diagnosis; Amniocentesis; Chromosome; Birth defects

DOI：

10.7507/1002-0179.20140329

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Objective To analyze the prenatal screening data of Longquanyi district, and evaluate the effect of prenatal screening technology in birth defects prevention. Methods A total of 10230 serum samples in Chengdu Longquanyi District Prenatal Screening Center from November 2010 to December 2012 were tested and analyzed, and the risk rates of Down's Syndrome, Trisomy 18 Syndrome and Open Neural Tube Defects (ONTDs) were obtained by Risk2T risk calculation software. The results of prenatal screening were verified and evaluated by high risk referral, pregnancy tracing and pregnancy outcome follow-up. Results In the 10 230 pregnant women, the positive rate of Down's Syndrome was 6.02%, Trisomy 18 Syndrome was 0.42% and Open Neural Tube Defects was 0.57%, and compliance rate of prenatal diagnosis was 51.56%. In the 57 high risk pregnant women of ONTDs, 53 women selected system color doppler ultrasound with a proportion of 92.98%, but in the 647 high risk pregnant women of Down's or Trisomy 18 Syndrome, only 47.30% of them chose amniocentesis for diagnosis. The χ² analysis showed that the difference was significant compared between system color doppler ultrasound and amniocentesis group (P<0.05). By diagnosis, 3 Down's Syndrome patients were found. Conclusion Second trimester maternal serum prenatal screening plays an important role in birth defects prevention in Longquanyi district. However, there is a great need to improve compliance rate of prenatal diagnosis of Down's and Trisomy 18 Syndrome.

Citation： FUTian-ming, YEDe-hua, LIYong-wen, ZHAOHui-xia, ZHOUYin, WUXiao-ge. Clinical Analysis of Pregnant Women Serum for Second Trimester Prenatal Screening in Longquanyi District of Chengdu from 2010 to 2012. West China Medical Journal, 2014, 29(6): 1078-1081. doi: 10.7507/1002-0179.20140329 Copy

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1. Jorde LB, Carey JC, Bamshad MJ Medical genetics[M]. 4th ed. New York: Mosby Elsevier, 2010: 105-217.
2. Nussbaum RL. Thompson & Thompson genetics in medicine[M]. 7th ed. Philadelphia: Saunders, 2007: 25-269.
3. Dimaio MS, Fox JE, Mahoney MJ. Prenatal diagnosis: cases and clinical challenges[M]. Oxford: Wiley-Blackwell, 2010: 10-113.
4. Evans MI. Prenatal diagnosis[M]. New York: McGraw-Hill Professional, 2006: 51-154.
5. 卫生部医疗服务标准专业委员会.胎儿常见染色体异常与开放性神经管缺陷的产前筛查与产前诊断技术标准第一部分:中孕期母血清学产前筛查[S]. 北京: 中国标准出版社, 2010: 1-9.
6. 中华人民共和国卫生部.中国出生缺陷防治报告(2012)[R]. 北京: 中华人民共和国卫生部, 2012: 1-16.
7. Wald NJ, Rodeck C, Hackshaw AK, et al. First and second trimester antenatal screening for Down's syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS)[J]. J Med Screen, 2003, 10(2): 56-104.
8. Wald NJ, Rodeck C, Hackshaw AK, et al. SURUSS in perspective[J]. BJOG, 2004, 111(6): 521-531.
9. Malone FD, Canick JA, Ball RH, et al. First-trimester or second trimester screening, or both, for Down' s syndrome[J]. N Engl J Med, 2005, 353(19): 2001-2011.
10. Wapner R, Thom E, Simpson JL, et al. First-trimester screening for trisomies 21 and 18[J]. N Engl J Med, 2003, 349(15): 1405-1413.
11. Cereda A, Carey JC. The trisomy 18 syndrome[J]. Orphanet J Rare Dis, 2012, 7(7): 81.
12. Souka AP, Pilalis A, Papastefanou IA, et al. Reproducibility study of crown-rump length and biparietal diameter measurements in the first trimester[J]. Prenat Diagn, 2012, 32(12): 1158-1165.
13. Miron JP, Cuckle H, Miron P. Prenasal thickness in first-trimester screening for Down syndrome[J]. Prenat Diagn, 2012, 32(7): 695-697.
14. Eixarch E, Hernandez-Andrade E, Crispi F, et al. Impact on fetal mortality and cardiovascular Doppler of selective ligature of uteroplacental vessels compared with undernutrition in a rabbit model of intrauterine growth restriction[J]. Placenta, 2011, 32(4): 304-309.
15. Cowans NJ, Spencer K. The relationship between maternal body mass, smoking status and ethnicity and first trimester nuchal translucency thickness[J]. Prenat Diagn, 2011, 31(5): 446-449.
16. Spencer K, Cowans NJ, Spencer CE, et al. A re-evaluation of the influence of maternal insulin-dependent diabetes on fetal nuchal translucency thickness and first-trimester maternal serum biochemical markers of aneuploidy. Prenat Diagn[J]. 2010, 30(10): 937-940.
17. Bethune M. Literature review and suggested protocol for managing ultrasound soft markers for Down syndrome: thickened nuchal fold, echogenic bowel, shortened femur, shortened humerus, pyelectasis and absent or hypoplastic nasal bone[J]. Australas Radiol, 2007, 51(3): 218-225.
18. Sahota DS, Chen M, Leung TY, et al. Assessment of sonographer nuchal translucency measurement performance-central tendency and dispersion[J]. J Matern Fetal Neonatal Med, 2011, 24(6): 812-816.
19. 卫生部医疗服务标准专业委员会.胎儿常见染色体异常与开放性神经管缺陷的产前筛查与产前诊断技术标准第二部分:胎儿染色体异常的细胞遗传学产前诊断技术标准[S]. 北京:中国标准出版社, 2010: 1-17.
20. Peters D, Chu TJ, Yatsenko SA, et al. Noninvasive prenatal diagnosis of a fetal microdeletion syndrome[J]. N Engl J Med, 2011, 365(19): 1847-1848.
21. Ye L, Chang JC, Lin C, et al. Induced pluripotent stem cells offer new approach to therapy in thalassemia and sickle cell anemia and option in prenatal diagnosis in genetic diseases[J]. Proc Natl Acad Sci USA, 2009, 106(24): 9826-9830.
22. Driscoll D, Gross S. Clinical practice.Prenatal screening for aneuploidy[J]. N Engl J Med, 2009, 360(24): 2556-2562.

West China Medical Journal

Clinical Analysis of Pregnant Women Serum for Second Trimester Prenatal Screening in Longquanyi District of Chengdu from 2010 to 2012

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