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中华妇幼临床医学杂志(电子版)

Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition) ›› 2018, Vol. 14 ›› Issue (06): 718 -723. doi: 10.3877/cma.j.issn.1673-5250.2018.06.015

Special Issue: ；

Original Article

Prenatal diagnosis results of advanced maternal age women and limitations of preferred non-invasive prenatal screening to them: a large sample analysis

Hang Su1, Zhiying Liu1, Yi Lai1, Li Qin1, Hongqian Liu1, Xuemei Zhang1, Qian Zhu1, Ting Hu1, Xun Zhang1, Xiaowen Zhao1, Shanling Liu1, He Wang1,†()   

  1. 1. Department of Prenatal Diagnosis of Obstetrics and Gynecology, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
  • Received:2018-04-28 Revised:2018-09-22 Published:2018-12-01
  • Corresponding author: He Wang
  • About author:
    Corresponding author: Wang He, Email:
  • Supported by:
    National Science and Technology Infrastructure Program(2014BAI06B03)
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Objective

Based on the analysis of the cytogenetic prenatal diagnosis results, the values of non-invasive prenatal screening (NIPS) were analyzed in the detection of the advanced maternal age women (≥35 years old) and limitations of preferred to NIPS according to the fetal chromosomal abnormalities.

Methods

From January 2009 to December 2013, a total of 20 751 advanced maternal age women who received prenatal diagnosis in West China Second University Hospital, Sichuan University were selected as research subjects. The results of the fetal cytogenetic prenatal diagnosis by amniocentesis of those 20 751 advanced maternal age women were analyzed retrospectively. The chromosome abnormalities of the fetus were classified and the proportions of all kinds of chromosome abnormalities were calculated. This research was in line with the requirements of World Medical Association Declaration of Helsinki revised in 2013.

Results

① A total of 380 chromosome abnormalities were detected among those 20 751 advanced maternal age women according to the results of the cytogenetic prenatal diagnosis. The total detection rate of chromosome abnormalities in advanced maternal age women was 1.83% (380/20 751), including 173 cases of trisomy 21 (45.53%, 173/380), 51 cases of trisomy 18 (13.42%, 51/380), 9 cases of trisomy 13 (2.37%, 9/380), 78 cases of sex chromosome abnormalities (20.53%, 78/380), 49 carriers of chromosomal abnormality (12.89%, 49/380), 20 cases of other chromosome abnormalities (5.26%, 20/380). If NIPS was used as the preferred prenatal diagnosis method, then the aimed diseases of NIPT detecting were trisomy 21, trisomy 18 and trisomy 13, so the chromosome abnormalities which could be detected out would probably account for 70.39% (233/331) of all chromosomal abnormalities with clinical phenotypes. ②From 2009 to 2013, the detection rates of fetal chromosomal abnormalities were 1.49% (38/2 543), 1.44% (51/3 548), 1.87% (87/4 651), 1.85% (99/5 345), and 2.25% (105/4 664), respectively, and the detection rate of fetal chromosomal abnormalities was increasing year by year.

Conclusion

NIPS as the preferred detection method for screening of fetal chromosomal abnormalities in advanced maternal age women should be cautiously used.

Key words: Chromosome aberrations, Maternal age, Prenatal diagnosis, Chromosome, Non-invasive prenatal screening, Fetus
表1 380例胎儿染色体异常分类、检出率及其构成比分析结果[%(n/n′)]
胎儿染色体异常分类 例数 胎儿染色体异常检出率 胎儿染色体异常构成比
21-三体综合征 173 0.83(173/20 751) 45.53(173/380)
18-三体综合征 51 0.25(51/20 751) 13.42(51/380)
13-三体综合征 9 0.04(9/20 751) 2.37(9/380)
性染色体异常 78 0.38(78/20 751) 20.53(78/380)
染色体异携带者 49 0.23(49/20 751) 12.89(49/380)
其他染色体异常 20 0.10(20/20 751) 5.26(20/380)
合计 380 1.83(380/20 751) 100.00(380/380)
表2 380例染色体异常胎儿的染色体核型及其构成比[例数(%)]
染色体核型 构成比 染色体核型 构成比
21-三体综合征 173(45.53) ? 46，X，inv(X) 1(0.26)
? 47，XX(XY)，＋21 173(45.53) ? 46，XX，t(1；16)(q10；p10)mat 1(0.26)
18-三体综合征 51(13.42) ? 46，XX，t(1；9)(p35；p11)pat 1(0.26)
? 47，XX(XY)，＋18 51(13.42) ? 46，XX，t(11；22)(q24；q13) 1(0.26)
13-三体综合征 9(2.37) ? 46，xx，t(12；18)(q21；q12) 1(0.26)
? 47，XX(XY)，＋13 9(2.37) ? 46，XX，t(2；12)(q11；q11)mat 1(0.26)
性染色体异常 78(20.53) ? 46，XX，t(2；15)(q22；q24)，9qh＋ 1(0.26)
? 45，X 6(1.58) ? 46，XX，t(4；5)(q28；q23) 1(0.26)
? 45，X，[9]/47，XXX[5]/46，XX[6] 1(0.26) ? 46，XX，t(4；8)(q21；p11) 1(0.26)
? 45，X，inv9 1(0.26) ? 46，XX，t(5；15)(q23；q25) 1(0.26)
? 45，X[4]/46，XX[97] 1(0.26) ? 46，XX，t(6；19)(p11；q11)mat 1(0.26)
? 45，X[1]/46，XXY[1]/46，XY[34] 1(0.26) ? 46，XX，t(8；10)(q23；p25)pat 1(0.26)
? 45，X[3]/46，X，i(X)(q10)[21] 1(0.26) ? 46，XX，t(8；22)(q24.2；q12)mat 1(0.26)
? 45，X[3]/46，XX[17] 1(0.26) ? 46，XX，t(9；10)(q21；p12) 1(0.26)
? 45，X[3]/46，XY[27] 1(0.26) ? 46，XX，t(9；14)(q32；q31)mat 1(0.26)
? 45，X[4]/46，XX[32] 1(0.26) ? 46，XY，der(10)(q？) 1(0.26)
? 45，X[4]/46，XY[28] 1(0.26) ? 46，XY，t(1；2)(p31；q21) 1(0.26)
? 45，X[5]/46，XX[30] 1(0.26) ? 46，XY，t(1；4)(q31；p12) 1(0.26)
? 45，X[7]/46，X，i(X)(q10)[13] 1(0.26) ? 46，XY，t(10；13)(q11；q33) 1(0.26)
? 45，X[7]/46，XX[27] 1(0.26) ? 46，XY，t(12；16)(p12；p12)pat 1(0.26)
? 45，X[7]/46，XY[31] 1(0.26) ? 46，XY，t(19；20)(p13；q22)pat 1(0.26)
? 45，X[9]/46，XX[11] 1(0.26) ? 46，XY，t(2；11)[5]/46，XY[27] 1(0.26)
? 46，X，del(X)(p21→ter) 1(0.26) ? 46，XY，t(2；15)(p14；q24) mat 1(0.26)
? 46，X，i(X) 1(0.26) ? 46，XY，t(2；18)(q34；p11) 1(0.26)
? 46，X，i(Xq) 1(0.26) ? 46，XY，t(4：18)(q21；q23)mat 1(0.26)
? 46，XX[5]/46，XY，[25] 1(0.26) ? 46，XY，t(5；7)(q22；p22) 1(0.26)
? 46，XY[27]/46，XX[14] 1(0.26) ? 46，XY，t(6；13)(q14；q33) 1(0.26)
? 47，XXX[5]/46，XX[15] 1(0.26) ? 46，XY，t(8；12)(q23；q13)[11]/46，XY[19] 1(0.26)
? 47，XXX 12(3.16) ? 46，XY，t(8；15)(p23；q22) 1(0.26)
? 47，XXX[12]/45，X[5] 1(0.26) ? 46，XY，t(3；15)(q22；q22) 1(0.26)
? 47，XXX[5]/46，XX[18] 1(0.26) ? 46，XX，t(2；4)(q21；q32) 1(0.26)
? 47，XXY 25(6.58) ? 46，XX，t(6；9)(p10′p10) 1(0.26)
? 47，XXY[10]/46，XY[29] 1(0.26) ? 46，XY，t(X；3)(q21；q21)mat 1(0.26)
? 47，XXY[19]/46，XY[14] 1(0.26) 其他染色体异常 20(5.26)
? 47，XYY 6(1.58) ? 46，XX，del(18)(q21) 1(0.26)
? 47，XYY，inv9 1(0.26) ? 46，XX，der(17) 1(0.26)
? 47，XYY[6]/46，XY[14] 1(0.26) ? 46，XX，der(18)(p？) 1(0.26)
? 47，XYY[14]/46，XY[13] 1(0.26) ? 46，XX，der(4)(p？) 1(0.26)
? 47，XYY[3]/46，XY[35] 1(0.26) ? 46，XY，del(11)(q？) 1(0.26)
? 47，XYY[4]/46，XY[35] 1(0.26) ? 46，XY，del(21)(qter→p10) 2(0.53)
染色体异常携带者 49(12.89) ? 47，XY，＋22[3]/46，XY[83] 1(0.26)
? 45，XX，rob(13；14)(q10；q10) 3(0.79) ? 47，XX，＋16[6]/46，XX[20] 1(0.26)
? 45，XX，rob(13；14)(q10；q10)pat 1(0.26) ? 47，XX，＋4[2]/46，XX[28] 1(0.26)
? 45，XX，rob(13；21)(q10；q10) 1(0.26) ? 47，XX，＋7[3]/46，XY[3] 1(0.26)
? 45，XX，rob(14；22)(q10；q10) 2(0.53) ? 47，XX，＋9 1(0.26)
? 45，XX，rob(15；22)(q10；q10)[23]/46，XX[7] 1(0.26) ? 47，XY，＋2[2]/46，XY[33] 1(0.26)
? 45，XX，rob(15；22)(q10；q10)pat 1(0.26) ? 47，XY，＋2[2]/46，XY[36] 1(0.26)
? 45，XY，rob(13；14)(q10；q10)mat 2(0.53) ? 47，XY，＋20[13]/46，XY[17] 1(0.26)
? 45，XY，rob(13；14)(q10；q10) 1(0.26) ? 47，XY，＋20[5]/46，XY[46] 1(0.26)
? 45，XY，rob(14；21)(q10；q10)pat 1(0.26) ? 47，XY，＋4[3]/46，XY[32] 1(0.26)
? 45，XY，rob(14；21)(q10；q10) 1(0.26) ? 47，XY，＋M[8]/46，XY[2] 1(0.26)
? 45，XY，rob(14；22)(q10；q10) 1(0.26) ? 47，XY，＋mar 1(0.26)
? 45，XY，rob(13；14)(q10；q10) 1(0.26) ? 47，XY，＋mar[4]/46，XY[10] 1(0.26)
图1 2009-2013年20 751例高龄孕妇中，不同年份胎儿染色体异常检出率折线图
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