Results of non-invasive prenatal testing to pregnant women: a large sample analysis

doi:10.3877/cma.j.issn.1673-5250.2022.06.010

Objective

To investigate the analysis and abnormalities of non-invasive prenatal testing (NIPT) results in a large sample of pregnant women.

Methods

A total of 22 908 pregnant women who underwent NIPT in Guiyang Maternal and Child Health Care Hospital from January 1, 2018 to December 31, 2020 were selected as research subjects. Further prenatal diagnosis by amniocentesis for karyotype analysis was performed on those with high risk of NIPT results. The age, NIPT indication, prenatal diagnosis results and other clinical data of all pregnant women were retrospectively collected. The procedure followed in this study was in accordance with the regulations of the Ethics Committee of Guiyang Maternal and Child Health Care Hospital, and was reviewed and approved by the Ethics Committee (Approval No.2021-56).

Results

①Among 22 908 pregnant women, NIPT indications included: 7 286 cases (31.81%) of pregnant women with advanced age (≥35 years old at expected date of delivery), 2 491 cases (10.87%) with abnormal serological screening results, 610 cases (2.66%) received NIPT due to missed serological screening, 563 cases (2.46%) with other NIPT indications (poor pregnancy and labor history, choroids from cysts in fetal ultrasound, termination of one of the twins, etc.), and 11 958 cases (52.20%) volunteered for NIPT without NIPT indication. ②Among 22 908 pregnant women, 363 cases (1.58%) were with high risk of NIPT, including 72 cases (0.31%) of high risk of fetal 21-trisomy syndrome (TS), 20 cases (0.09%) of fetal 18-TS, 10 cases (0.04%) of 13-TS, 131 cases (0.57%) of sex chromosome aneuploidy (SCA) and 130 cases (0.57%) of other chromosomal abnormalities, respectively, accounting for 19.83% (72/363), 5.51% (20/363), 2.75% (10/363), 36.09% (131/363) and 35.81% (130/363) of the high risk of NIPT. ③Among 363 cases with high risk of NIPT, 298 cases (82.09%) received amniocentesis chromosome karyotype analysis. There were 186 cases (62.42%) with prenatal diagnosis results consistent with NIPT results. The diagnostic rate of NIPT screening for fetal 21-TS, 18-TS, 13-TS, SCA and other chromosomal abnormalities was 93.06% (67/72), 90.00% (18/20), 88.89% (8/9), 55.56% (70/126) and 32.40% (23/71), respectively. Among the pregnant women with confirmed fetal 21-TS and SCA, pregnant women with advanced age accounted for 71.64% (48/67) and 55.71% (39/70), respectively.

Conclusions

Fetal SCA, other chromosomal abnormalities and 21-TS are the main risk factors of NIPT in pregnant women in this study. The advanced age of pregnant women is an important factor affecting the high risk of fetal 21-TS and SCA. The accuracy of NIPT results is related to the types of chromosomal abnormalities.

Key words: Non-invasive prenatal testing, Prenatal diagnosis, Chromosome aberrations, Sex chromosome aberrations, Maternal serum screening tests, Pregnant women, Fetus

表1 本组22 908例NIPT孕妇NIPT筛查指征比较

NIPT筛查指征	例数	构成比(%)
孕妇高龄(预产期年龄≥35岁)	7 286	31.81
血清学筛查结果异常	2 491	10.87
错过血清学筛查时间	610	2.66
其他NIPT筛查指征^a	563	2.46
自愿进行NIPT筛查^b	11 958	52.20
合计	22 908	100.00

表1 本组22 908例NIPT孕妇NIPT筛查指征比较

NIPT筛查指征	例数	构成比(%)
孕妇高龄(预产期年龄≥35岁)	7 286	31.81
血清学筛查结果异常	2 491	10.87
错过血清学筛查时间	610	2.66
其他NIPT筛查指征^a	563	2.46
自愿进行NIPT筛查^b	11 958	52.20
合计	22 908	100.00

表2 本组22 908例NIPT筛查结果为高、低风险孕妇的NIPT筛查指征及二胎妊娠占比比较[例数(%)]

NIPT筛查结果	例数	孕妇高龄	自愿进行NIPT筛查^a	血清学筛查结果异常	错过血清学筛查时间	其他NIPT筛查指征^b	二胎妊娠
高风险	363	106(29.20)	190(52.34)	30(8.26)	20(5.51)	17(4.68)	79(21.76)
低风险	22 545	7 180(31.85)	11 768(52.20)	2 461(10.92)	590(2.62)	546(2.42)	3 807(16.89)
χ²值		1.15	0.01	2.59	11.53	7.62	6.03
P值		0.283	0.956	0.107	<0.001	0.006	0.014

表2 本组22 908例NIPT筛查结果为高、低风险孕妇的NIPT筛查指征及二胎妊娠占比比较[例数(%)]

NIPT筛查结果	例数	孕妇高龄	自愿进行NIPT筛查^a	血清学筛查结果异常	错过血清学筛查时间	其他NIPT筛查指征^b	二胎妊娠
高风险	363	106(29.20)	190(52.34)	30(8.26)	20(5.51)	17(4.68)	79(21.76)
低风险	22 545	7 180(31.85)	11 768(52.20)	2 461(10.92)	590(2.62)	546(2.42)	3 807(16.89)
χ²值		1.15	0.01	2.59	11.53	7.62	6.03
P值		0.283	0.956	0.107	<0.001	0.006	0.014

表3 本组363例NIPT筛查结果为胎儿染色体不同非整倍体异常孕妇的NIPT筛查指征及二胎妊娠占比比较[例数(%)]

NIPT筛查结果	例数	孕妇高龄	自愿进行NIPT筛查^a	血清学筛查结果异常	错过血清学筛查时间	其他NIPT筛查指征^b	二胎妊娠
21-TS高风险	72	52(72.22)	9(12.50)	10(13.89)	0(0)	1(1.39)	15(20.83)
18-TS高风险	20	8(40.00)	9(45.00)	2(10.00)	1(5.00)	0(0)	3(15.00)
13-TS高风险	10	1(10.00)	7(70.00)	1(10.00)	0(0)	1(10.00)	2(20.00)
SCA	131	26(19.85)	78(59.54)	13(9.92)	13(9.92)	1(0.76)	46(35.11)
胎儿其他染色体异常	130	19(14.62)	87(66.92)	4(3.08)	6(4.62)	14(10.77)	13(10.00)
合计	363	106(29.20)	190(52.34)	30(8.26)	20(5.51)	17(4.68)	79(21.76)

表3 本组363例NIPT筛查结果为胎儿染色体不同非整倍体异常孕妇的NIPT筛查指征及二胎妊娠占比比较[例数(%)]

NIPT筛查结果	例数	孕妇高龄	自愿进行NIPT筛查^a	血清学筛查结果异常	错过血清学筛查时间	其他NIPT筛查指征^b	二胎妊娠
21-TS高风险	72	52(72.22)	9(12.50)	10(13.89)	0(0)	1(1.39)	15(20.83)
18-TS高风险	20	8(40.00)	9(45.00)	2(10.00)	1(5.00)	0(0)	3(15.00)
13-TS高风险	10	1(10.00)	7(70.00)	1(10.00)	0(0)	1(10.00)	2(20.00)
SCA	131	26(19.85)	78(59.54)	13(9.92)	13(9.92)	1(0.76)	46(35.11)
胎儿其他染色体异常	130	19(14.62)	87(66.92)	4(3.08)	6(4.62)	14(10.77)	13(10.00)
合计	363	106(29.20)	190(52.34)	30(8.26)	20(5.51)	17(4.68)	79(21.76)

表4 NIPT筛查结果为高风险的298例孕妇的NIPT筛查指征及进一步产前诊断情况与二胎妊娠占比比较[例数(%)]

NIPT筛查结果	产前诊断例数	确诊总例数^a	孕妇高龄^b	自愿进行NIPT筛查^b	血清学筛查结果异常^b	错过血清学筛查时间^b	其他NIPT筛查指征^b	二胎妊娠^b
21-TS高风险	72	67(93.06)	48(71.64)	9(13.43)	9(13.43)	0(0)	1(1.49)	13(19.40)
18-TS高风险	20	18(90.00)	7(38.89)	8(44.44)	2(11.11)	1(5.56)	0(0)	2(11.11)
13-TS高风险	9	8(88.89)	2(25.00)	5(62.50)	0(0)	0(0)	1(12.50)	1(12.50)
SCA	126	70(55.56)	39(55.71)	21(30.00)	5(7.14)	4(5.71)	1(1.43)	18(25.71)
胎儿其他染色体异常	71	23(32.40)	8(34.78)	10(43.48)	0(0)	1(4.35)	4(17.39)	7(30.43)
合计	298	186(62.42)	104(55.91)	53(28.49)	16(8.60)	6(3.23)	7(3.76)	41(22.04)

表4 NIPT筛查结果为高风险的298例孕妇的NIPT筛查指征及进一步产前诊断情况与二胎妊娠占比比较[例数(%)]

NIPT筛查结果	产前诊断例数	确诊总例数^a	孕妇高龄^b	自愿进行NIPT筛查^b	血清学筛查结果异常^b	错过血清学筛查时间^b	其他NIPT筛查指征^b	二胎妊娠^b
21-TS高风险	72	67(93.06)	48(71.64)	9(13.43)	9(13.43)	0(0)	1(1.49)	13(19.40)
18-TS高风险	20	18(90.00)	7(38.89)	8(44.44)	2(11.11)	1(5.56)	0(0)	2(11.11)
13-TS高风险	9	8(88.89)	2(25.00)	5(62.50)	0(0)	0(0)	1(12.50)	1(12.50)
SCA	126	70(55.56)	39(55.71)	21(30.00)	5(7.14)	4(5.71)	1(1.43)	18(25.71)
胎儿其他染色体异常	71	23(32.40)	8(34.78)	10(43.48)	0(0)	1(4.35)	4(17.39)	7(30.43)
合计	298	186(62.42)	104(55.91)	53(28.49)	16(8.60)	6(3.23)	7(3.76)	41(22.04)

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