Prenatal Diagnosis and Pregnancy Selection in Pregnant Women at High Risk of Fetal Sex Chromosome Aneuploidy Disease with NIPT

doi:10.12280/gjfckx.20230703

Abstract

Abstract:

Objective: To investigate the status of prenatal diagnosis of pregnant women at high risk of fetal sex chromosomal aneuploidy (SCA) by noninvasive prenatal testing (NIPT), and the acceptance of SCA fetuses and pregnancy decision among them. Methods: Assemble basic information of 23 804 pregnant women who voluntarily came to Tianjin Women's and Children's Health Center for NIPT testing from December 2019 to February 2023, and conducted retrospective analysis for the interventional prenatal diagnosis and delivery of pregnant women with high risk of fetal SCA suggested by NIPT. Results: The positive rate of NIPT was 0.30% (72/23 730). Among the 72 pregnant women with high risk of fetal SCA detected by NIPT, only 44 cases (61.11%) underwent interventional prenatal diagnosis (all of whom underwent amniocentesis), then 25 cases were confirmed of SCA, with the total positive predictive value (PPV) of 56.82% (25/44). The overall PPV of NIPT for sex chromosomal trisomy syndrome was 95.45% (21/22), and the PPV for sex chromosomal monosomy syndrome was 13.64% (3/22), and the difference between the two groups was statistically significant ( χ²=29.700, P<0.001). Among the patients diagnosed with SCA, 13 cases chose to continue their pregnancies, and all of them had live births at term. The pregnancy termination rates varied for SCA of different subtypes following prenatal diagnosis (47, XXX 20%, 47, XXY 100%, 47, XYY 40%, 45, X 100%). 28 pregnant women who refused to undergo interventional prenatal diagnosis were followed up. 2 cases were lost to follow-up in the third trimester; 1 case of spontaneous abortion did not undergo relevant genetic testing; 1 case was induced due to fetal pleural effusion and omphalocele detected by ultrasound, and the fetus was induced without relevant testing. 24 full-term live births (one of them was followed up half a year after delivery: chromosomal karyotype analysis was performed due to genital problems, and 47, XXY was confirmed). Conclusions: Genetic counseling for high risk of fetal SCA should be comprehensive and cautious. For pregnant women diagnosed with fetal SCA who choose to continue their pregnancy and pregnant women who refuse prenatal diagnosis, comprehensive prenatal monitoring during pregnancy, as well as health management of fetal growth and development monitoring and intervention after delivery, should be provided.

Key words: Non-invasive prenatal testing, Prenatal diagnosis, Sexual chromosomes, Aneuploidy, Pregnancy decision

YAO Jing-yi, FENG Shu-ren, XIE Xiao-yuan, LIU Xia. Prenatal Diagnosis and Pregnancy Selection in Pregnant Women at High Risk of Fetal Sex Chromosome Aneuploidy Disease with NIPT[J]. Journal of International Obstetrics and Gynecology, 2024, 51(1): 32-36.

Figures/Tables 2

References 23

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SCA高危类型	NIPT报告提示内容	NIPT 高危（例）	接受介入性产前诊断（例）	接受产前诊断率（%）	确诊 SCA （例）	阳性预测值（%）
47,XXX	性染色体偏多	13	10	76.92	10	100.00
47,XXY	性染色体偏多	15	6	40.00	6	100.00
47,XYY	性染色体偏多	6	6	100.00	5	83.33
45,X	性染色体偏少	38	22	57.89	3	13.64

SCA高危类型	NIPT报告提示内容	NIPT 高危（例）	接受介入性产前诊断（例）	接受产前诊断率（%）	确诊 SCA （例）	阳性预测值（%）
47,XXX	性染色体偏多	13	10	76.92	10	100.00
47,XXY	性染色体偏多	15	6	40.00	6	100.00
47,XYY	性染色体偏多	6	6	100.00	5	83.33
45,X	性染色体偏少	38	22	57.89	3	13.64

非整倍体类型	胎儿染色体核型	确诊例数	终止妊娠例数	终止妊娠率（%）
三体	47,XXX	10	2	20.00
	47,XXY	6	6	100.00
	47,XYY	5	2	40.00
单体	45,X	1	1	100.00
嵌合体	45,X(25%)/46,XX(75%)	1	0	33.33
	45,X(10%)/46,XX(90%)	1	1
	46,XX(67%)/47,XXX(33%)（非真阳性）	1	0
合计	-	25	12	48.00

非整倍体类型	胎儿染色体核型	确诊例数	终止妊娠例数	终止妊娠率（%）
三体	47,XXX	10	2	20.00
	47,XXY	6	6	100.00
	47,XYY	5	2	40.00
单体	45,X	1	1	100.00
嵌合体	45,X(25%)/46,XX(75%)	1	0	33.33
	45,X(10%)/46,XX(90%)	1	1
	46,XX(67%)/47,XXX(33%)（非真阳性）	1	0
合计	-	25	12	48.00