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. 2021 Mar;38(3):727-734.
doi: 10.1007/s10815-020-02056-2. Epub 2021 Feb 10.

Noninvasive prenatal detection of fetal sex chromosome abnormalities using the semiconductor sequencing platform (SSP) in Southern China

Jiexia Yang  1   2 , Yaping Hou  1   2 , Fangfang Guo  1   2 , Haishan Peng  1   2 , Dongmei Wang  1   2 , Yi Li  1   2 , Haoxin Oy  1   2 , Yixia Wang  1   2 , Jian Lu  1   2 , Aihua Yin  3   4
Affiliations

Noninvasive prenatal detection of fetal sex chromosome abnormalities using the semiconductor sequencing platform (SSP) in Southern China

Jiexia Yang et al. J Assist Reprod Genet. 2021 Mar.

Abstract

Background: Noninvasive prenatal testing (NIPT) has been widely used to screen for fetal aneuploidies, including fetal sex chromosome aneuploidies (SCAs). However, there is less information on the performance of NIPT in detecting SCAs.

Methods: A cohort of 47,800 pregnancies was recruited to review the high-risk NIPT results for SCAs. Cell-free fetal DNA (cffDNA) was extracted and sequenced. All NIPT high-risk cases were recommended to undergo invasive prenatal diagnosis for karyotyping analysis and chromosome microarray analysis (CMA).

Results: A total of 238 high-risk cases were detected by NIPT, including 137 cases of 45,X, 27 cases of 47,XXX, and 74 cases of 47,XYY/47,XXY. Prenatal diagnosis, including karyotyping analysis and CMA, was available in 170 cases. The positive predictive value (PPV) was 30.00% for 45,X, 70.58% for 47,XXX, and 81.13% for 47,XYY/47,XXY. In addition, 13 cases of sex chromosome mosaicism and 9 cases of sex chromosome CNVs were incidentally found in this study.

Conclusion: Our study showed that NIPT was reliable for screening SCAs based on a large sample, and it performed better in predicting sex chromosome trisomies than monosomy X. Our study will provide an important reference for clinical genetic counseling and further processing of the results.

Keywords: Copy number variations (CNVs); Mosaicism; Noninvasive prenatal test (NIPT); Positive predictive values (PPVs); Sex chromosome aneuploidies (SCAs).

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Conflict of interest statement

The authors declare that they have no conflicts of interest.

The authors declare that they have no competing interests and the patients in this case report had provided their consent for publication.

Figures

Fig. 1
Fig. 1
Flowchart of noninvasive prenatal test (NIPT) results and the clinical outcomes of pregnant women
Fig. 2
Fig. 2
Karyotype analysis of the peripheral blood of pregnant women in case 8. The arrow indicates that the mother’s karyotype is a mosaic of X chromosome monosomy and X chromosome trisomy
Fig. 3
Fig. 3
CMA results of case 18. The arrow indicates that the Y chromosome had a 13.7 Mb deletion and the X chromosome had a 4.1 Mb duplication
Fig. 4
Fig. 4
Ultrasound examination results of case 18. (a) Ultrasound results suggest tricuspid regurgitation. (b) The maleness of the fetus was confirmed at 24 weeks
See this image and copyright information in PMC

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