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. 2022 Oct;49(10):9251-9256.
doi: 10.1007/s11033-022-07754-x. Epub 2022 Aug 12.

Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalities

Nan Guo #  1 , Meiying Cai #  1 , Min Lin  1 , Huili Xue  1 , Hailong Huang  1 , Liangpu Xu  2
Affiliations

Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalities

Nan Guo et al. Mol Biol Rep. 2022 Oct.

Abstract

Background: Early and intermediate serological screening cannot detect sex chromosome abnormalities. Currently, noninvasive prenatal testing (NIPT) is the only procedure available for screening such disorders; however, its use is controversial.

Methods and results: A total of 47,855 pregnant women underwent NIPT at our referral center from January 2014 to December 2020. Of the 314 patients with a positive NIPT indicating sex chromosome abnormalities, 260 were screened via karyotype analysis and single nucleotide polymorphism (SNP) array after amniotic fluid extraction; 96 cases were confirmed. Karyotype analysis and SNP array were consistent in the diagnosis of 88 out of the 96 fetuses. The positive predictive value (PPV) for sex chromosome abnormalities was found to be 36.9%. The PPV in patients aged 30-34 years was significantly higher than that in patients aged < 30 years. No statistically significant difference was observed on the PPV among patients with or without previous adverse pregnancy outcomes. Moreover, 83 women carrying fetuses were diagnosed with a sex chromosome abnormality terminated their pregnancy.

Conclusions: Improvements in detection and analytical technologies are needed to increase the accuracy of sex chromosome abnormalities detection. Pregnant women with a positive NIPT for these abnormalities may require invasive diagnostic procedures such as karyotype analysis and SNP array for better genetic counseling.

Keywords: Genetic counseling; Karyotype analysis; Pregnancy; Single nucleotide polymorphism array.

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Conflict of interest statement

The authors have no competing interests to declare that are relevant to the content of this article.

References

    1. Nicolaides KH, Musci TJ, Struble CA. Assessment of fetal sex chromosome aneuploidy using directed cell-free DNA analysis. Fetal Diagn Ther. 2014;35(1):1–6. doi: 10.1159/000357198. - DOI - PubMed
    1. Bouw N, Swaab H, Tartaglia N. The impact of sex chromosome trisomies (XXX, XXY, XYY) on early social cognition: social orienting, joint attention, and theory of mind. Arch Clin Neuropsychol. 2021;09:1–10. - PMC - PubMed
    1. Bouchlariotou S, Tsikouras P, Dimitraki M. Turner's syndrome and pregnancy: has the 45, X/47, XXX mosaicism a different prognosis? Own clinical experience and literature review. J Matern Fetal Neonatal Med. 2011;24(5):668–672. doi: 10.3109/14767058.2010.520769. - DOI - PubMed
    1. Lo Y, Corbetta N, Chamberlain PF. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997;350(9076):485–487. doi: 10.1016/S0140-6736(97)02174-0. - DOI - PubMed
    1. Mathias E, Cosmin D, Tricia Z. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol. 2011;204(3):205.e1–11. doi: 10.1016/j.ajog.2010.12.060. - DOI - PubMed

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