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CASE REPORT article
Front. Genet.
Sec. Molecular Cytogenetics
Volume 16 - 2025 | doi: 10.3389/fgene.2025.1546579
Case Report: A prenatal case with sex discordance between non-invasive prenatal testing and fetal genetic testings due to maternal rare chromosome karyotype
Provisionally accepted- Department of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou, China
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Non-invasive prenatal testing (NIPT), which made use of cell-free DNA (cffDNA) in maternal blood, was currently being applied all over the world for the detection of common chromosome abnormalities. It had relatively high sensitivity and specificity. Nevertheless, studies demonstrated that false positive results happened in 0.3% of the cases due to several factors. These factors included confined placental mosaicism, maternal mosaicism, maternal transfusions, maternal malignancy, vanishing twins and maternal chromosomal abnormalities.We presented a case of a 27-year-old healthy woman, who had a high risk of trisomy 21 syndrome in first-trimester serum screening at 12 gestational weeks.The result of NIPT indicated a high risk of klinefelter syndrome (47, XXY) at 15 weeks gestation. Subsequently, amniocentesis revealed a normal female fetus karyotype (46, XX) at 18 weeks gestation. Discordant sex chromosome results emerged. Eventually, it was discovered that there was a rare maternal karyotype 46,X,der(X)t(X;Y)(p22.3;q11.2), which led to the sex discrepancy between the NIPT and the fetal prenatal diagnostic results.We presented a case in which there was a sex discrepancy between NIPT and fetal genetic testing due to a rare chromosome karyotype in the mother.NIPT was merely a prenatal screening test. Consequently, patients who had a screen-positive result for a chromosomal anomaly following NIPT ought to be properly counselled and advised to undergo an invasive diagnostic procedure for confirmation.
Keywords: NiPt, cffDNA, case report, breakpoint, CNV-seq
Received: 17 Dec 2024; Accepted: 18 Apr 2025.
Copyright: © 2025 Zhong, Wu, Zhong, Chen, Guan, Huang and Chen. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Jianhong Chen, Department of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou, China
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