Maternal 47,XX,i(X)(q10) as a cause of false positive sex chromosome aneuploidy in noninvasive prenatal screening

DeMaio, Alison; Green, Andrew J.; Daly, Seán

doi:10.1002/pd.4838

Cited by 2 publications

(4 citation statements)

References 16 publications

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“…Yao et al [40] demonstrated for the first time that maternal genomic materials could affect NIPT accuracy. Afterward, many studies demonstrated that maternal factors could significantly affect the accuracy of NIPT for fetal SCAs [8, [16][17][18][19][20][21][22][23][24]41]. Wang et al [8] reported that maternal X chromosome aneuploidy and mosaicism were responsible for approximately 8.6% of discordant NIPT results for SCAs.…”

Section: Discussionmentioning

confidence: 99%

“…Zhang et al [20] reported that SCA results were associated with the presence of maternal ChrX genetic anomalies in 21 cases (24.42%), which indicated that maternal SCA was an important cause for the false positivity of fetal SCAs by NIPT. De-Maio et al [41] presented a case of abnormal maternal karyotype 47,XX,i(X)(q10) showing false positivity for fetal SCA. In this study, our data showed that 12.34% of the false positivity in NIPT results was caused by maternal sex chromosome abnormalities.…”

Section: Discussionmentioning

confidence: 99%

“…There were other potential biological causes for SCA discordance, such as maternal malignancy or X chromosome loss due to aging. Therefore, maternal karyotype may serve as a confounding factor in NIPT for SCAs, which should be highly recommended to confirm the maternal karyotypes for cases with abnormal SCA results in NIPT to eliminate the influence of maternal factors [8,11,12,41,42]. However, such recommendation may raise ethical concerns, particularly the pregnant women that were not aware of carrying altered X karyotypes [8,13].…”

Section: Discussionmentioning

confidence: 99%

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Efficiency of Noninvasive Prenatal Testing for Sex Chromosome Aneuploidies

Shi

et al. 2021

Gynecol Obstet Invest

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Objective: This study was designed to investigate the efficiency of noninvasive prenatal testing (NIPT) for screening fetal sex chromosome aneuploidies (SCAs) through sequencing of cell-free DNA in maternal plasma. Methods: This is a retrospective study on the positive NIPT results for SCAs collected from our hospital between January 2012 and December 2018. Samples with positive NIPT results for SCAs were then confirmed by prenatal or postnatal karyotyping analysis. Results: After cytogenetic analysis, abnormal karyotypes were confirmed in 104 cases and the overall positive predictive value (PPV) of NIPT for SCAs was 43.40% (102/235). The most frequently detected karyotypes included 47,XXY (n = 42), 47,XXX (n = 20), 47,XYY (n = 16), and 45,X (n = 2). Meanwhile, 10 cases were confirmed with mosaic karyotype 45,X/46,XX and 14 cases with numerical or structural chromosome abnormalities, including a double trisomy 48,XXX,+18. Cytogenetic results from the other 131 cases showed normal XX or XY, which were discordant with NIPT results. Upon analysis of parental karyotypes, 29 (12.34%) showed false positivity in NIPT results that were caused by maternal sex chromosome abnormalities. Conclusion: NIPT is an effective screening tool for SCA with a PPV of 43.40%. Maternal karyotype abnormalities occurred in 12.34% of the cases with abnormal NIPT. Diagnostic testing of the fetus and the mother are recommended.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Efficiency of Noninvasive Prenatal Testing for Sex Chromosome Aneuploidies

Shi

et al. 2021

Gynecol Obstet Invest

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“…Postnatal karyotype was 46, XX. Maternal karyotype was later performed and revealed 47, XX, i(X) (q10) (in addition to having two normal X chromosomes, the mother had an isochromosome for the long arm of the X chromosome, resulting in two additional copies of the long arm of the X chromosome) (Table ) (DeMaio et al, ).…”

Section: Discussionmentioning

confidence: 99%

Fetal sex discordance between noninvasive prenatal screening results and sonography: A single institution's experience and review of the literature

Sylvester-Armstrong

Rasmussen

Shoraka

et al. 2019

Birth Defects Research

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Background With the increasing availability of noninvasive prenatal screening (NIPS) and high‐resolution ultrasound, more cases of sex discordance are being identified in routine clinical practice. This can be a source of much concern for families and clinicians. Knowledge about the limitations of NIPS and reasons for discordant results are critical for counseling parents. Aims Here, we present three cases from a single tertiary care referral center. We also review the literature to address potential limitations of NIPS in correctly identifying fetal sex chromosomes. Materials and Methods After Institutional Review Board approval, cases of discordant fetal sex were identified using ICD‐9 and ICD‐10 codes. In addition, departmental counseling database and cytogenetics laboratory logbooks were reviewed. Results In our first case, a 37‐year‐old G4 P2012 underwent NIPS at 11 weeks gestation and Monosomy X (associated with Turner syndrome) was identified. Morphological sonographic assessment at 20 weeks gestation was consistent with a female fetus following an amniocentesis at 16 weeks that revealed normal 46, XX karyotype. During the third trimester, the patient was diagnosed with Stage IV invasive ductal carcinoma of the breast. Postnatal follow‐up of the neonate was consistent with a phenotypic female. In the second case, a 22‐year‐old G2 P1001 obese female underwent NIPS at 14 weeks gestation and normal 46, XY karyotype was identified. Morphological sonographic assessment at 20 weeks was not consistent with a male fetus. The patient declined invasive testing. Postnatally, the karyotype was 46, XX and the neonate was phenotypically female. The reason for the discordant results was not identified. In the third case, a 25‐year‐old G1 P0 obese female underwent NIPS at 13 weeks gestation and normal 46, XY karyotype was identified. Morphological sonographic assessment at 20 weeks was indeterminate; however, follow‐up at 24 weeks was consistent with a female fetus. The patient declined invasive prenatal testing. Postnatally, the karyotype was 46, XX, and the neonate was phenotypically female with uterus present on ultrasound. The reason for the discordant results was not identified. Discussion Our cases demonstrate possible limitations of NIPS in correctly identifying sex chromosomes. Conclusions Providers and patients need to be aware of these limitations, and invasive diagnostic prenatal testing should be offered in cases of discordance between NIPS and sonographic sex assessment.

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Maternal 47,XX,i(X)(q10) as a cause of false positive sex chromosome aneuploidy in noninvasive prenatal screening

Cited by 2 publications

References 16 publications

Efficiency of Noninvasive Prenatal Testing for Sex Chromosome Aneuploidies

Efficiency of Noninvasive Prenatal Testing for Sex Chromosome Aneuploidies

Fetal sex discordance between noninvasive prenatal screening results and sonography: A single institution's experience and review of the literature

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