Prenatal diagnosis of a 46,<scp>XX</scp> male following noninvasive prenatal testing

Mansfield, Nerida; Boogert, Tom; McLennan, Andrew

doi:10.1002/ccr3.352

Cited by 14 publications

(11 citation statements)

References 17 publications

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“…Prenatal karyotyping was performed in 38 cases (65.5%) and postnatally in 9 cases. There were 11 cases (19.0%) without prenatal (1), and live birth with normal neonatal examinations (9). The two participants with dual aneuploidy high risk results made decisions regarding invasive prenatal testing based on the autosomal abnormality potential rather than the SCA and are not included in the SCA invasive testing results (Table 1).…”

Section: Resultsmentioning

confidence: 99%

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Non-Invasive Prenatal Testing for Sex Chromosome Aneuploidy in Routine Clinical Practice

Kornman

Palma-Dias

Nisbet³

et al. 2017

Fetal Diagn Ther

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Objectives: To assess the accuracy of non-invasive prenatal testing (NIPT) for sex chromosome aneuploidy (SCA) in routine clinical practice and to review counselling and sonographic issues arising in SCA cases. Methods: Three specialist Australian obstetric ultrasound and prenatal diagnosis practices offering NIPT after 10 weeks' gestation participated in this study. NIPT was reported for chromosomes 21, 18, 13, X, and Y. Results: NIPT screening was performed in 5,267 singleton pregnancies. The odds of being affected given a positive screening result (OAPR) was lowest for SCAs, most notably for monosomy X (20%). Fewer women underwent invasive prenatal testing when counselled regarding a high risk for SCA (65.5%) compared with those who had a high risk for another aneuploidy (85%). The positive screening rate of NIPT including SCA was 2.3%, but 1.2% if only the autosomal trisomies were included in the panel. Conclusion: The addition of SCA testing to NIPT doubles the positive screening rate. The OAPR for SCAs (most notably for monosomy X) is reduced compared with the autosomal trisomies. Clinicians need a more extensive discussion with women prior to the inclusion of the X and Y chromosomes in the NIPT panel, given the complexity in counselling regarding further management and the additional anxiety that these abnormal results may cause. A benefit of sex chromosome analysis is an improvement in antenatal diagnosis of some disorders of sexual development.

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Section: Resultsmentioning

confidence: 99%

“…aCGH and fluorescence in situ hybridization testing revealed an unbalanced translocation involving the short arms of X and Y chromosomes, which included the SRY region (SRY-positive 46,XX testicular disorder of sexual development) [9].…”

Section: Casementioning

confidence: 99%

Non-Invasive Prenatal Testing for Sex Chromosome Aneuploidy in Routine Clinical Practice

Kornman

Palma-Dias

Nisbet³

et al. 2017

Fetal Diagn Ther

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“…Variations in the traditional XX or XY fetal karyotype may result in conditions where the genotype is discordant with the phenotype (Richardson et al, ). Mansfield et al () reported diagnosis of a 46, XX male following NIPS. In this case, a 40‐year‐old woman underwent NIPS at 10 weeks gestation.…”

Section: Discussionmentioning

confidence: 99%

“…The patient subsequently underwent an amniocentesis for cytogenetic testing that was consistent with Chromosomes X and partial Y, which contained the marker for SRY gene that is responsible for the initiation of male sex determination in humans. An unbalanced translocation was determined to be the cause for this discordance (Table ) (Mansfield 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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“…Third, prenatally obtained fetal sex information can favor unethical sex selection, if not prohibited by legal obligations. Fourth, NIPT based fetal sex determination can potentially be discordant to ultrasound-or karyotype-based gender determination due to congenital adrenal hyperplasia [48], androgen insensitivity [49] or gonosomal translocations [50]. Apart from these confounding factors, several technical challenges with gonosomal sequencing result in suboptimal SCA-or fetal sex-detection.…”

Section: The Performance Of Niptmentioning

confidence: 99%

Current status of non-invasive prenatal testing (NIPT): genetic counseling, dominant methods and overall performance

Harasim¹,

Rost

Klein³

2016

LaboratoriumsMedizin

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Abstract:The introduction of non-invasive prenatal testing (NIPT) into prenatal care represents a paradigm shift. With the absence of any intervention risk in contrast to invasive diagnostic procedures, NIPT has been widely adopted for the detection of fetal trisomy 13, 18 and 21. Additionally, fetal sex chromosome aneuploidy testing and sex determination are available, but can be compromised by both, medical and legal factors. Available validation studies were predominantly based on patients with a high a priori aneuploidy risk, determined by trimester screening or invasive diagnostics. In this review, we discuss the interpretation of NIPT results in context of patient specific risk constellations, the available performance data and dominant methodical approaches of NIPT including necessary content of genetic counseling.

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Prenatal diagnosis of a 46,XX male following noninvasive prenatal testing

Cited by 14 publications

References 17 publications

Non-Invasive Prenatal Testing for Sex Chromosome Aneuploidy in Routine Clinical Practice

Non-Invasive Prenatal Testing for Sex Chromosome Aneuploidy in Routine Clinical Practice

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

Current status of non-invasive prenatal testing (NIPT): genetic counseling, dominant methods and overall performance

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