Sex discordance identification following non‐invasive prenatal testing

Richardson, Ebony; Scott, Fergus; McLennan, Andrew

doi:10.1002/pd.5184

Cited by 35 publications

(47 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A case report involving a normal female by NIPT with male external genitalia in a routine fetal morphology assessment was first reported by Mansfield et alIn this work, a fetus with an unbalanced translocation involving the short arms of the X and Y chromosomes was described. Very recently, a series of cases have been reported on sex discordance following NIPT that highlights the many potential and complex explanations for these discordant results . A discrepancy in sex determination between chromosomal results and phenotypic manifestation is usually evident in the neonatal period or later at puberty.…”

Section: Discussionmentioning

confidence: 99%

Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing

Falco¹,

Savarese²,

Suero³

et al. 2019

Clinical Case Reports

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 99%

Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing

Falco¹,

Savarese²,

Suero³

et al. 2019

Clinical Case Reports

View full text Add to dashboard Cite

show abstract

“…We were unable to calculate the incidence of discordant NIPS for fetal sex at our center because data for the total number of women tested with NIPS were unavailable. In a larger case series, the incidence of discordant NIPS sex chromosome results was reported as approximately 1 in 1500–2000 (Richardson et al, ).…”

Section: Discussionmentioning

confidence: 99%

“…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.…”

Section: Discussionmentioning

confidence: 99%

“…Typically, such cases are identified because of delayed puberty or infertility. With the availability of NIPS, these cases may be more commonly identified in early pregnancy (Richardson et al, ).…”

Section: Discussionmentioning

confidence: 99%

“…Sex discordant results occur in patients who undergo NIPS at an incidence of approximately 1 in 1500–2000 pregnancies (Richardson et al, ). Our cases further attest to the possible limitations of NIPS in correctly identifying sex chromosomes.…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

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

View full text Add to dashboard Cite

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.

show abstract

Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis

Benn¹

2021

Genetic Disorders and the Fetus

View full text Add to dashboard Cite

Sex discordance identification following non‐invasive prenatal testing

Cited by 35 publications

References 7 publications

Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing

Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing

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

Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis

Contact Info

Product

Resources

About