 |
Case Report
Noninvasive prenatal screening and ultrasonography scan of fetal sex result discordance
1 Medical Student, Texas Tech University Health Sciences Center, School of Medicine, 3601 4th Street, Lubbock, TX, USA
2 Perinatal Medicine, Texas Tech University Health Sciences Center, Department of Obstetrics, 3601 4th Street, 3rd Floor, Lubbock, TX, USA
3 Covenant Maternal-Fetal Diagnostic Center, 4102 24th Street, Suite 101, Lubbock, TX, USA
4 Perinatal Medicine Physician, Covenant Maternal-Fetal Diagnostic Center, Covenant Women’s and Children’s Hospital, 4102 24th Street, Suite 101, Lubbock, TX 79410, USA
Address correspondence to:
Brooke Jensen
Texas Tech University Health Sciences Center, School of Medicine, 3601 4th Street, 3rd Floor, Lubbock, TX 79430,
USA
Message to Corresponding Author
Article ID: 100104Z08BJ2022
Access full text article on other devices
Access PDF of article on other devices
How to cite this article
Jensen B, Atkinson B, Worley K. Noninvasive prenatal screening and ultrasonography scan of fetal sex result discordance. J Case Rep Images Obstet Gynecol 2022;8:100104Z08BJ2022.ABSTRACT
Introduction: Noninvasive prenatal screening (NIPS) for fetal aneuploidies is a screen performed by sequencing placental cell free DNA found in maternal plasma. This is an extremely sensitive and specific screening test with over 99% sensitivity.
Case Report: We present a case of NIPS discordance regarding fetal sex observed on ultrasonography, as well as postnatal phenotype and genetic testing. A preliminary NIPS at 12 weeks gestation revealed no aneuploidies and only X chromosomes; however, 20-week and 23-week ultrasonography demonstrated non-virilized male genitalia. A second NIPS was performed and generated the same findings as the first NIPS. Postnatal exam and fluorescence in situ hybridization (FISH) determined the fetus was of both male phenotype and genotype.
Conclusion: A possible explanation for this patient is mosaic monosomy with a Y-chromosome component (45X/46XY) with normal male phenotype. Sex chromosome mosaicism may not have been detected as placental cfDNA is only a small fraction in maternal circulation.
Keywords: Chromosomal abnormalities, Prenatal diagnosis, Sex chromosomes, Ultrasound
SUPPORTING INFORMATION
Author Contributions
Brooke Jensen - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Bill Atkinson - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Kevin Worley - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Guaranter of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Copyright© 2022 Brooke Jensen et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
