Abstract
What's already known about this topic? Cell-free fetal DNA testing has become an established tool for trisomies 13, 18, and 21 screening in pregnancy, as well as for sex chromosome aneuploidies. It has not been a part of clinical care for long enough to present us with clear information on rare cases of disorders of sex development. What does this study add? This case shows that cell-free fetal DNA testing was likely able to detect Y chromosome material present in the fetal genome, regardless of its location. This case underscores the notion that special attention should be paid to cases in which there is a gender discrepancy, whether it involves cell-free fetal DNA testing, ultrasound scans, or diagnostic tests, as it may represent a rare chromosomal or genetic condition.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
