Detection of Y chromosome material in a 46,XX male with SRY translocation: novel application of cell-free fetal DNA testing

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...

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Bibliographic Details
Published in:Prenatal diagnosis 2015-08, Vol.35 (8), p.823-825
Main Authors: Benedict, Kalina, Han, Christina S., Silverman, Neil S., Krakow, Deborah, Platt, Lawrence D.
Format: Article
Language:English
Subjects:
46, XX Testicular Disorders of Sex Development - diagnosis
46, XX Testicular Disorders of Sex Development - genetics
Adult
Chromosomes
Chromosomes, Human, Y
Deoxyribonucleic acid
DNA
DNA - blood
Female
Genes, sry
Genetic testing
Humans
Male
Maternal Serum Screening Tests
Translocation, Genetic
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Summary: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.
ISSN:0197-3851
1097-0223
DOI:10.1002/pd.4604