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Cell‐free fetal DNA sex determination identified a maternal SRY gene with a known X chromosome deletion
Author(s) -
Searle C. J.,
Smith K.,
Daniels G.,
Maher E. J.,
Quarrell O.
Publication year - 2013
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4078
Subject(s) - testis determining factor , sexing , cell free fetal dna , biology , y chromosome , genetics , fetus , chromosomal translocation , dna , polymerase chain reaction , gene , chromosome , microbiology and biotechnology , prenatal diagnosis , pregnancy
What's already known about this topic? Cell‐free fetal DNA testing is commonly used as a noninvasive method of determing fetal sex. Presence of sex‐determining region Y (SRY) on the X chromosome is associated with a variable sexual phenotype.What does this study add? Details an unexpected cell‐free fetal DNA sexing result. Highlights the importance of using the technique of quantitative polymerase chain reaction in free fetal DNA testing. If a similar result is found again, we would recommend further testing of the maternal chromosomes to look for a translocation encompassing the sex‐determining region Y (SYR) gene.