C. J. Searle, K. Smith, G. Daniels, E. J. Maher and O. Quarrell Cell-free fetal DNA sex determination identified a maternal SRY gene with a known X chromosome deletion Prenatal Diagnosis 33
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.
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