| Title: |
Cell‐free fetal DNA sex determination identified a maternal SRY gene with a known X chromosome deletion |
| Authors: |
Searle, C. J.; Smith, K.; Daniels, G.; Maher, E. J.; Quarrell, O. |
| Source: |
Prenatal Diagnosis ; volume 33, issue 6, page 612-613 ; ISSN 0197-3851 1097-0223 |
| Publisher Information: |
Wiley |
| Publication Year: |
2013 |
| Collection: |
Wiley Online Library (Open Access Articles via Crossref) |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1002/pd.4078 |
| Availability: |
https://doi.org/10.1002/pd.4078; https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fpd.4078; https://obgyn.onlinelibrary.wiley.com/doi/pdf/10.1002/pd.4078 |
| Rights: |
http://onlinelibrary.wiley.com/termsAndConditions#vor |
| Accession Number: |
edsbas.421E810A |
| Database: |
BASE |