We have located links that may give you full text access.
[Application of BoBs technique for 690 cases of prenatal diagnosis].
Zhonghua Yi Xue Yi Chuan Xue za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics 2018 Februrary 11
OBJECTIVE To assess the value of BAC-on-Beads(BoBs) technology combined with conventional chromosomal karyotyping for reducing birth defects. METHODS For 690 women with singleton pregnancy and indication for prenatal diagnosis, aneuploidies of chromosomes 13, 18, 21, X and Y, in addition with 9 microdeletions and microduplications, were detected with the BoBs assay. And the results were compared with that of conventional karyotyping of amniocytes. RESULTS Karyotyping analysis attained a positive rate of 6.08% (42/690), which included 36 aneuploidies and 6 structural aberrations. The BoBs assay attained a detection rate of 5.95% (41/689). In addition to all chromosomal aneuploidies detected by conventional karyotyping, the Bobs assay has detected 3 cases with Xp22 region microdeletions, 1 case with 22q11 segment duplication, and 1 case with 5p15 microduplication. No balanced translocation or chromosomal polymorphisms was detected. CONCLUSION BoBs technique combined with conventional karyotyping is suitable for rapid diagnosis of a large number of prenatal cases and increasing the detection rate for fetal chromosomal abnormalities.
Full text links
Related Resources
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app