Prenatal diagnosis of chromosome abnormalities and nine microdeletion syndromes using both traditional karyotyping and BoBs

To evaluate a new prenatal diagnosis model of chromosomal abnormalities and nine microdeletion syndromes by using both traditional karyotyping and a newly-developed rapid prenatal diagnosis technology, BACs-on-Beads (BoBs) technique. From June 2012 to December 2014, 807 pregnant women with high risk...

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Veröffentlicht in:Chung-hua fu chʿan kʿo tsa chih 2016-05, Vol.51 (5), p.325-330
Hauptverfasser: Tang, X H, Yang, B C, Zhu, S, Su, J, Zhang, J M, Yin, Y F, Feng, Y, Li, D M, Zhao, Q F, Yu, R, Zhu, B S
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Sprache:chi
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Zusammenfassung:To evaluate a new prenatal diagnosis model of chromosomal abnormalities and nine microdeletion syndromes by using both traditional karyotyping and a newly-developed rapid prenatal diagnosis technology, BACs-on-Beads (BoBs) technique. From June 2012 to December 2014, 807 pregnant women with high risk after screening or with other indicators, were performed amniocentesis. Traditional karyotyping and BoBs were employed simultaneously for prenatal diagnosis. Thirty-two cases with chromosome aneupoidies were successfully detected both by BoBs and karyotyping, including 18 cases of trisomy 21, 6 cases of trisomy 18, 1 case of trisomy 13, and 7 cases with sex chromosome abnormality. All 8 fetuses with chromosome structural abnormalities detected by karyotyping were missed by BoBs; while BoBs contributed more in detection of five microdeletion syndrome cases, including 3 cases of DiGeorge syndromes (two with microduplication and one with microdeletion), one case of Miller-Dieker syndrome, and one case of Wolf-Hirschh
ISSN:0529-567X
DOI:10.3760/cma.j.issn.0529-567X.2016.05.002