Application of BACs-on-Beads and karyotyping for the prenatal diagnosis of 1371 pregnant women with a high risk / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 542-545, 2017.
Article
in Chinese
| WPRIM
| ID: wpr-335087
ABSTRACT
<p><b>OBJECTIVE</b>To assess the value of combined BACs-on-Beads(BoBs) and chromosomal karyotyping for the diagnosis of women with high-risk pregnancy.</p><p><b>METHODS</b>For 1371 women with singleton pregnancy and various indications for prenatal diagnosis, karyotyping and BoBs were simultaneously applied on their amnionic fluid samples.</p><p><b>RESULTS</b>In total 23 cases of trisomy 21, 11 cases of trisomy 18, 5 cases of sex chromosome aneuploidies, 6 cases of microdeletions/microduplications, 2 cases of chimeric chromosomes and 1 case of structural chromosomal abnormality were detected by the BoBs assay, among which the 6 microdeletions/microduplications were not detected by karyotyping. Karyotyping analysis has identified an extra yield of 19 chromosomal abnormalities and 34 chromosomal polymorphisms.</p><p><b>CONCLUSION</b>Combined use of BoBs and chromosomal karyotyping can improve the detection rate of fetal chromosomal abnormalities including microdeletions/microduplications, which should find a wider use in the clinics.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Chromosome Aberrations
/
Chromosome Disorders
/
Genetics
/
Karyotyping
/
Methods
Type of study:
Diagnostic study
/
Etiology study
Limits:
Adult
/
Female
/
Humans
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2017
Type:
Article
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