Genetic diagnosis and noninvasive prenatal testing of a family with Williams-Beuren syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 263-266, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-772028
ABSTRACT
OBJECTIVE@#To explore the genetic basis of a fetus with ventricular septal defect (VSD) by using modified noninvasive prenatal testing (NIPT) for the detection of microdeletion syndromes.@*METHODS@#Chromosomal karyotypes of the fetus and its parents were analyzed by G-banding technique. Next generation sequencing (NGS) was used to detect genomic copy number variations (CNVs) in cell-free fetal DNA. The results were verified by fluorescence in situ hybridization (FISH).@*RESULTS@#The fetus and its parents all had a normal karyotype at 320-400 band level. NGS revealed a deletion of 1.30 Mb at 7q11.23 in the fetus, with a 93% overlap with that of Williams-Beuren syndrome (WBS). The father also had a deletion of 1.42 Mb at 7q11.23, with a 99% overlap with that of WBS. Modified NIPT also detected the 1.30 Mb deletion at 7q11.23 in the fetus. The result of FISH has confirmed the above results.@*CONCLUSION@#It is necessary to carry out genetic testing on fetuses with VSD. NGS can detect fetal microdeletion syndromes and help to trace their parental origin. The modified NIPT for fetal chromosomal microdeletions/microduplication syndromes is highly accurate.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Genetic Testing
/
In Situ Hybridization, Fluorescence
/
Williams Syndrome
/
DNA Copy Number Variations
/
Karyotyping
Type of study:
Diagnostic study
Limits:
Female
/
Humans
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
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