Analysis of genome-wide copy number variations among fetuses with abnormalities detected by prenatal ultrasouography / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 178-182, 2017.
Article
in Chinese
| WPRIM
| ID: wpr-335161
ABSTRACT
<p><b>OBJECTIVE</b>To explore the genetic etiology of fetal abnormalities detected by prenatal ultrasound through single nucleotide polymorphism (SNP array) analysis.</p><p><b>METHODS</b>Two hundred and eight fetuses were tested with SNP array and conventional karyotyping. Complex copy number variations (CNVs) were verified with fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and quantitative fluorescence polymerase chain reaction (QF-PCR).</p><p><b>RESULTS</b>For the 208 cases, the diagnostic yields of conventional karyotping and SNP assay were 8.2%(17/208) and 13.9%(29/208), respectively. For fetuses with malformations of the cardiovascular system, central nervous system or multiple systems, pathogenic CNVs was detected in 4.6% (8/174), 2.3%(4/174), and 1.1% (2/174) of all fetuses, respectively. No pathogenic CNVs was detected among those with abnormalities of the renal system, digestive system, skeletal system, facial dysmorphism or respiratory system.</p><p><b>CONCLUSION</b>CNVs are significantly related with birth defects. Compared with conventional karyotyping, SNP array is a better platform for CNVs detection and can provide more clues for genetic counseling, recurrence risk assessment and prenatal diagnosis.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pregnancy Complications
/
Prenatal Diagnosis
/
Diagnostic Imaging
/
Chromosome Aberrations
/
Ultrasonography
/
Polymorphism, Single Nucleotide
/
Diagnosis
/
Genome-Wide Association Study
/
DNA Copy Number Variations
/
Fetal Diseases
Type of study:
Diagnostic study
Limits:
Adult
/
Female
/
Humans
/
Male
/
Infant, Newborn
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2017
Type:
Article
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