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P05.03: The prenatal sonographic diagnosis and value assessment of fetal intra‐abdominal cystic lesions
Author(s) -
Wu Q.
Publication year - 2018
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1002/uog.19658
Subject(s) - medicine , cyst , choledochal cysts , prenatal diagnosis , fetus , ultrasound , obstetrics , ovarian cyst , obstetrics and gynaecology , gene duplication , pregnancy , radiology , biochemistry , genetics , chemistry , biology , gene
Objectives: Chromosomal microarray analysis (CMA) is the modality of choice for prenatal diagnosis when fetal malformations are found. Microdeletion/microduplication syndromes diagnosed by CMA contribute to the diagnostic rate, beyond that of chromosomal analysis, by 3-8%. However, the CMA platform can also provide diagnoses of monogenic diseases, imprinting disorders and uniparental disomy (UPD). Methods: Three unrelated expectant couples underwent amniocentesis for varying reasons: IUGR, very abnormal maternal serum analytes, and patient’s request. Fetal genomic DNA was extracted from amniocytes and high resolution CMA analysis was performed using Affymetrix CytoScan array. Results: CMA analysis revealed a microdeletion of 75kbp encompassing the BLM gene in the IUGR fetus. Further investigation established a fetal diagnosis of Bloom syndrome upon observation of maternal deletion of one allele of the gene and paternal founder Ashkenazi mutation on the other fetal allele. A 14q32.2q32.31deletion encompassing 3.4-Mbp was found in the fetus referred following a finding of abnormal maternal serum analytes. Further SNP analysis indicated that the deleted segment originated from the maternal copy of chromosome 14, leading to the diagnosis of Kagami Ogata syndrome, an imprinting disorder. The figure shows the dysplastic corpus callosum, placentomegaly, DV agenesis draining to IVC, and CMA results of this case. The third fetal CMA, performed at parental request, revealed maternal UPD of most of chromosome 11q without any clear clinical significance. Conclusions: Comprehensive CMA analysis including both platforms of oligo and SNP array may establish the diagnosis of a spectrum of disorders that is much broader than copy number variations.