Balkan Journal of Medical Genetics

CONGENITAL HYDROCEPHALUS AND HEMIVERTEBRAE ASSOCIATED WITH DE NOVO PARTIAL MONOSOMY 6q (6q25.3→qter)
Li Y, Choy K-W, Xie H-N, Chen M, He W-Y, Gong Y-F, Liu H-Y, Song Y-Q, Xian Y-X, Sun X-F, Chen X-J,
*Corresponding Author: Xin-Jie Chen, Ph.D., Key Laboratory of Reproductive Medicine of Guangdong Province, Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Duobao Road 63, Guangzhou, 510150, Guangdong, People’s Republic of China. Tel: +86-20-81292292. Fax: +86-20-81292013. E-mail: lucychen23@aliyun.com
page: 77

MATERIALS AND METHODS

A 30-year-old gravida 5 para 0 woman was referred at 24 weeks’ gestation for a routine prenatal examination in the middle trimester of pregnancy. She had experienced four first-trimester spontaneous miscarriages for no known reason. The pregnancy was unremarkable. Both the gravida and her husband were in good health. The ultrasonographic anatomical scan of the fetus identified a single live fetus with hydrocephalus of the bilateral ventricles and lumbar hemivertebrae at L3 (Figure 1A and 1B). Though Figure 1A seems likely to be considered as the holoprosencephaly, we can identify an intact falx cerebri, distinct and separate ventricles, and cannot find the absence of the midline echo and fusion of the thalami that is a feature of holoprosencephaly from the sonogram of this fetus. Thus, this is a typical hydrocephalus. No other abnormalities were detected in the ultrasound screening. Screening for fetal Down syndrome with maternal serum demonstrated a low risk. The couple was counseled about the genetic risk and elected to undergo amniocentesis for molecular cytogenetics diagnosis. Genomic DNA was extracted from uncultured am-niotic fluid (AF) and parental peripheral blood using the DNeasy Blood & Tissue Kit (Qiagen GmbH, Hilden, Germany). Genomic copy-number variants (CNVs) were detected using Fetal DNA Chip (Agilent Technologies, Inc., Santa Clara, CA, USA), a targeted high-resolution 44K oligonucleotide array speciﬁcally constructed for prenatal screening with the intention of targeting common trisomic aneuploidies and most known microdeletion and micro-duplication syndromes. The Fetal DNA Chip included telomeric and pericentromeric regions, covering the genome at a resolution of 100 kb (http://www.fetalmedi cine.hk/en/Fetal DNA Chip.asp). This chip is specifically designed to evaluate over 100 known genomic disorders in the fetus (http://www.fetalmedicine.hk/en/Fetal DNA chip/ Appendix I.pdf) with most of the known common non pathogenic CNV regions removed. The quality of the array was analyzed using DNA Analytics software version 4.0.81 (Agilent Technologies), and cases where the derivative log ratio spread of the array was >0.25 were excluded from further data analysis. Any CNVs that were detected in our cohort were then checked with the Database of Genomic Variants to exclude known non pathogenic chromosome CNVs [11]. The coordinates of CNVs detected in the specimens are based on the Human February 2009 (hg19) assembly of the International Human Genome Sequencing Consortium. We searched for similar CNVs in the DGV (Database of Genomic Variants: http:// projects.tcag.ca/variation/cgi-bin/gbrowse/hg19), DECIPHER (https://decipher.sanger. ac.uk), ISCA (https://www.iscaconsortium.org/isca/ucsc/ hg19), OMIM (http://omim.org) and PubMed (http://www. ncbi.nlm. nih.gov/pmc/) to determine if the CNVs were pathogenic and to investigate the relationship between the CNVs and clinical characteristics. Genomic copy number variations detected by array-based comparative genomic hybridization (aCGH) were confirmed by conventional karyotyping analysis and fluorescence in situ hybridization (FISH). G-banding chromosome analysis at a 500- band resolution was performed on the cultured amniocytes and parental peripheral blood lymphocytes following the laboratory’s standard protocols. Thirty metaphases were analyzed. The FISH analysis was performed on cultured amniocytes and lymphocyte metaphase preparations using Rp11-196G15 (Empire Genomics, Buffalo, NY, USA) for the 6p22.3 area (spectrum red) and Rp11-37D8 (spectrum green) for the 6q27 deletion area, according to the standard FISH protocol.

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