2 research outputs found
Phenotype to genotype characterization by array-comparative genomic hydridization (a-CGH) in case of fetal malformations: AÂ systematic review
The aim of the current review is to report a-CGH abnormalities identified in fetuses with prenatally diagnosed fetal malformations in whom a normal karyotype was diagnosed with conventional cytogenetic analysis.A systematic electronic search of databases (PubMed/Medline, EMBASE/SCOPUS) has been conducted from inception to May, 2017. Bibliographic analysis has been performed according to PRISMA statement for review. The following keywords were used: âarray-CGHâ and âfetal malformationsâ and âprenatal diagnosisâ; alternatively, âmicroarrayâ, âoligonucleotide arrayâ, âmolecular biologyâ, âantenatal diagnosticsâ, âfetal diagnosticsâ, âcongenital malformationsâ and âultrasoundâ were used to capture both âa-CGHâ and âprenatalâ.One-hundred and twelve fetuses with prenatally diagnosed fetal malformations with normal karyotyping and a-CGH abnormalities detected are described. Single or multiple microarray abnormalities diagnosed have been classified in relation to different organ/system affected. The most frequent a-CGH abnormalities were detected in cases of congenital heart diseases (CDHs), multiple malformations and central nervous system (CNS) malformations. Maternal or paternal carrier-state was seen in 19.64% (22/112), of cases while the number of reported de novo mutations accounted for 46.42% (52/112) of all CNVs microarray abnormalities. Array-comparative genomic hydridization (a-CGH) may become an integral and complemantary genetic testing when fetal malformations are detected prenatally in fetuses with normal cytogenetic karyotype. In addition, a-CGH enables the identification of CNVs and VOUS and improves the calculation of recurrent risk and the genetic counseling. Keywords: Array-CGH, Fetal malformations, Molecular genetics, Prenatal diagnosis, Ultrasoun