Phenotype to genotype characterization by array-comparative genomic hydridization (a-CGH) in case of fetal malformations: A systematic review

Gabriele Tonni, Marcella Palmisano, Ana Cristina Perez Zamarian, Ana Carolina Rabachini Caetano, Eduardo Félix Martins Santana, Alberto Borges Peixoto, Edecio Armbruster-Moraes, Rodrigo Ruano, Edward Araujo Júnior

Research output: Contribution to journalReview articlepeer-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: ‘array-CGH’ and ‘fetal malformations” and “prenatal diagnosis”; alternatively, “microarray” “oligonucleotide array” “molecular biology” “antenatal diagnostics” “fetal diagnostics” “congenital malformations” and “ultrasound” were used to capture both “a-CGH” and “prenatal”. 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.

Original languageEnglish
Pages (from-to)15-28
Number of pages14
JournalTaiwanese Journal of Obstetrics and Gynecology
Issue number1
Publication statusPublished - Jan 1 2019
Externally publishedYes


  • Array-CGH
  • Fetal malformations
  • Molecular genetics
  • Prenatal diagnosis
  • Ultrasound

ASJC Scopus subject areas

  • Obstetrics and Gynaecology


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