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 article

Abstract

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
Volume58
Issue number1
DOIs
Publication statusPublished - Jan 1 2019
Externally publishedYes

Fingerprint

Fetus
Genotype
Phenotype
Karyotype
Nervous System Malformations
Multiple Abnormalities
Carrier State
Karyotyping
Cytogenetic Analysis
Genetic Counseling
Genetic Testing
Oligonucleotide Array Sequence Analysis
Prenatal Diagnosis
PubMed
Cytogenetics
Molecular Biology
Heart Diseases
Central Nervous System
Mothers
Databases

Keywords

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

ASJC Scopus subject areas

  • Obstetrics and Gynaecology

Cite this

Tonni, G., Palmisano, M., Perez Zamarian, A. C., Rabachini Caetano, A. C., Santana, E. F. M., Peixoto, A. B., ... Araujo Júnior, E. (2019). Phenotype to genotype characterization by array-comparative genomic hydridization (a-CGH) in case of fetal malformations: A systematic review. Taiwanese Journal of Obstetrics and Gynecology, 58(1), 15-28. https://doi.org/10.1016/j.tjog.2018.11.003

Phenotype to genotype characterization by array-comparative genomic hydridization (a-CGH) in case of fetal malformations : A systematic review. / Tonni, Gabriele; Palmisano, Marcella; Perez Zamarian, Ana Cristina; Rabachini Caetano, Ana Carolina; Santana, Eduardo Félix Martins; Peixoto, Alberto Borges; Armbruster-Moraes, Edecio; Ruano, Rodrigo; Araujo Júnior, Edward.

In: Taiwanese Journal of Obstetrics and Gynecology, Vol. 58, No. 1, 01.01.2019, p. 15-28.

Research output: Contribution to journalReview article

Tonni, G, Palmisano, M, Perez Zamarian, AC, Rabachini Caetano, AC, Santana, EFM, Peixoto, AB, Armbruster-Moraes, E, Ruano, R & Araujo Júnior, E 2019, 'Phenotype to genotype characterization by array-comparative genomic hydridization (a-CGH) in case of fetal malformations: A systematic review', Taiwanese Journal of Obstetrics and Gynecology, vol. 58, no. 1, pp. 15-28. https://doi.org/10.1016/j.tjog.2018.11.003
Tonni, Gabriele ; Palmisano, Marcella ; Perez Zamarian, Ana Cristina ; Rabachini Caetano, Ana Carolina ; Santana, Eduardo Félix Martins ; Peixoto, Alberto Borges ; Armbruster-Moraes, Edecio ; Ruano, Rodrigo ; Araujo Júnior, Edward. / Phenotype to genotype characterization by array-comparative genomic hydridization (a-CGH) in case of fetal malformations : A systematic review. In: Taiwanese Journal of Obstetrics and Gynecology. 2019 ; Vol. 58, No. 1. pp. 15-28.
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abstract = "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.",
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