TY - JOUR
T1 - Phenotype to genotype characterization by array-comparative genomic hydridization (a-CGH) in case of fetal malformations
T2 - A systematic review
AU - Tonni, Gabriele
AU - Palmisano, Marcella
AU - Perez Zamarian, Ana Cristina
AU - Rabachini Caetano, Ana Carolina
AU - Santana, Eduardo Félix Martins
AU - Peixoto, Alberto Borges
AU - Armbruster-Moraes, Edecio
AU - Ruano, Rodrigo
AU - Araujo Júnior, Edward
N1 - Publisher Copyright:
© 2018
PY - 2019/1
Y1 - 2019/1
N2 - 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.
AB - 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.
KW - Array-CGH
KW - Fetal malformations
KW - Molecular genetics
KW - Prenatal diagnosis
KW - Ultrasound
UR - http://www.scopus.com/inward/record.url?scp=85058167905&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85058167905&partnerID=8YFLogxK
U2 - 10.1016/j.tjog.2018.11.003
DO - 10.1016/j.tjog.2018.11.003
M3 - Review article
C2 - 30638470
AN - SCOPUS:85058167905
SN - 1028-4559
VL - 58
SP - 15
EP - 28
JO - Taiwanese Journal of Obstetrics and Gynecology
JF - Taiwanese Journal of Obstetrics and Gynecology
IS - 1
ER -