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
Prenatal Diagnostic Service, Department of Obstetrics and Gynecology, Istituto di Ricerca a Carattere Clinico Scientifico (IRCCS) AUSL Reggio Emilia, Italy.
Prenatal Diagnostic Service, Department of Obstetrics and Gynecology, Istituto di Ricerca a Carattere Clinico Scientifico (IRCCS) AUSL Reggio Emilia, Italy.
Taiwan J Obstet Gynecol. 2019 Jan;58(1):15-28. doi: 10.1016/j.tjog.2018.11.003.
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.
本综述的目的是报告在产前诊断为胎儿畸形且常规细胞遗传学分析诊断为核型正常的胎儿中发现的a-CGH异常情况。从数据库建立到2017年5月，对数据库（PubMed/Medline、EMBASE/SCOPUS）进行了系统的电子检索。已根据PRISMA声明进行文献分析以撰写综述。使用了以下关键词：“阵列比较基因组杂交（array-CGH）”、“胎儿畸形”和“产前诊断”；或者使用“微阵列”、“寡核苷酸阵列”、“分子生物学”、“产前诊断”、“胎儿诊断”、“先天性畸形”和“超声”来涵盖“a-CGH”和“产前”这两个方面。描述了112例产前诊断为胎儿畸形且核型正常但检测到a-CGH异常的胎儿。已根据受影响的不同器官/系统对诊断出的单发性或多发性微阵列异常进行了分类。在先天性心脏病（CHD）、多发性畸形和中枢神经系统（CNS）畸形病例中检测到最常见的a-CGH异常。19.64%（22/112）的病例中发现了母源或父源携带状态，而报告的新发突变数量占所有CNV微阵列异常的46.42%（52/112）。当在核型正常的胎儿中产前检测到胎儿畸形时，阵列比较基因组杂交（a-CGH）可能会成为一种不可或缺的补充性基因检测方法。此外，a-CGH能够识别CNV和意义不明的变异（VOUS），并改善复发风险的计算和遗传咨询。
