Introduction: Chromosomal microarray analysis (CMA) allows the detection of submicroscopic chromosomal abnormalities. In recent years, its use in prenatal diagnosis has been implemented when certain ultrasound findings are detected. The purpose of this study was to analyze and describe the imbalances detected in prenatal samples collected from pregnancies followed in our center for having the indication to perform diagnosis using CMA. Material and methods: CMA performed in our center on chorionic villi and amniotic fluids during the period 2019-2023 were collected. The inclusion criteria were: normal screening of common aneuploidies and at least one of the following features: nuchal translucency higher than percentile 99, fetal abnormalities, early-onset fetal growth restriction, parents´ history of chromosomal imbalances, or cases with abnormal karyotype. When a relevant variant was detected, it was analyzed in the parents' fetus and when available, the phenotype of the children borned was collected. Results: 216 CMA studies were performed in four years. Pathogenic copy number variations (CNVs) were detected in 13 samples (6%), identifying two concurrent pathogenic alterations in one case. Isolated CNVs had OMIM numbers and corresponded to already reported syndromes. Seven variants of unknown significance (3.7%) were observed. The study of the parents showed that the majority of the variants identified had been produced de novo, except one pathogenic and five unknown CNVs that had been inherited from an apparently healthy parent. Three microduplications drew specially our attention: duplication 5q35.2 which encompassed MSX2 gene (because the reported phenotype is not consistent with what is expected for the genomic region) and duplications 1q21.1 and 16p11.2 (due to the ultrasound findings detected in fetuses had recently been postulated to be associated with these CNVs). Conclusion: The phenotype of CNVs identified in prenatal samples is highly variable prenatally, like postnatally. Some findings may be part of the syndromes to which they give rise and some phenotypes may be pending to define. Further studies are needed to better define these variants and to understand how haploinsufficiency or over-expression of genes included in these regions can cause such complex phenotypes.

Pilar Carrasco Salas

Reyes Granell Escobar

Ana Serrano Mira

Angustias Pérez Saldaña

Marta Cosculluela Vidal

Carlos Garrido

Ignacio Vázquez Rico

Molecular Syndromology

《分子综合征》发表关于常见和罕见遗传综合征的高质量研究文章、简短报告和评论，旨在通过分子见解增加临床理解。特别感兴趣的主题是遗传综合征的分子基础、基因型-表型相关性、自然史、疾病管理策略和基于分子发现的新治疗方法。对模型系统的研究也受到欢迎，特别是当它明显与人类遗传学相关时。通过对当前主题的高质量评论，该杂志旨在促进将研究结果转化为临床环境，同时促进对临床相关问题的进一步研究。该杂志不仅针对医学遗传学家和基础生物医学研究人员，还针对处理遗传综合征的临床医生。该杂志拥有来自三大洲的四位副主编和一个广泛的国际编辑委员会，欢迎投稿，涵盖来自世界各地的最新研究。

The journal "Molecular Syndromology" publishes high-quality research articles, brief reports, and reviews on common and rare genetic syndromes, aiming to enhance clinical understanding through molecular insights. Topics of particular interest include the molecular basis of genetic syndromes, genotype-phenotype correlations, natural history, disease management strategies, and new therapeutic approaches based on molecular discoveries. Research on model systems is also welcomed, especially when it is significantly related to human genetics. Through high-quality reviews on current topics, the journal aims to facilitate the translation of research findings into clinical settings while promoting further investigation into clinically relevant issues. The journal is not only targeted at medical geneticists and basic biomedical researchers but also welcomes submissions from clinicians dealing with genetic syndromes. It boasts four deputy editors from three continents and a broad international editorial board, inviting submissions of the latest research from around the world.

《Molecular Syndromology》期刊发表关于常见和罕见遗传综合征的高质量研究文章、简短报告和评论，旨在通过分子视角增强临床理解。特别关注的主题包括遗传综合征的分子基础、基因型-表型相关性、自然史、疾病管理策略以及基于分子发现的新治疗方法。对模型系统的研究也受到欢迎，尤其是那些与人类遗传学显著相关的研究。通过对当前主题的高质量评论，该杂志旨在促进研究成果向临床实践的转化，同时推动对临床相关问题的进一步研究。该杂志不仅面向医学遗传学家和基础生物医学研究人员，也欢迎处理遗传综合征的临床医生投稿。期刊拥有来自三大洲的四位副主编和一个广泛的国际编辑委员会，欢迎来自全球的最新研究投稿。

Category	Quartile
医学	4
医学, 遗传学	4

Findings in chromosomal microarray analysis during prenatal diagnosis in high-risk individuals

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Category	Quartile
GENETICS & HEREDITY	4