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Chromosomal microarray testing yield in 829 cases of microcephaly: a clinical characteristics-based analysis for prenatal and postnatal cases.
Sukenik-Halevy, Rivka; Mevorach, Nir; Basel-Salmon, Lina; Matar, Reut Tomashov; Kahana, Sarit; Klein, Kochav; Agmon-Fishman, Ifaat; Levy, Michal; Maya, Idit.
Afiliação
  • Sukenik-Halevy R; Genetic Institute, Meir Medical Center, Kfar Saba, Israel. Riki.sukenik@gmail.com.
  • Mevorach N; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel. Riki.sukenik@gmail.com.
  • Basel-Salmon L; Genetic Institute, Meir Medical Center, Kfar Saba, Israel.
  • Matar RT; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.
  • Kahana S; Recanati Genetic Institute, Rabin Medical Center, Petah Tikva, Israel.
  • Klein K; Felsenstein Medical Research Center, Rabin Medical Center, Petah Tikva, Israel.
  • Agmon-Fishman I; Pediatric Genetics Unit, Schneider Children's Medical Center, Petah Tikva, Israel.
  • Levy M; Recanati Genetic Institute, Rabin Medical Center, Petah Tikva, Israel.
  • Maya I; Recanati Genetic Institute, Rabin Medical Center, Petah Tikva, Israel.
Arch Gynecol Obstet ; 310(3): 1547-1554, 2024 09.
Article em En | MEDLINE | ID: mdl-38494511
ABSTRACT

INTRODUCTION:

Microcephaly, characterized by abnormal head growth, can often serve as an initial indicator of congenital, genetic, or acquired disorders. In this study, we sought to evaluate the effectiveness of chromosomal microarray (CMA) testing in detecting abnormalities in both prenatal and postnatal cases of microcephaly. MATERIALS AND

METHODS:

CMA Testing We conducted CMA testing on 87 prenatally-detected microcephaly cases and 742 postnatal cases at a single laboratory. We evaluated the CMA yield in relation to specific clinical characteristics.

RESULTS:

In prenatal cases, pathogenic and likely pathogenic (LP) results were identified in 4.6% of cases, a significantly higher rate compared to low-risk pregnancies. The male-to-female ratio in this cohort was 3, and the CMA yield was not influenced by gender or other clinical parameters. For postnatal cases, the CMA yield was 15.0%, with a significantly higher detection rate associated with dysmorphism, hypotonia, epilepsy, congenital heart malformations (CHM), learning disabilities (LD), and a history of Fetal growth restriction (FGR). No specific recurrent copy number variations (CNVs) were observed, and the rate of variants of unknown significance was 3.9%.

CONCLUSIONS:

The yield of CMA testing in prenatal microcephaly is lower than in postnatal cases (4.6% vs. 15%). The presence of microcephaly, combined with dysmorphism, hypotonia, epilepsy, CHD, LD, and FGR, significantly increases the likelihood of an abnormal CMA result.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Análise em Microsséries / Microcefalia Limite: Adult / Female / Humans / Male / Newborn / Pregnancy Idioma: En Revista: Arch Gynecol Obstet Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Análise em Microsséries / Microcefalia Limite: Adult / Female / Humans / Male / Newborn / Pregnancy Idioma: En Revista: Arch Gynecol Obstet Ano de publicação: 2024 Tipo de documento: Article