Correlation between mild fetal ventriculomegaly, chromosomal abnormalities, and copy number variations
| Autor: | Hong Pan, Rui-Na Huang, Junya Chen, Qian-Qi Liu |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Nervous system
Pathology medicine.medical_specialty DNA Copy Number Variations endocrine system diseases Nervous System Malformations Mild fetal ventriculomegaly Ultrasonography Prenatal Correlation 03 medical and health sciences 0302 clinical medicine Pregnancy Prenatal Diagnosis mental disorders medicine Humans 030212 general & internal medicine Copy-number variation Retrospective Studies Chromosome Aberrations Fetus 030219 obstetrics & reproductive medicine business.industry Incidence (epidemiology) Obstetrics and Gynecology Microarray Analysis medicine.disease medicine.anatomical_structure Karyotyping embryonic structures Pediatrics Perinatology and Child Health Female Abnormality business Hydrocephalus Ventriculomegaly |
| Zdroj: | The Journal of Maternal-Fetal & Neonatal Medicine. 35:4788-4796 |
| ISSN: | 1476-4954 1476-7058 |
| DOI: | 10.1080/14767058.2020.1863941 |
| Popis: | Lateral ventriculomegaly is the most common abnormality of the fetal nervous system. This study investigated the incidence of chromosomal abnormalities and copy number variations (CNVs) in fetuses with mild ventriculomegaly (MV) based on various ultrasonic manifestations, identifying their corresponding features via ultrasound examination.A retrospective analysis was performed on ultrasound and neurosonogram (NSG) manifestations and genetic profiles of 334 cases with MV and invasive prenatal diagnosis.Three hundred thirty-four cases with fetal MV were assessed via karyotyping. Further chromosomal microarray analysis (CMA) was performed in 182 cases with normal chromosome karyotypes; pathogenic chromosomal copy number variations (CNVs) were found in eight cases with a prevalence of 4.4% (8/182). In this study, the incidence rate of pathogenic abnormalities of chromosomes and CNVs was 5.7% (19/334). Based on whether lateral ventriculomegaly was complicated with other ultrasonic features, the 334 patients were divided into two groups: (1) 175 cases exhibited isolated ventriculomegaly (IVM; 52.4%, 175/334 group A) including two (1.1%, 2/175) with pathogenic chromosomal karyotype abnormalities-both trisomy 21; (2) 159 cases exhibited non-isolated ventriculomegaly (N-IVM; 47.6%, 159/334) with pathogenic chromosomal abnormalities and CNVs detected in17 cases (10.7%, 17/159). The N-IVM group was further divided into two groups: 105 cases exhibited MV with undetermined ultrasonic abnormalities (31.4%, 105/334, group B) with pathogenic chromosomal abnormalities and CNVs detected in eight cases (7.6%, 8/105); 54 cases exhibited MV with structural malformations (16.2%, 54/334, group C) of which nine cases (16.7%, 9/54) presented both pathogenic chromosomal abnormalities and CNVs, and five cases (55.6%, 5/9) were diagnosed with various cortical malformations. The pathogenicity rates of the IVM and N-IVM groups were statistically different (Combinations of various ultrasonic abnormalities significantly affect the risk of pathogenic chromosomal abnormalities and CNVs in fetuses with MV. Cases involving cortical malformations require particular attention to the occurrence of pathogenic genetic abnormalities. When fetal MV is detected, a comprehensive ultrasound examination focusing on undetermined ultrasonic abnormalities is critical. Fetal NSG should be conducted to detect potential cerebral cortical malformation easily missed by routine ultrasound. |
| Databáze: | OpenAIRE |
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