Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus

被引：35

作者：

Etchegaray, Adolfo ^{[1
]}

Juarez-Penalva, Sofia ^{[1
]}

Petracchi, Florencia ^{[2
]}

Igarzabal, Laura ^{[2
]}

机构：

[1] Hosp Univ Austral, Unidad Med Fetal, Pilar, Buenos Aires, Argentina

[2] CEMIC, Serv Genet, Buenos Aires, DF, Argentina

来源：

CHILDS NERVOUS SYSTEM | 2020年 / 36卷 / 08期

关键词：

Fetal ventriculomegaly; Congenital hydrocephalus; Prenatal diagnosis; Prenatal genetic testing; DIGITAL SYNDROME TYPE-1; MECKEL-GRUBER-SYNDROME; COPY NUMBER VARIATIONS; JOUBERT SYNDROME; NOONAN SYNDROME; DOWN-SYNDROME; CHROMOSOMAL MICROARRAY; PHENOTYPE CORRELATIONS; NATURAL-HISTORY; APERT SYNDROME;

D O I：

10.1007/s00381-020-04526-5

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Background Fetal ventriculomegaly (VM) is a frequent finding in prenatal ultrasound. Rather than a proper diagnosis, VM is a sonographic sign, making prenatal counseling a complex and challenging undertaking. VM can range from severe pathologic processes leading to severe neurodevelopmental delay to normal variants. Discussion A growing number of genetic conditions with different pathophysiological mechanisms, inheritance patterns, and long-term prognosis have been associated both to isolated and complex fetal VM. These include chromosomal abnormalities, copy number variants, and several single gene diseases. In this review, we describe some of the most common genetic conditions associated with fetal VM and provide a simplified diagnostic workflow for the clinician.

引用

页码：1645 / 1660

页数：16

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