Ultrasound diagnosis of central nervous system anomalies (bifid choroid plexus, ventriculomegaly, Dandy-Walker malformation) associated with multicystic dysplastic kidney disease in a trisomy 9 fetus: case report with literature review.

• 影响指数: 0.869
• 发表时间: Sep 2013
• 来源期刊: J Clin Ultrasound
• DOI: 10.1002/jcu.21999
• PMID: 23055272
• 文章类型: Case Reports
• 中科院分区: Q4
• 方向: 医学
• 作者列表: Tonni G,Grisolia G

关键词: Dandy-Walker malformation (DWM); bifid choroid plexus; multicystic dysplastic kidney disease; prenatal ultrasound; trisomy 9

Mesh: Abnormalities, Multiple / diagnostic imaging genetics; Abortion, Eugenic; Adult; Choroid Plexus / abnormalities diagnostic imaging; Chromosomes, Human, Pair 9 / genetics; Dandy-Walker Syndrome / diagnostic imaging genetics; Female; Genetic Testing; Humans; Hydrocephalus / diagnostic imaging genetics; Imaging, Three-Dimensional; Multicystic Dysplastic Kidney / diagnostic imaging genetics; Pregnancy; Trisomy / diagnosis genetics; Ultrasonography, Prenatal

Abstract

Trisomy 9 is a lethal chromosomal abnormality that rarely progresses beyond the second trimester of pregnancy. Multiple central nervous system anomalies, including bifid choroid plexus, ventriculomegaly, and Dandy-Walker malformation, associated with multicystic dysplastic kidney disease in a trisomy 9 fetus are reported. The prenatal ultrasound diagnosis has been aided by novel three-dimensional ultrasound software.