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.
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.
Prenatal Diagnostic Service, Guastalla Civil Hospital, Department of Obstetrics and Gynecology, Via Donatori Sangue, 2 Guastalla, Reggio Emilia, Italy.
Gabriele
G
Tonni
Giampaolo
G
Grisolia
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D000025:Abortion, Eugenic; D000328:Adult; D002831:Choroid Plexus / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D003616:Dandy-Walker Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging* / Q000235:genetics; D021621:Imaging, Three-Dimensional; D021782:Multicystic Dysplastic Kidney / Q000000981:diagnostic imaging* / Q000235:genetics; D011247:Pregnancy; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics; D016216:Ultrasonography, Prenatal