Dandy-Walker Malformation in a Fetus with Pentasomy X (49, XXXXX) Prenatally Diagnosed by Fluorescence in situ Hybridization Technique

Abstract

We present the case of a pentasomy X (49, XXXXX) prenatally diagnosed. The fluorescent in situ hybridization technique assisted in making the diagnosis. The problems identified in this fetus include a Dandy-Walker malformation, hydrocephaly, ventricular septal defect, hypertelorism and polyhydramnios.

A case of penta X syndrome caused by nondisjunction in maternal meiosis 1 and 2

“…As illustrated in our case and in accordance with previously reported cases , prenatal diagnosis of penta X syndrome remains a challenge. Prenatal abnormalities are generally detected late in the pregnancy and are nonspecific.…”

X Pentasomy in an Intracytoplasmic Sperm Injection Pregnancy Detected by Nuchal Translucency Testing

“…On ultrasonography, growth retardation and bilateral radio-ulnar synostosis were found. In the second case [10] , X pentasomy was predicted by FISH applied to uncultured amniocytes obtained at 33 weeks of gestation. Ultrasound findings included Dandy-Walker malformation, hydrocephaly, ventricular septal defect, hypertelorism, and polyhydramnios.…”

Transient hydrops fetalis in a prenatally diagnosed pentasomy X?

“…The first case had growth restriction and radio‐ulnar synostosis determined on ultrasonographic examination 5 . The second case was diagnosed at 33 weeks' gestation, and had Dandy–Walker malformation, hydrocephaly, a ventricular septal defect, hypertelorism and polyhydramnios 6 . The third case was diagnosed by increased nuchal translucency at 11 weeks' gestation after chorionic villous sampling 2 .…”

“…5 The second case was diagnosed at 33 weeks' gestation, and had Dandy-Walker malformation, hydrocephaly, a ventricular septal defect, hypertelorism and polyhydramnios. 6 The third case was diagnosed by increased nuchal translucency at 11 weeks' gestation after chorionic villous sampling. 2 Our case stands as the forth pentasomy X case reported in the literature and the second one to be detected in the second trimester.…”