ABSTRACT
Pallister-Killian Syndrome is a rare, sporadic chromosomal disorder characterized by a tetrasomy 12p often in mosaic. It is only in 2000 that the first case of PKS was diagnosed in the first trimester further to an increased nuchal translucency. Report a new case. To our knowledge, we present the first case of early prenatal diagnosis of Pallister Killian Syndrome due to the presence of an increased nuchal translucency, a diaphragmatic hernia, a typical facial dysmorphism and a micromelia of a predominantly rhizomelic type. A chorionic cells biopsy showed a normal karyotype. The diagnosis was revealed on cytogenetic analysis of amniotic fluid sampling. The main ultrasound indicators of PKS seem to be: Hydramnios, congenital diaphragmatic hernia [CDH] and a micromelia of a rhizomelic type. The hydrops fetalis, hygroma coli or increased nuchal translucency [INT], fetal overgrowth, ventriculomegaly and presence of a sacral appendix are less common. The amniocentesis with the study of the karyotype on amniotic cells is considered to be the gold standard for the diagnosis of PKS. A good morphological study during the first trimester in search of ultrasound abnormalities highly suggestive of PKS is able to direct the cytogenetic study
ABSTRACT
Prenatal diagnosis of fetal megacystis particularly in the first trimester requires assessement of pronostic and aetiotogycal criteria. Report anew case we report a case of severe megscystis in female fetus diagnosed at 23 weeks of gestation. There are no other associated ultrasound findings. Fetal karyotyping was normal [46XX]. Termination of pregnancy for medical indications was realised because of progressive enlargement of the fetal bladder. Post-mortem examination showis megacystismicrocolon-in testinal hypoperistalsis syndrome. Fetal megacystis is a severe condition when diagnosed early in pregnancy. Ultrasonography follow-up and fetal karyotyping are important to evaluate prognosis