[Prenatal diagnosis and management of fetal megacystis].

[megacystis-microcolon-intestinal hypoperistalsis syndrome]

Prenatal diagnosis of fetal megacystis particularly in the first trimester requires assessement of pronostic and aetiologycal criteria .Report a new case .we report a case of severe megacystis in female fetus diagnosed at 23 weeks of gestation . There are no other associated ultrasound findings . Fetal karyotyping was normal (46 XX ). Termination of pregnancy for medical indications was realised because of progressive enlargement of the fetal bladder . Post-mortem examination shown megacystis-microcolon -intestinal hypoperistalsis syndrome .Fetal megacystis is a severe condition when diagnosed early in pregnancy . Ultrasonography follow-up and fetal karyotyping are important to evaluate prognosis .

Diseases
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Diseases presenting "prenatal diagnosis" symptom

22q11.2 deletion syndrome

achondroplasia

adrenomyeloneuropathy

alexander disease

alpha-thalassemia

aromatase deficiency

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

classical phenylketonuria

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cystinuria

dentinogenesis imperfecta

epidermolysis bullosa simplex

harlequin ichthyosis

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

junctional epidermolysis bullosa

kindler syndrome

krabbe disease

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

neonatal adrenoleukodystrophy

oculocutaneous albinism

omenn syndrome

phenylketonuria

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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