Fetal Emanuel syndrome: a case report

Abstract

We hereby reported the prenatal diagnosis of a case of fetal Emanuel syndrome. At 12+3 gestational weeks, ultrasound examination suggested that the fetal nuchal translucency thickness was 3.3 mm. At 24+2 gestational weeks, the fetus was found with growth restriction, lateral ventriculomegaly (14 mm), broadened posterior cranial fossa (13 mm), right multicystic dysplastic kidney and doubled left renal pelvis by ultrasound. Karyotyping of both the fetus and the parents was performed using G banding, and showed that the fetus was 47, XX, +mar, the father was normal, while the mother was 46, XX, t(11;22)(q23;q11.2). Single-nucleotide polymorphism-array of the fetal cells in amniotic fluid suggested that the fetus had a partial duplication of chromosomes 22 and 11 at 22q11.1q11.21 and 11q23.3q25 and carried a marker chromosome +der(22)t(11;22)(q23.3;q11.21), based on which the fetus was eventually diagnosed as Emanuel syndrome. The pregnancy was terminated after genetic consultation. Key words: Cleft palate; Heart defects, congenital; Intellectual disability; Muscle hypotonia; Chromosome disorders; Prenatal diagnosis