Prenatal diagnosis of Kleefstra syndrome

Abstract

Abstract Objectives To describe the prenatal diagnosis of Kleefstra syndrome (KS), a rare panethnic disorder characterized by mental and developmental delays, distinct facial features, congenital heart and urogenital defects, among others. KS is caused by haploinsusufficiency and loss of function of euchromatin histone methyltransferase 1 (EHMT1) due to deletions or mutations in the chromosomal region 9q34.3. Case presentation The prenatal diagnosis of KS in this case report includes the description of subtle fetal phenotypic abnormalities detected by the fetal ultrasound examination as well as the results of the amniotic fluid microarray analysis that confirmed a fetal denovo deletion in the chromosomal region 9q34.3. These results confirmed the prenatal diagnosis of KS. Conclusions This case is noteworthy because of the late development of very subtle ultrasound abnormalities that triggered prenatal diagnostic studies in amniotic fluid cells, including SNP microarray analysis, that defined the diagnosis of KS. It allowed us to obtain the necessary antepartum consultations with neonatology, other pediatric subspecialties and arrange for the patient’s appropriate place of delivery to optimize the fetal and neonatal outcome.