Prenatal diagnosis of 4p deletion with aortic valve stenosis

Abstract

Wolf-Hirschhorn syndrome (WHS) is caused by variable sized terminal deletions of the short arm of chromosome 4 (chromosomal region 4p16.3) and usually presents as severe intrauterine growth retardation with characteristic dysmorphic features (hypertelorism, a short philtrum with downturned corners of the mouth and a 'Greek warrior helmet appearance' of the face), developmental delay and epilepsy.Often WHS is only diagnosed postnatally but prenatal diagnosis has been reported in the presence of intrauterine growth retardation with facial dysmorphism, cardiac malformations (ventricular septal defect, arrhythmia) or other associated malformations (oesophageal atresia, renal hypoplasia, diaphragmatic hernia, foot deformity, choroid plexus cysts, corpus callosumagenesis, hypospadias), or in the present of a parental balanced translocation.Here we present the prenatal diagnosis of WHS based on the prenatal onset of growth delay and characteristic facial features and aortic valve stenosis.

Diagnosis of Fetal Growth Retardation and Placental Cyst during Labor

“…Analysis of cyst fluid revealed an increase in creatinine, collagen, CRP, tissue factors, Von Willebrand factor, chemokine CXCL4; reduced surfactant D, PS-positive microparticles, α-fetoprotein, β-HCG, fibrinogen, α2-macroglobulin, and haptoglobin [2]. Differential diagnoses of the placental cyst are sub-amniotic and subchorionic cyst, chorioangioma, cord cyst, and placental lakes [6]. Subchorionic cysts occur as echo-free cavities under the fetal plate, and they do not have blood flow and hence will not give a Doppler signal.…”

“…These X cells are clear cubic cells, and the remaining placenta shows increased capillaries, syncytial knots, and indented terminal villi with focal areas of avascular necrosis [2]. Subchorionic cyst are associated with previllous deposition of fibrin [6]. The majority of the placental cyst are simple cysts having internal echogenicity similar to amniotic fluid [1].…”