Prenatal Diagnosis of the Wolf-Hirschhorn Syndrome with Increased Nuchal Translucency and Negative Serum Integrated Screening for Trisomy 21

The Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome associated with a hemizygous deletion of chromosome 4p16.3. It is characterized by pre- and postnatal growth restriction, microcephaly, profound learning disability and seizure disorder, a ‘Greek helmet’ facies, and closure defects (cleft lip or palate, coloboma of the eye and cardiac septal defects). Prenatal diagnosis of the WHS (deletion 4p syndrome) has been established after karyotyping mainly for intrauterine growth restriction often with hypospadias, facial clefting and diaphragmatic hernia. Here we report the prenatal diagnosis of WHS at 19 weeks with increased nuchal translucency at 12 weeks, but a favourable integrated screening test due to low levels of B-human chorionic gonadotrophin (hCG). Low levels of hCG have been previously reported in Wolf-Hirschhorn syndrome.