Ingrid Witters

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.

Pericardial effusion in the first trimester of pregnancy

Ingrid Witters1,2,6*, Derize Boshoff3, Luc De Catte4, Tinne Mesens2, Wilfried Gyselaers2, Claire Theyskens2, Els Bruneel2, Marc Gewillig5 and Jean-Pierre Fryns1 1Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium 2Department of Obstetrics and Gynecology, St-Jans Hospital, Genk, Belgium 3Department of Pediatric Cardiology, St-Jans Hospital, Genk, Belgium 4Department of Obstetrics and Gynecology, Catholic University of Leuven, Leuven, Belgium 5Department of Pediatrics, Catholic University of Leuven, Leuven, Belgium 6GROW School of Oncology and Developmental Biology, Maastricht University Medical Centre, Leuven, Belgium

Prenatal diagnosis of 4p deletion with aortic valve stenosis

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.

Author's response to the letter by Ogawa et al.

We read with interest the correspondence by Ogawa et al. ‘Is pericardiocentesis needed for preventing hypoplastic lung in cases with massive pericardial effusion?’ (Ogawa et al., 2011). We would like to comment on the statement that a section in the article on precautions needed to be taken in isolated pericardial effusions might be wrong. At first, our case was a very early massive pericardial effusion at 11 weeks with preterm prelabor rupture of membranes and oligohydramnios at 17 weeks. In this case, as stated in the article, the likelihood of pulmonary hypoplasia is high in the persistence of oligohydramnios throughout pregnancy. The reason for intervention was at first the oligohydramnios (amnioinfusion and amniopatch) combined with pericardiocentesis (Witters et al., 2011). It is true that isolated pericardial effusions can resolve spontaneously in utero and that there is no consensus that pericardiocentesis is recommended in large persistent effusions without signs of cardiac failure. Other articles also mention the concern of pulmonary hypoplasia after continuous pressure caused by massive effusions (Carrard et al., 2010), but as stated in our article, in our case, survival was good although the pericardial effusion remained present. In their correspondence, Ogawa et al. refer to the article by Sharland and Lockhart (1995) on outcome in 35 cases with pericardial effusions. They state that the outcome was good for isolated pericardial effusions, and they further commented that Sharland and Lockhart reported not a single case of pulmonary hypoplasia. However, in this article, more than 50% of the 35 cases had only small pericardial effusions (2–4 mm), not to be compared with the massive effusions observed in our case. Moreover, their cases with massive effusions were also all drained in utero. As such, spontaneous evolution with the absence of pulmonary hypoplasia cannot be considered in these cases. In conclusion, more reports are needed regarding the spontaneous evolution of massive pericardial effusions, without pericardiocentesis, before drawing conclusions on the generally good outcome in cases of fluid persistence.