Beckwith-Wiedemann Syndrome: Difficulties with Prenatal Diagnosis

Abstract

Beckwith-Wiedemann syndrome (BWS), though a well-delineated clinical and morphological entity, can be difficult to diagnose by prenatal ultrasound examination when incomplete forms occur. We present a case with sonographic results including hydronephrosis, cardiomegalia, hepatomegalia, macroglossia, and prominent forehead. No abdominal wall defect was detected. Karyotype was normal. In spite of intensive prenatal diagnostics, BWS could not be diagnosed definitely until birth.

Short Communication. Prenatal detection of a congenital pancreatic cyst and Beckwith–Wiedemann Syndrome

“…Numerous further signs have been occasionally described in BWS: microcephaly, facial dysmorphism, diaphragmatic hernia, cardiovascular malformations, adrenal enlargement (Nowotny et al, 1994). In our case, the striking finding was the association of omphalocoele and enlarged kidneys.…”

“…In some family cases of BWS, an autosomal dominant inheritance with variable expressivity and reduced penetrance has been suggested (Viljoen et al, 1991;Nowotny et al, 1994). Specific rearrangements involving chromosomal region 11p15 have been documented, and a mechanism of genomic imprinting is probably involved (Weksberg et al, 1993).…”

Beckwith-Wiedemann Syndrome Presenting with an Elevated Triple Screen in the Second Trimester of Pregnancy

“…Indeed, even in an era of newer sonographic technology, prenatal diagnosis of the syndrome remains a rarity [2,[4][5][6][11][12][13][14][15] . Others have suggested that in the absence of maternal diabetes, an approach to the fetus with macrosomia, polyhydramnios and an enlarged placenta should include targeted ultrasound to examine for macroglossia, visceromegaly, a disproportional increase in abdominal circumference and omphalocele [5] .…”

“…Others have suggested that in the absence of maternal diabetes, an approach to the fetus with macrosomia, polyhydramnios and an enlarged placenta should include targeted ultrasound to examine for macroglossia, visceromegaly, a disproportional increase in abdominal circumference and omphalocele [5] . However, even multiple second trimester imaging modalities will not always yield a prenatal diagnosis of BWS when it occurs in the absence of omphalocele or a detectable abnormal fetal profile [4][5][6][11][12][13][14][15] . As summarized in table 2 , few nonspecific ultrasonographic findings are associated with BWS [5] .…”

Morphogenetic Targets and Genetics of Undescended Testis

“…Cryptorchidism [Pettenati et al, 1986;Nowotny et al, 1994;Benacerraf and Bromley, 1998] and reduced fecundity [Moutou et al, 1992] are among the clinical findings described in male BWS patients. Interestingly, ZNF214 and ZNF215 are predominantly expressed in the testis [Alders et al, 2000].…”