Antenatal sonographic appearance of Beckwith–Wiedemann syndrome

Perlman syndrome—a cause of enlarged, hyperechogenic kidneys

“…The prenatal sonographic features of Beckwith-Wiedemann syndrome have been described (Weinstein and Anderson, 1980;Shapiro et al, 1982;Koontz et al, 1986;Winter et al, 1986;Cobellis et al, 1988). In all cases, polyhydramnios was reported in association with bilateral enlarged echogenic kidneys.…”

Prenatal diagnosis of Beckwith–Wiedemann syndrome

“…While the majority of cases of BWS are diagnosed after birth on the basis of physical exam findings, fewer than 20 cases in the literature were diagnosed prenatally (Weinstein and Anderson, 1980;Shapiro et al, 1982;Nivelon-Chevallier et al, 1983;Grundy et al, 1985;Koontz et al, 1986;Winter et al, 1986;Cobellis et al, 1988;Lodeiro et al, 1989;Meizner et al, 1989;Wieacker et al, 1989;Shah and Metlay, 1990;Viljoen et al, 1991;Hewitt and Bankier, 1994;Nowotny et al, 1994;Whisson et al, 1994;Harker et al, 1997;Ranzini et al, 1997;Fert-Ferrer et al, 2000;Hamada et al, 2001). However, prenatal identification and diagnosis have become increasingly important in pregnancy counseling-in light of the burden of increased malignancy risk, large size, and the unusual phenotype; determining proper mode of delivery; managing potentially fatal neonatal issues, including airway obstruction, respiratory distress, hypoglycemia, and congestive heart failure (mortality as high as 21% (Pettenati et al, 1986)); and in counseling and testing family members.…”

“…The characteristic visceromegaly of BWS makes this condition amenable to prenatal diagnosis with ultrasonography. The importance of prenatal diagnosis lies primarily in ruling out other, more serious causes of renal enlargement and insuring that infants are born in settings capable of providing proper management of their often prolonged, severe hypoglycemia and the respiratory difficulties that may be associated with macroglossia (Koontz et al, 1986).…”

“…Features most useful in making the prenatal diagnosis appear to be positive family history, polyhydramnios, omphalocele, and visceromegaly (Koontz et al, 1986;Lodeiro et al, 1989;Wieacker et al, 1989;Viljoen et al, 1991;Whisson et al, 1994). Placental volume studies may also aid in the diagnosis; however, there certainly are times when the diagnosis is not obvious, even at birth (Shapiro et al, 1982).…”

Sonographic appearance of placental villous hydrops associated with Beckwith-Wiedemann syndrome.

“…These include omphalocele, macro-J Ultrasound Med 14:61-64, 1995 Figure 2 Longitudinal view of the placenta shows mild thickening (3 em), and numerous anechoic spaces that corresponded to hydropic stem villi on pathologic examination. glossia, enlarged kidneys, adrenal cysts, hepatosplenomegaly, omphalocele with maintenance of a normal abdominal circumference, and growth parameters (biparietal diameter, head circumference, abdominal circumference) all above the 90th percentile.l.2.4,9,10 Polyhydramnios also may accompany the Beckwith-Wiedemann syndrome.l.J-5, 9,10 In addition to anomalous fetal morphology, placental abnormalities also occur in some cases of BWS. If recognized antenatally, these placental changes may increase the likelihood of diagnosing BWS.…”