Second-Trimester Diagnosis of Fetal Cataract in a Fetus with Walker-Warburg Syndrome

Abstract

We report on the prenatal diagnosis of bilateral fetal cataract in the 17th week of pregnancy as the first ultrasonographic sign of a Walker-Warburg syndrome in a familial case. No other anomalies could be detected by ultrasonographic examination at that time. Both the bilateral fetal cataract and specific abnormalities of a Walker-Warburg syndrome were confirmed after the termination of the pregnancy in the second trimester.

Prenatal ultrasound detection of congenital cataract in trisomy 21

“…By contrast, intense hyperechogenicity of the opacified lens is amenable to diagnosis if a detailed examination of eyeball is performed. In this way, it has already been described among fetuses from 14 to 27 weeks of gestational age in multiple malformation complex (Zimmer et al, 1993) recurrence of Walker-Warburg syndrome (Beinder et al, 1997) and at 19 weeks in cases with a positive family history (Gaary et al, 1993;Drysdale et al, 1997). Although congenital cataract (CC) is a rare ophthalmological complication of Down syndrome, it usually occurs later in life (da Cunha and Moreira, 1996).…”

Early sonographic detection of recurrent fetal eye anomalies

“…The prenatal diagnosis of fetal orbital or eye anomalies, such as cyclopia, microphthalmia, cataract and anophthalmia, has been described7–20. Some of these abnormalities may be part of congenital syndromes, such as trisomy 13, trisomy 21, Walker–Warburg syndrome, Fraser‐cryptophthalmos syndrome, or a brain anomaly, such as holoprosencephaly12, 15, 17, 21–25. We describe five cases of early transvaginal sonographic diagnosis of a fetal eye anomaly.…”

Difficulties with prenatal diagnosis of the walker-warburg syndrome

“…Overall, antenatal US remains limited for evaluation of the posterior fossa (14) due to the compact Table 2. Earliest gestational age brain/eye abnormalities associated with WWS are seen on antenatal US, and frequency of abnormality on antenatal US compared to postnatal or autopsy findings Brain/eye abnormality Earliest time antenatal US finding was reported 3,[5][6][7]9,10,12,[16][17][18][19][22][23][24] (in GA weeks)…”

“…Frequency of antenatal US finding 3,[5][6][7]9,10,12,[16][17][18][19][22][23][24] Frequency of postnatal or autopsy finding 8 anatomy, limited acoustic window, and calvarial ossification, especially in the 3rd trimester, although the transvaginal route may again be advantageous.…”