Prenatal ultrasound detection of congenital cataract in trisomy 21

Abstract

A 45‐year‐old woman underwent serial ultrasound screening procedures during late first and second trimesters of pregnancy for advanced maternal age. Cultured amniocytes karyotype indicated full trisomy 21. Subsequently, the fetus developed congenital cataract diagnosed at 24 weeks. This is the first antenatal diagnosis of this complication of Down syndrome. Copyright © 1999 John Wiley & Sons, Ltd.

Three-dimensional/Four-dimensional Sonography moved Prenatal Diagnosis of Fetal Anomalies from the Second to the First Trimester of Pregnancy

“…Prenatal diagnosis of fetal cataract was reported in the late second and third pregnancies. [29][30][31][32][33] Figure 40 shows fetal bilateral cataract with microphthalmia as early as 14 weeks of gestation.…”

Early sonographic detection of recurrent fetal eye anomalies

“…Approximately one‐third of cases are idiopathic, and many of these are familial or hereditary; both autosomal dominant and autosomal recessive modes of inheritance have been reported17, 29, 30. The remainder are probably caused by intrauterine infection (rubella, toxoplasmosis, cytomegalic inclusion disease and syphilis), chromosomal disorders (trisomies 13, 18, 20 and 21 and Turner's syndrome), or systemic disorders12, 15, 31.…”

“…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.…”

“…Charts for normal intra‐orbital and interorbital diameters have been made available to help the clinician identify hypertelorism and hypotelorism1–5, in addition to charts for normal lens development throughout pregnancy6. 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.…”

Clinicopathological study of bilateral developmental cataracts diagnosed in utero

“…One previously reported case with a similar 'marker' chromosome derived from chromosome 21 showed spina bifida, a heart defect and cataracts [3]. Bilateral congenital cataracts, detected in utero by ultrasound, have also been identified in trisomy 21 [12].…”