In utero detection of fetal cataracts

Prenatal Ultrasonographic Diagnosis of Rhizomelic Chondrodysplasia punctata by Detection of Rhizomelic Shortening and Bilateral Cataracts

“…It is known that 75% of neonates with RCDP have cataracts [9]. Sonographic diagnosis of fetal congenital cataracts has been reported in several syndromes and idiopathic cases [10][11][12]. However, to the best of our knowledge, prenatal diagnosis of cataract in RCDP has not yet been reported.…”

“…The detection of hyperechogenic lens and ring by ultrasound is adequate for the diagnosis of fetal cataract. On the other hand, failure to demonstrate cataracts by ultrasound does not rule out even severe cases of fetal cataract [10][11][12]. The definition of cataract is the opacity of the lens to light waves, whereas ultrasound uses sound waves, which explains the failure even in severe cases.…”

Congenital Cataract in Triplet Pregnancy after IVF with Frozen Embryos: Prenatal Diagnosis and Management

“…Except for an idiopathic case [6], all of the prenatal ultrasonographic diagnoses were made in fetuses with severe congenital anomalies [2], Lowe's syndrome [9], Down's syndrome [10] or fetuses with affected relatives [3,11]. This is the first case report of congenital cataract developed in 1 of the triplets after IVF with frozen embryos.…”

“…Only 38% of cases are idiopathic [6,9,11]. In any case with intrauterine diagnosis of congenital cataracts, the mother should be evaluated for infections such as rubella, toxoplasma or cytomegalovirus.…”

Inherited cerebrorenal syndromes

“…1 Cataracts have been demon strated as early as 20 weeks of gestation, accompanied by necrosis and disorganization of embryonic lens epi thelium. 3 the cataracts should be detected by routine newborn physical examination, and the diagnosis of lowe syndrome should be considered in any male infant in whom they are present. early cataract removal is recom mended to improve visual stimulation.…”