title: Congenital limb deficiencies in newborn infants: prevalence, characteristics and prenatal diagnosis.
abstract: Congenital limb deficiency (CLD) occurs in 0.54 to 0.59/1000 live-born infants and varies according to its anatomic location, type and cause. Our aim was to present a fetus with a prenatal ultrasonographic diagnosis of CLD (transverse reduction deficiency of the left upper limb), and to determine the prevalence and clinical characteristics of CLD at a tertiary medical centre in Israel. Among 78 500 live-born infants, there were 24 cases of CLD (0.31/1000): 45.8% of the CLD cases with affected upper limbs, 45.8% with affected lower limbs, and 8.4% with both limbs affected; 88.4% of the limb deficiencies were longitudinal and 11.6% were transverse; and, 33.3% (8/24) of the affected newborn infants had additional congenital anomalies. We conclude that CLD is not an infrequent finding in live-born infants. Comprehensive ultrasonography of the fetus allows early prenatal diagnosis of CLD and provides the parents with important information and helps them in their decision regarding the fate of the pregnancy.
authors.affiliation: Department of Neonatology, Rambam Medical Center, Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 31096, Israel.
authors.forename: I R
authors.initials: IR
authors.lastname: Makhoul
authors.forename: I
authors.initials: I
authors.lastname: Goldstein
authors.forename: T
authors.initials: T
authors.lastname: Smolkin
authors.forename: R
authors.initials: R
authors.lastname: Avrahami
authors.forename: Polo
authors.initials: P
authors.lastname: Sujov
mesh_terms: D000328:Adult; D000013:Congenital Abnormalities / Q000453:epidemiology; D005260:Female; D006801:Humans; D007557:Israel / Q000453:epidemiology; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging* / Q000453:epidemiology* / Q000209:etiology; D008297:Male; D011247:Pregnancy; D014463:Ultrasonography