title: Amelia: a multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.
abstract: This study describes the epidemiology of congenital amelia (absence of limb/s), using the largest series of cases known to date. Data were gathered by 20 surveillance programs on congenital anomalies, all International Clearinghouse for Birth Defects Surveillance and Research members, from all continents but Africa, from 1968 to 2006, depending on the program. Reported clinical information on cases was thoroughly reviewed to identify those strictly meeting the definition of amelia. Those with amniotic bands or limb-body wall complex were excluded. The primary epidemiological analyses focused on isolated cases and those with multiple congenital anomalies (MCA). A total of 326 amelia cases were ascertained among 23,110,591 live births, stillbirths and (for some programs) elective terminations of pregnancy for fetal anomalies. The overall total prevalence was 1.41 per 100,000 (95% confidence interval: 1.26-1.57). Only China Beijing and Mexico RYVEMCE had total prevalences, which were significantly higher than this overall total prevalence. Some under-registration could influence the total prevalence in some programs. Liveborn cases represented 54.6% of total. Among monomelic cases (representing 65.2% of nonsyndromic amelia cases), both sides were equally involved, and the upper limbs (53.9%) were slightly more frequently affected. One of the most interesting findings was a higher prevalence of amelia among offspring of mothers younger than 20 years. Sixty-nine percent of the cases had MCA or syndromes. The most frequent defects associated with amelia were other types of musculoskeletal defects, intestinal, some renal and genital defects, oral clefts, defects of cardiac septa, and anencephaly.
authors: Instituto de Investigación de Enfermedades Raras, Madrid, Spain. eva.bermejo@isciii.es
authors: Eva
authors: E
authors: Bermejo-Sánchez
authors: Lourdes
authors: L
authors: Cuevas
authors: Emmanuelle
authors: E
authors: Amar
authors: Marian K
authors: MK
authors: Bakker
authors: Sebastiano
authors: S
authors: Bianca
authors: Fabrizio
authors: F
authors: Bianchi
authors: Mark A
authors: MA
authors: Canfield
authors: Eduardo E
authors: EE
authors: Castilla
authors: Maurizio
authors: M
authors: Clementi
authors: Guido
authors: G
authors: Cocchi
authors: Marcia L
authors: ML
authors: Feldkamp
authors: Danielle
authors: D
authors: Landau
authors: Emanuele
authors: E
authors: Leoncini
authors: Zhu
authors: Z
authors: Li
authors: R Brian
authors: RB
authors: Lowry
authors: Pierpaolo
authors: P
authors: Mastroiacovo
authors: Osvaldo M
authors: OM
authors: Mutchinick
authors: Anke
authors: A
authors: Rissmann
authors: Annukka
authors: A
authors: Ritvanen
authors: Gioacchino
authors: G
authors: Scarano
authors: Csaba
authors: C
authors: Siffel
authors: Elena
authors: E
authors: Szabova
authors: María-Luisa
authors: ML
authors: Martínez-Frías
mesh_terms: D000569:Americas / Q000453:epidemiology; D001315:Australia / Q000453:epidemiology; D035843:Biomedical Research / Q000639:trends; D002681:China / Q000453:epidemiology; D000013:Congenital Abnormalities / Q000453:epidemiology* / Q000473:pathology; D004480:Ectromelia / Q000453:epidemiology* / Q000235:genetics / Q000473:pathology*; D016021:Epidemiologic Studies; D005060:Europe / Q000453:epidemiology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007391:International Cooperation; D008297:Male; D011159:Population Surveillance / Q000379:methods*; D011247:Pregnancy; D015995:Prevalence; D012042:Registries; D055815:Young Adult