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.

Prevalence of Orofacial Clefts in Nigeria

“…These changes in trends are well documented in these countries where birth defect registries exist (Bermejo-Sánchez et al ., 2011). In most developing countries especially in Africa, the proportions of birth defects are unknown and contribution to mortality rates are yet to be established.…”

Reports to the Vaccine Adverse Event Reporting System after hepatitis A and hepatitis AB vaccines in pregnant women

“…Absence of limb(s) or congenital amelia is a rare birth defect. A multi-center descriptive epidemiologic international study by Bermejo-Sanchez et al 27 found a total prevalence of Amelia (either one or more limbs) to be 1.41 per 100,000 births. In the Bermejo-Sanchez study absence of both lower extremities accounted for approximately 10% of all amelia cases.…”

Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature

“…In another article of this issue devoted to the study of amelia in the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) [Bermejo‐Sánchez et al, 2011], the processes of human limb development are described in detail. Briefly, the human limb development initiates in the 26th day after fertilization for the upper limb, and day 28 for the lower limb, and extends until day 56 both for the upper and the lower limbs.…”

“…This subject is also detailed in the article on amelia in this issue [Bermejo‐Sánchez et al, 2011]. The genetic processes that control limb development are complicated and still not fully understood, but several gene families are known to be involved in the spatially and temporally coordinated growth and differentiation of the developing limb.…”