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Limb deficiencies in newborn infants.
C K McGuirk1, M N Westgate, L B Holmes
1Genetics and Teratology Unit, Pediatric Service, Massachusetts General Hospital, Boston, Massachusetts, USA. cmcguirk@partners.org
Pediatrics
|October 3, 2001
Summary
Limb reduction defects affect 0.69/1000 infants. Vascular disruption is the most common cause, accounting for 35% of cases, highlighting the need for surveillance programs in evaluating infant limb deficiencies.
Area of Science:
- Medical surveillance
- Birth defects epidemiology
- Congenital abnormalities
Background:
- Limb reduction defects (LRDs) are congenital abnormalities requiring accurate prevalence data.
- Establishing baseline rates is crucial for evaluating infants exposed to potential teratogens, particularly those causing vascular disruption.
- Understanding the etiology of LRDs aids in risk assessment and prevention strategies.
Purpose of the Study:
- To determine the prevalence of all types of limb reduction defects.
- To specifically ascertain the prevalence of LRDs potentially caused by vascular disruption.
- To provide a baseline for evaluating infants exposed in utero to vascular disrupting teratogens.
Main Methods:
- A hospital-based Active Malformations Surveillance Program identified LRDs in liveborn, stillborn, and electively terminated infants.
- Data collection spanned 1972–1974 and 1979–1994, with an extended search to ensure comprehensive ascertainment.
- Limb defects were classified by anatomical location, affected digits, and apparent cause.
Main Results:
- The overall prevalence of limb deficiency was 0.69 per 1000 births.
- Vascular disruption was identified as the apparent cause in 35% of LRD cases.
- The prevalence of LRDs attributed to presumed vascular disruption was 0.22 per 1000 births.
Conclusions:
- Hospital-based surveillance, including elective terminations, effectively establishes LRD prevalence.
- Clinical findings provide more accurate etiological classification of LRDs than ICD codes alone.
- The study provides essential baseline data on LRDs, particularly those linked to vascular disruption.