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Causes of Congenital Malformations
M Hassan Toufaily1,2, Marie-Noel Westgate1,2, Angela E Lin1,2,3
1Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Boston.
Birth Defects Research
|January 30, 2018
Summary
Over 41 years, a surveillance program identified malformations in 2.4% of births. While some causes like genetic disorders are known, many infant malformations remain unexplained.
Area of Science:
- Medical genetics
- Developmental biology
- Epidemiology
Background:
- Established causes of congenital malformations exist.
- Population-based surveillance identifies infants with malformations and their etiologies.
- This study follows a previous analysis of the Active Malformations Surveillance Program.
Purpose of the Study:
- To determine the frequency and apparent etiologies of malformations in a large birth cohort.
- To analyze malformation causes over a 41-year period.
Main Methods:
- Reviewed 289,365 births from 1972-2012 at Brigham and Women's Hospital.
- Identified abnormalities through clinical examinations, diagnostic testing, and autopsies.
- Included live births, stillbirths, and elective pregnancy terminations due to fetal anomalies.
Main Results:
- 7020 infants and fetuses (2.4%) had malformations.
- Apparent etiologies identified in 26.6% included Mendelian disorders, chromosomal abnormalities, vascular disruption, twinning complications, and environmental factors.
- A significant proportion of malformations had unknown etiology.
Conclusions:
- Several causes of malformations are identified, but many remain unexplained.
- Future surveillance incorporating genome sequencing and chromosomal microarray analysis will improve attribution to genetic mechanisms.
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