Birth defects: Epidemiology, types, and patterns
- Carlos A Bacino, MD, FACMG
Carlos A Bacino, MD, FACMG
- Professor of Molecular and Human Genetics
- Baylor College of Medicine
- Section Editors
- Helen V Firth, DM, FRCP, DCH
Helen V Firth, DM, FRCP, DCH
- Section Editor — Genetics
- Consultant Clinical Geneticist
- Addenbrooke's Hospital, Cambridge, UK
- Louise Wilkins-Haug, MD, PhD
Louise Wilkins-Haug, MD, PhD
- Section Editor — Prenatal Diagnosis and Genetics
- Professor of Obstetrics, Gynecology, and Reproductive Biology
- Harvard Medical School
A birth defect is any structural anomaly present at birth. These defects can be caused by genetic abnormalities and/or environmental exposures, although the underlying etiology is often unknown. Birth defects can be isolated or present in a characteristic combination or pattern that may affect one or more organ systems. This topic discusses the epidemiology, types, and patterns of birth defects. Causes and evaluation of birth defects are discussed in detail separately, as are specific congenital anomalies. (See "Birth defects: Causes" and "Birth defects: Approach to evaluation".)
Major congenital malformations are abnormalities that have medical, surgical, or cosmetic significance (see 'Major' below). They occur in approximately 2 to 4 percent of livebirths [1-3] and are more common in stillborn spontaneous miscarriages. The overall prevalence of most major birth defects does not vary much across ethnic groups [4,5]. However, the risk for different types of malformations is variable and may be related to genetic susceptibilities, as well as cultural and social differences that can influence exposures (eg, increased presence of neural tube defects in populations that have dietary deficiency of folic acid) [5-7]. The prevalence of most major birth defects has remained constant, although some have shown a significant increase such as gastroschisis . Minor anomalies (see 'Minor' below) are seen more frequently than major malformations.
Disruptions are vascular defects that result from destruction of or interference with normal development. The prevalence of disruptions (see 'Disruptions' below) is dependent upon the type of anomaly but can range from 0.5 to 4 per 10,000 [9,10]. Deformations (see 'Deformations' below) are the result of modification of normal structures, are more common in the limbs and head, and are seen in approximately 3 percent of newborns .
TYPES AND PATTERNS OF DEFECTS
Specific terms are used to describe congenital abnormalities. These terms indicate the cause of the anomalies (table 1). Other terms are used to describe specific patterns of malformations.
Malformations — Malformations are defects of organs or body parts due to an intrinsically abnormal developmental process. In this process, a structure is not formed, is partially formed, or is formed in an abnormal fashion.
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