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.To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:
- MARDEN PM, SMITH DW, MCDONALD MJ. CONGENITAL ANOMALIES IN THE NEWBORN INFANT, INCLUDING MINOR VARIATIONS. A STUDY OF 4,412 BABIES BY SURFACE EXAMINATION FOR ANOMALIES AND BUCCAL SMEAR FOR SEX CHROMATIN. J Pediatr 1964; 64:357.
- Leppig KA, Werler MM, Cann CI, et al. Predictive value of minor anomalies. I. Association with major malformations. J Pediatr 1987; 110:531.
- Holmes LB. Current concepts in genetics. Congenital malformations. N Engl J Med 1976; 295:204.
- Gilboa SM, Devine OJ, Kucik JE, et al. Congenital Heart Defects in the United States: Estimating the Magnitude of the Affected Population in 2010. Circulation 2016; 134:101.
- Egbe A, Lee S, Ho D, Uppu S. Effect of Race on the Prevalence of Congenital Malformations among Newborns in the United States. Ethn Dis 2015; 25:226.
- Aggarwal D, Warmerdam B, Wyatt K, et al. Prevalence of birth defects among American-Indian births in California, 1983-2010. Birth Defects Res A Clin Mol Teratol 2015; 103:105.
- Egbe AC. Birth defects in the newborn population: race and ethnicity. Pediatr Neonatol 2015; 56:183.
- Jones AM, Isenburg J, Salemi JL, et al. Increasing Prevalence of Gastroschisis--14 States, 1995-2012. MMWR Morb Mortal Wkly Rep 2016; 65:23.
- Husain T, Langlois PH, Sever LE, Gambello MJ. Descriptive epidemiologic features shared by birth defects thought to be related to vascular disruption in Texas, 1996-2002. Birth Defects Res A Clin Mol Teratol 2008; 82:435.
- Cignini P, Giorlandino C, Padula F, et al. Epidemiology and risk factors of amniotic band syndrome, or ADAM sequence. J Prenat Med 2012; 6:59.
- Graham JM, Sanchez-Lara PA. Smith's Recognizable Patterns of Human Deformation, 4th ed., Elsevier, Philadelphia 2016.
- Muragaki Y, Mundlos S, Upton J, Olsen BR. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 1996; 272:548.
- Lammer EJ, Chen DT, Hoar RM, et al. Retinoic acid embryopathy. N Engl J Med 1985; 313:837.
- Van Regemorter N, Dodion J, Druart C, et al. Congenital malformations in 10,000 consecutive births in a university hospital: need for genetic counseling and prenatal diagnosis. J Pediatr 1984; 104:386.
- Queisser-Luft A, Stolz G, Wiesel A, et al. Malformations in newborn: results based on 30,940 infants and fetuses from the Mainz congenital birth defect monitoring system (1990-1998). Arch Gynecol Obstet 2002; 266:163.
- Myrianthopoulos NC, Chung CS. Congenital malformations in singletons: epidemiologic survey. Report from the Collaborative Perinatal project. Birth Defects Orig Artic Ser 1974; 10:1.
- Méhes K, Mestyán J, Knoch V, Vincellér M. Minor malformations in the neonate. Helv Paediatr Acta 1973; 28:477.
- Aicardi J, Chevrie JJ, Rousselie F. [Spasma-in-flexion syndrome, callosal agenesis, chorioretinal abnormalities]. Arch Fr Pediatr 1969; 26:1103.
- Tonkin ET, Wang TJ, Lisgo S, et al. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet 2004; 36:636.
- Jones KL. Dysmorphology approach and classification. In: Smith's recognizable patterns of human malformation, 6th ed, Elsevier Saunders, Philadelphia 2006. p.1.
- POTTER EL. Bilateral renal agenesis. J Pediatr 1946; 29:68.
- Thomas IT, Smith DW. Oligohydramnios, cause of the nonrenal features of Potter's syndrome, including pulmonary hypoplasia. J Pediatr 1974; 84:811.
- Opitz JM, Herrmann J, Pettersen JC, et al. Terminological, diagnostic, nosological, and anatomical-developmental aspects of developmental defects in man. Adv Hum Genet 1979; 9:71.
- Hersh JH, Angle B, Fox TL, et al. Developmental field defects: coming together of associations and sequences during blastogenesis. Am J Med Genet 2002; 110:320.
- Temtamy SA, Miller JD. Extending the scope of the VATER association: definition of the VATER syndrome. J Pediatr 1974; 85:345.
- Solomon BD, Bear KA, Kimonis V, et al. Clinical geneticists' views of VACTERL/VATER association. Am J Med Genet A 2012; 158A:3087.
- Alter BP, Rosenberg PS. VACTERL-H Association and Fanconi Anemia. Mol Syndromol 2013; 4:87.
- Solomon BD, Baker LA, Bear KA, et al. An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomalies) association. J Pediatr 2014; 164:451.
- Graham JM. Clinical approach to deformation problems. In: Smith's recognizable patterns of human deformation, Elsevier Saunders, Philadelphia 2007. p.3.
- Horton WA, Lunstrum GP. Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism. Rev Endocr Metab Disord 2002; 3:381.