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Birth defects: Approach to evaluation

Carlos A Bacino, MD, FACMG
Section Editors
Helen V Firth, DM, FRCP, DCH
Louise Wilkins-Haug, MD, PhD
Deputy Editor
Elizabeth TePas, MD, MS


A birth defect is any structural anomaly present at birth that may interfere with function depending upon the organ or structure involved (eg, meningomyelocele and ambulation, or cleft palate and feeding and speech). 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.

Evaluation of a child with a birth defect includes a comprehensive history and physical examination. This is followed by further testing, as indicated. A general approach to evaluation is presented here. More detailed descriptions are included in the topic reviews of specific disorders. The types, patterns, and causes of birth defects are also discussed separately. (See "Birth defects: Epidemiology, types, and patterns" and "Birth defects: Causes".)


Referral to a genetic specialist is suggested for any child that presents with a single major birth defect or a combination of multiple birth defects, whether those are major or minor, since the risk for having a syndrome increases with the number of defects and some syndromes have a genetic etiology. In addition, any family history of a specific birth defect(s) or history of miscarriages and/or stillbirths should prompt referral to a geneticist. Other referrals may include plastic surgery for limb anomalies (polydactyly, syndactyly) or for craniosynostoses, orthopedics for clubfoot deformities, ophthalmology for microphthalmia, and neurology for microcephaly.


The prenatal history may uncover specific exposures and etiologic factors. This should include medical and obstetric history, such as the duration of gestation, prenatal care, and maternal exposures (eg, alcohol, prescribed or illicit drugs, cigarettes, fevers, illnesses, chemicals, radiation). A history of stillbirths and miscarriages could be related to a balanced chromosomal rearrangement in one of the parents. Results of noninvasive and invasive prenatal testing, including ultrasound examinations, should be obtained. (See "Assessment of the newborn infant", section on 'History' and "Birth defects: Causes" and "Routine prenatal ultrasonography as a screening tool".)

A complete family history and pedigree (four generations, if possible) should be obtained to help uncover genetic causes. The age of the parents is important because the incidence of chromosome aneuploidies is increased in older mothers and de novo autosomal dominant mutations (eg, achondroplasia, neurofibromatosis type 1) are more commonly seen with older parents, with the effect being more marked for advanced paternal age. The parents should be asked about consanguinity, which increases the incidence of autosomal recessive disorders. (See "Congenital cytogenetic abnormalities", section on 'Numeric abnormalities' and "Achondroplasia" and "Neurofibromatosis type 1 (NF1): Pathogenesis, clinical features, and diagnosis".)

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Literature review current through: Sep 2017. | This topic last updated: Sep 08, 2017.
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  1. Meyerson MD, Weddington GT. Syndromes, communicative disorders, and black children. J Natl Med Assoc 1986; 78:409.
  2. Woolf CM, Myrianthopoulos NC. Polydactyly in American negroes and whites. Am J Hum Genet 1973; 25:397.
  3. Hall J, Froster-Iskenius UG, Allanson JE. Handbook of normal physical measurements, 1st ed, Oxford Medical Publications, Oxford University Press, 1989.
  4. Miller DT, Chung W, Nasir R, et al. 16p11.2 Recurrent Microdeletion. GeneReviews, Seattle, 2015. http://www.ncbi.nlm.nih.gov/books/NBK11167/ (Accessed on August 19, 2016).
  5. McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 Deletion Syndrome. GeneReviews, Seattle, 2013. http://www.ncbi.nlm.nih.gov/books/NBK1523/ (Accessed on August 19, 2016).
  6. Yobb TM, Somerville MJ, Willatt L, et al. Microduplication and triplication of 22q11.2: a highly variable syndrome. Am J Hum Genet 2005; 76:865.
  7. Shaffer LG, Kashork CD, Saleki R, et al. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr 2006; 149:98.
  8. Schoumans J, Ruivenkamp C, Holmberg E, et al. Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH). J Med Genet 2005; 42:699.
  9. Tyson C, Harvard C, Locker R, et al. Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH. Am J Med Genet A 2005; 139:173.
  10. Stankiewicz P, Beaudet AL. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev 2007; 17:182.
  11. Lu X, Shaw CA, Patel A, et al. Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One 2007; 2:e327.
  12. Miller MJ, Kennedy AD, Eckhart AD, et al. Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism. J Inherit Metab Dis 2015; 38:1029.
  13. Yang Y, Muzny DM, Xia F, et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 2014; 312:1870.