Dysmorphic Growth and Genetic Abnormalities

  • Paul LyonsEmail author
  • Nathan McLaughlin
Part of the Current Clinical Practice book series (CCP)


Most fetuses are free from identifiable genetic abnormalities. Their pattern of growth and development falls within the range of normal parameters. Under some circumstances, physical growth is restricted (intrauterine growth restriction). This is discussed in Chap.  8. Under other circumstances, however, genetic abnormalities lead to abnormalities in growth, development, or both. These abnormalities may be relatively minor (e.g., color blindness) or they might be more significant (e.g., muscular dystrophy). Primary care providers must be familiar with common abnormalities and available screening options to identify these conditions when they arise. Routine fetal assessment has expanded greatly since its inception and especially notably in the past 10 years. Patients are often unaware of options available to them and the implications that these tests can have for the pregnancy and beyond. It is vitally important to be aware of and counsel on all recommended methods for prenatal assessment as an oversight could lead to a potentially missed diagnosis of congenital disorders. Providers need to be aware of all available screening methods in order to fully and correctly counsel their patients of their options for genetic screening.


Down syndrome Muscular dystrophy Primary care provider Neural tube defect Color blindness 

Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  1. 1.School of MedicineCalifornia University of Science and MedicineSan BernardinoUSA
  2. 2.School of MedicineUniversity of CaliforniaRiversideUSA

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