Pediatric genetic disorders and birth defects

Birth defects range from minor to severe, potentially affecting how body parts form and function and how the body uses food. While the cause may remain unknown or due to environmental causes, some problems are genetic (passed down through genes). We help your family understand the possible impact of birth defects and genetic disorders.

We offer a range of prenatal tests and early interventions for birth defects, genetic or otherwise. For inherited genes, our pediatric genetic specialists have advanced training to identify these challenges and, in some cases, prevent them.  

We diagnose and manage conditions including, but not limited to, Down syndrome, DiGeorge syndrome, Williams syndrome, Beckwith-Wiedemann syndrome, neurofibromatosis, Noonan syndrome and Fetal Alcohol Spectrum Disorder.  

Why choose Geisinger to care for birth defects and genetic disorders?

  • Specialized training and advanced research: Geisinger pediatric geneticists are trained in both pediatrics and genetics. Their extensive training ensures children receive the most advanced care available, based on the latest research:
  • Safe, effective screening and diagnosis: Family history and parents’ medical records can shed light on potential risk factors and disorders an unborn child may face. During an evaluation, our specialists will incorporate a review of personal and family medical history together with a physical exam to determine the next best steps in a diagnosis and treatment.
    • Geneticists work hand-in-hand with multiple areas of health care including: High-risk pregnancy (maternal-fetal medicine) specialists to provide safe, effective screening and treatment. 

  • Therapies for every stage of development: In many cases, we can provide breakthrough treatments for an unborn child, including access to fetal surgery. We can anticipate many of the needs of newborns with abnormalities by coordinating in advance with: 
    • Neonatal intensive care unit (NICU) 
    • Newborn nursery 
    • Specialists in pediatric heart care  
    • Pulmonary and respiratory disease physicians
    • Physical, occupational, and speech therapists in pediatric rehabilitation
  • Coordination of care: A genetic evaluation can be helpful across many specialties.  We work with the following health care providers to broaden the incorporation of Genetics into health care across Geisinger: 
    • Maternal fetal medicine for abnormal fetal ultrasounds or pregnancies at high-risk due to family history
    • Pulmonology for individuals with Cystic Fibrosis
    • Hematology for individuals with G6PD and hemoglobinopathies 
    • Cancer Genetics for ongoing monitoring of individuals at risk of cancer due to an inherited cancer syndrome
    • Newborn services and NICU to evaluate newborns with potential genetic disorders
    • Autism and Development Medicine Institute to help in the genetic evaluation of individuals with neurodevelopmental disorders

Genetic and physical abnormality conditions and treatments 

Our pediatric specialists offer breakthrough approaches to understanding and treating genetic abnormalities and birth defects.

  • Chromosomal disorders
  • Cleft palate
  • Clubfoot
  • Congenital diaphragmatic hernia
  • Cystic fibrosis
  • Down syndrome
  • Fetal abnormalities
  • Fetal airway obstruction
  • Fragile X syndrome
  • Heart defects
  • Sickle cell disease
  • Williams syndrome
  • Blood transfusion
  • Medication
  • Physical, occupational, and speech therapy
  • Surgery pre- or post- delivery

Related specialties and institutes

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