Genetics

The Barbara Bush Children’s Hospital Genetics Division provides genetic testing, diagnosis and counseling to newborns, children and adults with a known or suspected inherited disease, as well as coordination of care for children with congenital birth defects and metabolic disorders. With Board certified Clinical Geneticists, Board certified master’s level genetic counselors and specialized nursing support, ours is the largest and most full-service program of its kind in northern New England.

Our involvement in genetics research helps to keep our treatment capabilities on the cutting edge and gives patients and families access to the most advanced knowledge about these conditions. We also have ongoing clinical trials, and we are involved in a quality improvement project evaluating children with developmental delays, a regional pilot program in collaboration with the American College of Medical Genetics.

Conditions, Diagnosis & Treatment

Learn more about conditions we treat, diagnosis and treatment options we offer.

Conditions

The Barbara Bush Children’s Hospital Genetics Division sees the full range of both common and rare inherited conditions and disorders, including:

  • Cystic fibrosis
  • Down syndrome (Trisomy 21)
  • Skeletal dysplasias
  • Fragile X syndrome
  • Hemophilia
  • Jewish heritage disorders
  • Klinefelter syndrome
  • Lysosomal storage diseases
  • Marfan syndrome
  • Triple X syndrome
  • Trisomy 13
  • Trisomy 18
  • Turner syndrome
  • Chromosome abnormalities
  • Birth defects
  • Developmental delays

Diagnosis

Today there are more than 1,000 genetic disorders for which testing can be performed. We provide the most current and comprehensive testing capabilities, including:

  • Prenatal testing including maternal serum screening, fetal ultrasound, amniocentesis and chorionic villus sampling (provided at MMP Women’s Health-Maternal Fetal Medicine)
  • Newborn screening
  • Cytogenetic testing (chromosome studies) which looks at the number or shape of chromosomes
  • Fluorescence in situ hybridization (FISH) testing which is used to detect common chromosome problems caused by an extra chromosome, such as Down syndrome
  • Biochemical testing which measures the level of protein or enzyme present to help determine if the gene that produces that protein is functioning properly
  • DNA testing is performed when scientists know exactly where a gene is located on a chromosome and what changes in the gene cause a specific disease

Treatment

Treatment for genetic disease is highly individualized. Our team provides and/or coordinates an extensive range of services tailored to the unique needs of each patient and family, including:

  • Ongoing management of complex medical care for individuals with known diagnoses
  • Drug treatment
  • Genetic counseling
  • Management of inborn errors of metabolism including enzyme replacement therapy for lysosomal storage diseases
  • Bone marrow stem cell transplantation
  • Referral to the numerous other pediatric medical and surgical subspecialty services available at The Barbara Bush Children’s Hospital, as well as access to family support resources
  • When there is no effective cure or treatment for a genetic disorder, we provide supportive care for patients and their families in coordination with their local healthcare providers