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​Our Clinical Genetics Services

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Genetic Consultation

Genetic counseling provides information about genetic diseases, birth defects, inherited disorders, and how they can be passed from parent to child.

For people who have a family history of a certain disorder, genetic counseling can help to explain their risk for having a baby with the same condition.

Genetic counseling also explains how a condition may affect a child. Some genetic diseases or birth defects can be found before a baby is born. Others are not diagnosed until after birth, or until the child grows older.

Whenever the condition is found, a geneticist can provide information and support and can help locate community resources and services for the child and family.

Reproductive Genetics at UPMC Magee-Womens Hospital

Family history of genetic disorder and/or birth defect (such as cystic fibrosis)

  • Advanced maternal age
  • First trimester screening
  • Multiple marker screening (Quad)
  • Follow-up to abnormal pregnancy screening results
  • Follow-up of an abnormality detected on fetal ultrasound
  • Informed consent for genetic testing/screening

Pediatric Genetics at UPMC Children’s Hospital of Pittsburgh

  • Inborn Errors of Metabolism Clinic
  • General Genetics Clinic

Adult Genetics

  • Family or personal history of cancer (in association with the Cancer Genetics Program of the University of Pittsburgh Cancer Institute)
  • Family history or suspected diagnosis of a connective tissue disorder (such as Marfan syndrome or Ehlers-Danlos)
  • Family history or suspected diagnosis of a hereditary cardiovascular or vascular disorder (such as hereditary cardiomyopathies or hereditary aneurysm syndromes)
  • Malignant hyperthermia (RYR1 gene testing)

Fetal Diagnosis & Treatment Center (FDTC)

Patients who have an abnormal result from prenatal testing can be enrolled in the Fetal Diagnosis & Treatment Center (FDTC). The FDTC coordinates the efforts of various specialties, including genetics, ultrasound, high-risk pregnancy management, pediatric surgery, pediatric urology, and pediatric neurosurgery to evaluate pregnancies identified with birth defects.

Referral recommendations for skilled care and management of complicated conditions are made through this team approach. This continuum of care extends from the time of diagnosis to delivery and into the newborn period.

The following procedures may be offered at FDTC:

  • Amniocentesis
  • Chorionic villus sampling