How We Diagnose

Cardiac Imaging

Cardiac imaging is an essential tool, enabling cardiologists to assess a patient's heart for any structural abnormalities. This information not only allows cardiac specialists to accurately diagnose underlying simple and complex congenital heart defects, it also helps them determine the best course of treatment for the patient.

Learn more about our cardiac imaging services.

Fetal Diagnosis

Fetal echocardiography allows our expert team of skilled cardiologists and perinatologists to evaluate the heart of a baby while still in the womb.This ultrasound imaging technology, which uses sound waves to evaluate the baby's heart for problems, can provide a more detailed image of the baby's heart than a regular pregnancy ultrasound, by showing:

  • Blood flow through the heart
  • Heart rhythm
  • Structures of the baby's heart

In fact, many congenital heart malformations can be diagnosed as early as the 12th to 20th week of pregnancy when using this technology. If necessary, the test will be repeated to confirm any findings. While most unborn babies do not require a fetal echocardiogram, there are some situations where the test is recommended. These situations may include, but are not limited to:

  • Family history of congenital heart disease
  • Sibling born with a congenital heart defect
  • Discovery of a chromosomal or genetic abnormality
  • If the mother abused drugs or alcohol during pregnancy
  • If the mother has diabetes, phenylketonuria or a connective tissue disease such as lupus

Genetic Evaluation Counseling

From an infant in need of a heart transplant to a pregnant mother with a family history of cardiomyopathy, genetic evaluation and counseling can answer questions about the possible diagnosis, genetic causes and the chance of passing it on to future children. By performing comprehensive genetic evaluation and combining it with newest genetic testing available, we diagnose and treat patients with a variety genetic disorders and birth defects, including Marfan Syndrome.

For those concerned about potential genetic complications, we provide information about the risk for certain birth defects and genetic disorders. Advanced techniques are used to determine risk for a variety of genetic disorders that might develop during pregnancy, with appropriate treatment or referral available.

Evaluation by a clinical geneticist typically consists of:

  • An assessment of the patient's medical history
  • A discussion about the patient's family tree
  • A physical examination
  • A discussion about the possible diagnosis and testing options (genetic counseling is also provided during the session)

Once the results are available, the medical geneticist or counselor can discuss the patient's prognosis and treatment options.