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Fetal Echocardiography
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The Fetal Echocardiography Program provides detailed evaluation of a baby's heart during the mother's pregnancy. The ultrasound technology used in echocardiography is similar to that used in the obstetrical screening programs, but exams are done by cardiologists trained specifically to evaluate the details of the cardiovascular system.

Approximately 1,200 fetal echocardiograms are performed each year at Children's Hospital Boston. Children's staff work closely with high-risk obstetrical programs, diagnostic ultrasound practices, genetic counselors, perinatologists, cardiac surgeons and the Cardiac Intensive Care Unit staff to provide appropriate counseling to affected families, and to coordinate the pre-birth and newborn care of the infant with heart disease. A program of prenatal cardiac intervention is available for selected high-risk cardiac problems.

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What is fetal echocardiography?
Fetal echocardiography is an ultrasound test performed during pregnancy to evaluate the heart of the unborn baby. The technique is the same as that used for transthoracic (across the chest cavity) studies, but the transducer is now placed on the abdomen instead of on the chest.

This has been shown to be a very safe procedure for both mother and fetus, and a tremendous amount of information about the fetal heart can be obtained.

A prenatal diagnosis of heart disease allows for faster medical and surgical intervention once the baby is born. For babies with serious heart disease, prenatal diagnosis has been shown to improve overall outcome.

When is a fetal echocardiogram necessary?
It is not necessary for all pregnancies to be screened with a fetal echocardiogram. Many women will have a second trimester ultrasound by an obstetrician or radiologist that evaluates the heart in addition to the rest of the fetus. This is sufficient in most cases. Situations in which a fetal echocardiogram may be necessary include, but are not limited to, the following:
  • if a sibling was born with a congenital (present at birth) heart defect.
  • a family history of congenital heart disease (such as parents, aunts or uncles, or grandparents).
  • a chromosomal or genetic abnormality discovered in the fetus.
  • if a mother has taken certain medications that may cause congenital heart defects, such as anti-seizure medications or prescription acne medications.
  • if the mother has abused alcohol or drugs during pregnancy.
  • if a mother has diabetes, phenylketonuria, or a connective tissue disease such as lupus.
  • if the mother has had rubella during pregnancy.
  • a routine prenatal ultrasound has discovered possible heart abnormalities.
How is a fetal echocardiogram performed?
A fetal echocardiogram is performed by a pediatric cardiologist or a maternal fetal specialist (also called a perinatologist) who is specially trained. The test may be done using an abdominal or transvaginal ultrasound. Fetal echocardiograms are usually performed in the second trimester of pregnancy, at about 18 weeks.
  • Abdominal Ultrasound: In an abdominal ultrasound, imaging is done through the abdominal wall.
  • Transvaginal Ultrasound: In a transvaginal ultrasound, a smaller ultrasound transducer is inserted into the vagina and rests against the back of the vagina to create an image. A transvaginal ultrasound produces a sharper image than abdominal ultrasound, and is often used in early pregnancy.
Getting the results
If the test is positive, a cardiologist will review the results with th4e family. The discussion will include all available information about treatment options and prognosis. If needed, separate meetings can be set up with a number of other specialists.

Some parents wish to meet with other families who have had prenatal diagnosis of heart disease or who have given birth to children with heart disease. This can be arranged separately.

Other tests or procedures that may be needed include the following:

  • Additional ultrasounds or echocardiography: to confirm the diagnosis, follow fetal growth and monitor fetal welling.
  • Amniocentesis: a test performed to determine chromosomal and genetic disorders and certain birth defects. The test involves inserting a needle through the abdominal and uterine wall into the amniotic sac (the fluid-filled chamber surrounding the fetus) to retrieve a sample of amniotic fluid.
  • Genetic counseling: providing an assessment of inheritable risk factors and information to patients and relatives, concerning the consequences of a disorder, the probability of developing or transmitting it and ways in which it can be prevented, treated and managed.
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