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Learn More Birth Center Tour. Depending on your family history, ethnicity and heritage, your developing baby may be at risk for one of these genetic conditions: Canavan disease — This condition is most common in people of Ashkenazi Jewish ancestry, with a carrier incidence of 1 in Canavan disease is a central nervous system disease that is usually fatal in childhood, with a few people surviving to adulthood.

Lack of a certain enzyme results in destruction of the central nervous system over time. There is currently no effective treatment. Sickle cell disease — This condition is most common in people of African American, African, Mediterranean, Hispanic and South American ancestry, with the carrier risk ranging from 1 in 10 to 1 in 40, depending on ethnicity.

Sickle cell disease is caused by abnormal hemoglobin that changes the shape of red blood cells.

Prenatal Diagnosis

People with the condition suffer from anemia, severe pain, a tendency to develop infections and other serious health problems. Frequent blood transfusions, infection-preventing antibiotics and bone marrow transplants are available treatments. UCSF doctors were the first to develop a prenatal test for sickle cell disease, also called sickle cell anemia. Tay-Sachs disease — People of Ashkenazi Jewish and French Canadian ancestry have the greatest chance of being carriers of Tay-Sachs disease, about 1 in 30 versus 1 in for the general population. The disease results from the abnormal buildup of certain substances in the brain, and it is fatal in early childhood.


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Thalassemia — Individuals of Mediterranean, Southeast Asian and African ancestry have the greatest chance of being carriers for a group of blood disorders called thalassemia. In general, thalassemia affects a person's ability to produce hemoglobin, the protein in blood that transports oxygen. Children with severe cases may not survive.

Others have anemia, bone growth problems and issues with the liver and spleen.

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Treatment may require blood transfusions. UCSF doctors were the first to develop a prenatal test for thalassemia.

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Shilpa Chetty, MD Perinatologist and medical geneticist. Management options may include:. Prenatal diagnosis involves testing pregnant women who are at high risk of having babies with major congenital abnormalities or hereditary conditions. These include:.

Prenatal Diagnosis Journal

Prenatal diagnostic tests have limitations and not all abnormalities and diseases can be detected by the current medical technology. The method used is related to the type of abnormalities being considered.


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There are two main types of tests: A invasive tests to obtain foetal cells or foetal related cells for chromosomal and other analyses and B imaging to detect structural abnormalities. For chromosomal abnormalities, direct culture of cell samples from the foetus by one of the following methods is performed at different gestational age: chorionic villus sampling, amniocentesis or cordocentesis.

Chorionic villus sampling — It is performed between 10 to 13 weeks of gestation.

Aims & Scope

A sample of placental tissue is obtained and the result of chromosomal analysis is usually available in weeks. Amniocentesis — It is usually performed between 16 to 20 weeks of gestation. A sample of liquor surrounding the foetus is taken. Result of chromosomal analysis is usually available within 3 weeks. Cordocentesis — It is usually done after 20 weeks of gestation. A sample of foetal blood is taken from the umbilical cord.

“Need Of Prenatal Diagnosis And Recent Technologies” by Dr. Ashwin Dalal