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Prenatal genetic diagnosis of Down's syndrome
Mary-Alice Abbott1, Peter Benn
1Connecticut Children's Medical Center, 282 Washington Street, Hartford, CT 06106, USA. mabbott@ccmckids.org
Insights
Prenatal screening and diagnosis help detect Down's syndrome, a common birth defect. Advanced maternal age increases risk, necessitating early screening and diagnostic methods for fetal health.
Area of Science:
- Genetics and Obstetrics
- Prenatal diagnostics
Background:
- Down's syndrome is a frequent cause of congenital abnormalities and intellectual disability.
- Increased maternal age is a significant risk factor for Down's syndrome pregnancies.
- Prenatal detection is crucial for informed pregnancy management and fetal health.
Purpose of the Study:
- To outline current prenatal screening and diagnostic approaches for Down's syndrome.
- To highlight the importance of these methods, especially for advanced maternal age pregnancies.
- To discuss the evolution towards safer and more informative diagnostic techniques.
Main Methods:
- Prenatal screening utilizes maternal age, serum markers, and fetal ultrasound in the first and second trimesters.
- Definitive diagnosis is achieved through invasive procedures like amniocentesis or chorionic villus sampling.
- Molecular genetic techniques are increasingly used alongside traditional chromosome analysis.
Main Results:
- Screening tests identify pregnancies at increased risk for Down's syndrome.
- Invasive diagnostic tests provide definitive confirmation.
- Molecular genetics offers broader disorder identification and earlier results.
Conclusions:
- Current prenatal screening and diagnostic methods are vital for managing Down's syndrome.
- There is an ongoing need for safer, non-invasive methods for fetal cell acquisition.
- Advancements in molecular genetics are improving the scope and timeliness of prenatal genetic testing.
Abstract:
Down's syndrome is a common cause of birth defects and mental retardation. Prenatal screening and diagnosis of Down's syndrome is important to any pregnant woman interested in the health of her fetus and is of particular concern to the growing number of advanced maternal age women who are at increased risk of an affected pregnancy. Prenatal screening tests, performed in the first and second trimester, are based on maternal age, serum tests and fetal ultrasound. Definitive diagnosis requires amniocentesis or chorionic villus sampling. Hopefully, these invasive tests can, one day, be replaced with safer methods of obtaining fetal cells. Molecular genetic techniques are augmenting traditional chromosome analysis, broadening the range of identifiable genetic disorders and allowing earlier results.