Thirty years ago when I first started private practice I spent my days off performing genetic amniocenteses at the Rose Hospital Genetics Center. In those days virtually every woman over the age of 35 who was pregnant elected to have an amnio to rule out genetic, chromosomal abnormalities. Initially the miscarriage rate was 1/100-200 after the procedure. In the early 1980s , I began using continuous, real-time, ultrasound monitoring of the needle insertion to make the procedure safer and more efficient. This lowered the miscarriage rate to 1/200-400. In those days we had a dream, perhaps fantasy, that perhaps in the future a test would be developed that could sample fetal DNA from a maternal blood and avoid the pain and risks of miscarriage from an amniocentesis.
TODAY I can report that this dream has become a clinical reality. In high risk patients, we can draw a sample of maternal blood any time after 10 weeks gestation and in 10 days know if the fetus does or does not have Trisomy 21 (Down Syndrome). This is the most common chromosomal abnormality affecting the babies of women over the age of 35. The test can also detect two other abnormalities, Trisomy 13 and 18.
I consider this test a true revolution in prenatal, genetic diagnosis and it will drastically change how we screen first and second trimester pregnancies in Obstetrics. New paradigms for screening have developed over the past 15 years based on ultrasound and blood screening of specific substances. These paradigms will be re-written over the next 5 years as we gain more experience with this exciting new technology.
If you have any questions about this new test, please call our office for a consultation and we will be happy to discuss them with you.
RB Gore
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