Genetic Counseling
New Recommendations for Screening of All Pregnant Women
The American College of Obstetrics and Gynecology recently revised its guidelines for screening during pregnancy. The new guidelines recommend that all pregnant women be offered screening for fetal chromosome abnormalities, and that all pregnant women, regardless of their age, should have the option of diagnostic testing.
Screening Tests
 Screening tests are used to assess risk. It is important to understand that screening for risk is different than actually diagnosing a problem. The result of a screen is a risk level, such as “1 in 500”, or “1 in 10”. Screening tests are safe during pregnancy, although a screening test will not be able to identify all babies who might have a problem.
First Trimester Screening
Uses ultrasound to measure the back of the baby’s neck (the nuchal translucency) combined with a blood test to calculate the risk of chromosome problems, including Down syndrome (trisomy 21) and trisomy 18. This screening offers the highest detection rate of Down syndrome (trisomy 21) in the first trimester.
Sequential Screening
The same test as First Trimester screening, but adds a second blood test in the second trimester to evaluate for neural tube defects, like spina bifida. Offers both early answers in the first trimester, and a higher detection rate for potential chromosome problems.
Quad Screen
Blood test offered in the second trimester that screens for Down syndrome (trisomy 21), trisomy 18 and neural tube defects. This is the most comprehensive screening test in the second trimester.
Level II Sonogram
Uses sound waves to take detailed pictures of the baby and surrounding structures. Most structural birth defects can be diagnosed through ultrasound and many babies with chromosome abnormalities (but not all babies) will have “soft signs” or subtle differences that could indicate a problem.
Diagnostic Test
Diagnostic tests confirm whether or not a fetal abnormality exists. These tests are often invasive and can carry a risk (although small) for pregnancy loss, so tests are generally reserved for couples that have a known risk for a specific condition.
Amniocentesis
Amniocentesis is taking a sample of the fluid around the baby by inserting a thin needle through the mother’s abdomen and uterus. Ultrasound is used during the test. Skin cells from the baby are in the fluid and are tested in the laboratory for chromosome problems. The risk of miscarriage is less than 1 in 200 chances.
 You will have an opportunity to ask detailed questions when you meet with the Genetic Counselor the day of your appointment.
For more information, you can visit the March of Dimes website: www.marchofdimes.com.
If you have questions please discuss these testing options with your doctor.
Timeline for Testing
- 10 weeks, 3 days – 13 weeks, 6 days
First Trimester Screening
- 10 weeks, 3 days – 13 weeks, 6 days
Part I of Sequential Screening
- 15 weeks – 21 weeks, 6 days
Part II of Sequential Screening
- 15 weeks – 21 weeks, 6 days
Quad Screening
- 15 – 20 weeks gestation
Amniocentesis
- 18 – 20 weeks gestation
Level II Sonogram
Genetic Counselors
Lenna L. Levitch, MS, CGC is board certified genetic counselor with over 20 years of experience working in the Kansas City, St. Louis areas and in Salt Lake City, Utah. She has a Bachelor’s degree in Human Genetics from the University of Kansas and a Master’s degree in Genetic Counseling from Sarah Lawrence College. She is currently the Genetic Counseling Program Director for the Cotton-O’Neil Cancer Center and Maternal Fetal Medicine.
Molly M. Lund, MS, CGC is a board certified genetic counselor with over six years experience working in the Kansas City area. She has a Bachelor's degree in Biology from Texas Christian University and a Master's degree in Genetic Counseling from Northwestern University. She has worked with pediatric and prenatal patients through Children's Mercy Hospital for the last six years.
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