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Mary M. Murry, R.N., C.N.M.
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Mary M. Murry, R.N., C.N.M.
Mary M. Murry, R.N., C.N.M.
Mary Murry is a certified nurse-midwife in the Department of Obstetrics & Gynecology at Mayo Clinic, Rochester, Minn.
Murry, a Cincinnati native, has been a nurse-midwife practitioner for more than 20 years and is an instructor at the College of Medicine, Mayo Clinic. She was a contributing reviewer and writer of the "Mayo Clinic Guide to a Healthy Pregnancy" book.
Her research interests include adult female survivors of sexual abuse, women's perception of pain in labor, and obesity in pregnancy.
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Pregnancy and you blog
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Jan. 7, 2012
Prenatal genetic screening: Is it right for you?
By Mary M. Murry, R.N., C.N.M.
When I was pregnant with my son more than 20 years ago, prenatal genetic screening was a relatively new thing — and the options were limited. Today, prenatal genetic screening for Down syndrome and certain other conditions has become standard practice. Prenatal genetic screening isn't required, however, and the results aren't conclusive. This might leave you wondering whether you should do one test, two tests — or perhaps no tests.
Start by considering how likely you are to have a baby with Down syndrome. Think about your age — since the risk of having a baby with Down syndrome is higher for older mothers — as well as your family history. If you're unsure, consult your health care provider or a genetic counselor.
Then consider what you'll do with the test results. Prenatal genetic screening tests — such as first trimester screening or the quad screen — involve a blood sample from the mother and, for first trimester screening, an ultrasound to measure the amount of fluid in the tissue at the back of the baby's neck. These tests don't pose any risks for your health or your baby's health. However, they can only tell you if the risk of Down syndrome or certain other conditions is higher than normal. They can't tell you with certainty if your baby does or doesn't have a chromosomal disorder. That requires invasive testing, such as amniocentesis or chorionic villus sampling — both of which carry a slight risk of pregnancy loss. A new blood test for Down syndrome is now available in some areas, but a positive result still requires confirmation by amniocentesis or chorionic villus sampling.
Before you agree to prenatal genetic screening, ask yourself some questions. How important is the reassurance of a negative or normal screening test? If the results of a screening test are positive or worrisome, will you choose a more invasive diagnostic test that carries a possibility of losing the baby? Would a firm diagnosis affect how you handle the pregnancy or prepare for the baby? If you opt out of further testing, how will you handle the uncertainty about your baby's health?
These are tough questions that demand serious thought. There's no right answer — only the answer that's right for you.
9 comments posted
March 27, 2013 6:30 a.m.
Gracie, I'm sure this is hard for all of you. There are tests that will be able to help diagnosis the problem with the baby. An amniocentesis is when a thin needle is inserted into the uterus and a small amount of amniotic fluid is withdrawn and then tested for chromosomal abnormalities. There is also a blood test that can be done for specific chromosomal disorders. Some abnormalities aren't a result of chromosomal problems. A advanced level ultrasound can often help with the diagnosis of problems with the baby. I hope you, your son and daughter-in-law get the answers you need as well as some pictures of the baby.
- Mary@Mayo
March 22, 2013 5:18 p.m.
My son and Daughter in law are expecting their first child. Just had their first ultrasound at 22 weeks and were told that the baby has low brain development and alot of water on the brain. Not much else was said and referred to a specialist next week. They weren't even given pics at the ultrasound to look at. Does anyone know what this means and if an amnio test will help diagnosis?
- gracie
December 3, 2012 12:05 p.m.
There are new blood tests that look at the DNA of the baby that is in the mothers blood. Currently these tests are not considered diagnostic by themselves. It is still recommended by the companies that manufacture the tests that an amniocentisis or CVS be done to confirm the results. I would recommend speaking with your health care provider about the tests before deciding about the 1st trimester screen.
- Mary @ Mayo
November 26, 2012 2:57 p.m.
I recently went through what I now realize should be called The Nuchal Translucency Scare. I have read countless postings of women who were given false positives and go through days and weeks of heartache and then feel they have to take the risk of a 1:300 chance of miscarriage with a CVS or amnio test to confirm or rule out. I have seen false positive rates of 5% (what the doctors will tell you) to 80% (closer to actual). I HIGHLY recommend forgoing this test and taking the new Harmony test instead. It has been on the market for just 8 months now, and is non-invasive requiring only a blood test. IT IS 99.9% ACCURATE and blows away the NT test for this reason and makes the need for a CVS or amnio follow-up unnecessary. Our clinic unfortunately seemed to be motivated more by the fact that they receive more money for the NT screening process than for Harmony. We had to work hard to get information from them but luckily was able to get this. SUPER relieved to go from 1:38 to 1:10,000 chance!
- Syd
October 17, 2012 2:00 p.m.
Gilly, yes, there are less invasive options available. The MaterniT21-plus test is a blood test that can be done, I believe, as early as 10 weeks. The test can diagnose Trisomy 21, Trisomy 18 and Trisomy 13. I don't know how far along you are, but another option is to wait until your anatomy ultrasound and if there are concerns at that time, then maybe you want to consider the MaterniT21-Plus test vs an amnio. I can't stress enough that if you are having concerns, talk to your doctor. If they don't have the information you are looking for, have them refer you to the ob genetic counselor or to a high risk doctor for a consult (I highly recommend Dr. Karl Rose, he is a fountain of knowledge and so compassionate).
- Vanessa
September 21, 2012 5:37 p.m.
I just took the tests as i was asked to without thinking about the stress, my blood came back with a 1 in ten chance and i do not know what to do about invasive tests that could make me micarrage a healthy baby do i have any other option
- gilly
September 17, 2012 3:34 a.m.
I am 34 as of 08-12 and almost 20 weeks pregnant. My anatomy scan showed a hot spot on the baby's heart and they said his femur is .01mm short compared to the size of his head. Everything else is normal or above average. I took a blood test called the Harmony test and am waiting on the results now. But I'm still going crazy and I can't get nothing done because this is all I think about. PLEASE HELP ME
- Krystina
June 20, 2012 1:55 p.m.
What scientific studies have been done to determine if people with full T-21, Mosaic, and Translocation Down syndrome have OR do not have the ability to procreate; both male and female?
- James
February 6, 2012 9:12 a.m.
This is a great resource for expecting or breastfeeding mothers, and it's free! http://www.ttis.unt.edu/ or call: 800.733.4727
- Lauren
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