Genetic Screening; Non Invasive Prenatal Testing NIPT

As more women are waiting later to get married and start families, they may find themselves sitting across from a genetic counselor It's now possible, with more accuracy and without any risk to the fetus, to test for some of the most common genetic abnormalities in older women who are pregnant

Do you have any questions since we last talked over the phone? No, but it's been a really long time Bethany Eisenberg is having her first baby at 36 You got the gender, so that was exciting

I got everythingand is meeting with a genetic counselor

Basically, your results were negative or normal, which means there's a very low likelihood or Down syndrome, trisomy 18, and trisomy 13 in your pregnancy So, very reassuring The non-invasive prenatal test, or NIPT blood test, came out four years ago A San Diego company called Sequenom was the first to market with its version There are now a total of four major versions of the test on the market, and many more in development

So, when I was waiting those 7 to 10 days for the results, I was nervous then NIPT can be given to women with high-risk pregnancies, which also includes women over 35, as early as nine weeks Eisenberg took her test at almost 10 weeks, and her genetic counselor relieved her fears She said, "You're having a baby girl Everything looks perfect, everything looks fine, and no need for further testing

" During pregnancy, some of the DNA from the placenta crosses into the mother's bloodstream NIPT works by analyzing the DNA fragments for some common abnormalities, including Down syndrome, Edwards syndrome, Patau syndrome, and Turner syndrome, to name a few If there's something that performs almost as good as an invasive test, and it allows you to reserve the invasive tests for women who have a very high likelihood of having an abnormality, that benefits everybody We've been in this office for a year and a half Dr

Andy Hall, a professor of reproductive medicine at UCSD, was part of the clinical trials to help bring the screening to women I think it's a huge breakthrough I mean, the impact is immense in terms of the way it's changing the way we practice Before NIPT, women who were considered high-risk only had the option of getting an amniocentesis or a chorionic villus sampling to know for certain if their baby had any chromosomal abnormalities And the advantage of amniocentesis and CVS is that it's a definitive test, but it's not risk-free

Both of the procedures carry a risk of miscarriage Amniocentesis is associated with a miscarriage rate of somewhere around about 1 in 500, CVS with a miscarriage rate of about 1 in 100 Since NIPT came out across California, there has been a 30% to 50% drop in these invasive procedures A study published last year by California-based testing company, Natera, looked at more than 17,000 women, and out of the 356 women who received a test result showing their baby was at a high risk for a chromosomal condition, 22 aborted their pregnancies without getting a diagnostic test like an amniocentesis The tests are complicated, that they should be confined to patients with an indication, and that pre- and post-test counseling is an integral part of the testing process, and that patients should not make irrevocable decisions based on NIPT results because of the problem of false positive and false negative results

Since NIPT is considered only a screening test, it isn't 100% accurate, but Eisenberg is satisfied with her negative results It does give a huge peace of mind, and I think that some women still opt to have the amnio even with this type of test because they think, "The amnio has been used for so much longer and it's so much better And how can a blood test give you all these results?" And I think science is amazing Kaushal Patel, San Diego Union-Tribune


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