Birth Defect Screening Has Shocking Benefit: Cancer Detection In Moms

Over the decades we have found birth defects in the developing fetus in many ways. In the early days we used physical exams and even x-rays, and then we moved to the very sophisticated testing through ultrasound, and finally it moved into looking at various blood factors. In the past few years blood tests for genetic tests have focused on looking for fetal DNA circulating in mom's circulation. Behind the test is actually some scrutiny of the mom's DNA to detect differences and shockingly the lab that produces the chromosome cell free DNA test MaterniT21, Sequenom, has now reported finding cancer in a mom when looking at her blood for birth defects. 

There are many ways at each stage of pregnancy to determine risks of maternal diseases. Getting a pelvic ultrasound is actually a check on the mom's ovaries and any signs of pelvic disease like of the uterus and the bowel (although early cancers cannot be found this way) as well as a genetic screening test. Ultrasound is not very sensitive for picking up chromosomal birth defects, however and it only picks up about 60% of the abnormalities in pregnancy, even if done after all the organs are both formed and large enough to visualize completely. It was discovered 30 years ago that certain birth defects are associated with abnormal blood levels of certain proteins and certain hormones. For many years now we have used this test, combined with more intense testing of older mom's to try to determine which babies have some of the most common serious birth defects.

But testing ultimately, for many women, meant invasive testing through sampling the amniotic fluid with a test called amniocentesis. Now we have NIPT by testing cfDNA! While this many not on the surface sound "simplified", this testing of mom's blood during early pregnancy can determine if your baby's chromosomes are normal. It stands for "None Invasive Prenatal Testing" and it's looking for cell-free fetal DNA circulating in mom's blood. This test does not pick up all abnormalities, and should not be done without early ultrasound tests of fetal health. This has the ability to revolutionize care, as currently about 80-90% of serious birth defects are not picked up until about 18-20 weeks of pregnancy due to the tests that are most frequently used. But it gives parents an option of knowing the health of the baby in a much safer way than amniocentesis. Several companies are now doing this test, and in fact, one option is to find out the sex of your baby, very reliably, and much earlier than ever before!

And this test can show the DNA associated iwth cancers like colon cancer or lymphomas!


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