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!

Passing Your Uterine Lining, Menstrual Period Norms

Decidual Cast Periods can be fairly easy, passing some tissue at a time, or off can come the whole lining in one piece called a decidual cast. Generally the lining of the uterus is only 6-8 mm thick at the time of the menstrual period, and it is shed gradually, a few cells at a time. The decidual cast is when the entire lining passes spontaneously. It's not uncommon, but it usually both uncomfortable, and alarming to some. But us women are designed to have some sort of periods Or Not? We have to pass tissue each month. Or Not? Are they good for us? Or Not? Do we want them? Or Not? Is this something that is individual? Or Not? It's a complex topic that I will be discussing a lot over my time in this blog. So lets start with basics: How much do we bleed and what are we loosing, and just what was this that the patient passed? And another basic: track your periods, and the Women's Health Practice site http://www.womenshealthpractice.com/media/pdf/menstrual_chart.pdf you...

Post-Endometrial Ablation Syndrome

If you have had an endometrial ablation and have developed symptoms of pelvic pain you might have post endometrial ablation syndrome. What is post-endometrial ablation syndrome? It is a constellation of symptoms due to entrapped blood or tissue within a uterus that has previously undergone an endometrial ablation. We are able to diagnose this at Women's Health Practic e but occasionally other conditions are causing similar symptoms. Other complications of endometrial ablation include pregnancy, risks from pre-existing conditions such as a polyp or fibroid, an infection of the uterus, or a pregnancy. If you have had a tubal ligation then it is possible that the condition could be post-ablation tubal sterilization syndrome. The ablation procedure is designed to destroy all lining tissue, but in fact there is no way to confirm the completeness of the ablation. It is thought that either residual or regrowth of the tissue is producing the symptoms of post-endometrial ablation syndrom...

You Have an IUD: But a Positive Pregnancy Test

Fortunately IUD pregnancy failures are rare. But if you have an IUD for contraception, and you get a positive pregnancy test, you probably ask yourself, what next? Well, make your gyno appointment promptly, this is a condition that is not typically an emergency, but it can be and it’s not handled over the phone or on a blog, or through self diagnosis! That being said, some researchers from University of Texas Southwestern Medical Center in Dallas decided to look back at over 4100 women who had IUDs and of those 42 cases who became pregnant in their institution, over about a year period of time, to help understand what these women could expect when they got to their gyno and what actually happened to their pregnancies. Accurate pregnancy diagnosis, pelvic examination, and pelvic ultrasound were the cornerstones of the evaluations. They had very specific ways they looked at their ultrasound to prove there was no pregnancy in the fallopian tube, or partially in the fallopian tube...

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