Down Syndrome – High Risk Mothers And Early Detection

April 19, 2023 by No Comments

As an expecting mother, please be sure to keep all doctor’s appointments, take all prenatal vitamins and dietary supplements, and be absolutely certain to begin taking care of your child from the moment you find out you’re pregnant. Prenatal care is essential for any expecting mother. Down Syndrome, as a primary concern for pregnant women over the age of 35, or for women genetically predisposed to give birth to a child with this condition, can sometimes be detected as early as the first trimester. Please see your doctor regularly and as soon as possible for an ultrasound.

Although there is not much that advanced medicine, as of yet, can do to prevent this troubling disease, there are ways a woman can prepare herself and her family to care for a child with Down Syndrome. This, of course, applies to many pregnancies and potential birth defects, such as Trisomy-18 and other chromosomal abnormalities that may occur. Taking care of yourself while you are pregnant is the most important thing you can do.

Any pregnancy is important, and many variables are certainly worth attending to during those crucial months before your child is born. Whether it has already been determined that yours is a high-risk pregnancy, or if you may possibly be a high-risk pregnancy, even if (as far as you know) you and your baby are in perfect health, medical attention is essential from the earliest possible point in your pregnancy.

One very important thing to do, in addition to all other prenatal care, is to have an ultra-screen done in your first trimester. An ultra-screen is a procedure that has been extensively studied. Screening is recommended for all pregnant patients, not just women over the age of 35. Of all Down Syndrome pregnancies, 91 percent can be detected by use of an ultra-screen in the first trimester. There is, however, a five percent chance of getting a false-positive result, therefore, if the first ultra screen is positive, reschedule another to be sure. If the screening detects a Trisomy-18 defect it is likely to be accurate. The false-positive rate on the ultra screen for Trisomy-18 is more like one percent. The ultra screen can detect, incredibly early, the chances of Trisomy-18 with up to 98 percent accuracy.

So, some of you eager expecting mothers are probably wondering, how exactly is the ultra-screen test performed? A combination ultrasound and blood test are keys to this procedure and the accuracy of its results. According to experts who routinely use the equipment, “the test begins with an ultrasound examination between 11w1d and 13w6d gestation.” The CRL needs to be between 45 and 84 mm. CRL is measured for accurate pregnancy dating (i.e. the date of conception) and nuchal translucency (NT) is measured as well before the procedure can be performed. NT is a specific marker for chromosomal aneuploidy which can be detected by this procedure. At the time of the ultrasound exam, the doctors will collect a dried blood sample via fingerstick.

Along with the dried blood sample taken, the ultrasound data is entered onto the test requisition form and sent to laboratories for complete analysis. The blood sample is screened for free Beta HCG and Plasma Protein A(PAPP-A), a pregnancy-associated plasma protein. The risk for Down Syndrome in the fetus as well as the risk for Trisomy-18 are calculated based on the patent’s age, the nuchal translucency, as well as the freebeta and PAPP-A. Despite the medical jargon that is sometimes difficult to get around, get the ultra-screen in your first trimester, and ask your doctor specific questions no matter how much you don’t understand. The number one objective is to understand as much as you possibly can when it comes to your unborn child.