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Down Syndrome

 


             8. Brittle bone disease.
             A high level could also indicate not enough amniotic fluid, more than one fetus .
             developing (twins), or that the mother is farther along in the pregnancy than is .
             estimated. Low levels signal an increased risk for Down Syndrome. Low levels .
             can also occur when the fetus has died or when the mother is overweight.
             If a mother receives a high or low test result she is referred to a .
             Perinatologist (a specialist in Maternal/Fetal medicine) and sent for a type 2 .
             sonogram. A type 2 sonogram is similar to a regular ultrasound but they take .
             measurements of arms, legs, head, look at the spine, measure heart rate and .
             look closely at the heart and the 4 chambers. The sonogram is performed on the .
             abdomen and trans vaginally. Sonogram alone is only 60% accurate. The .
             newest screening test on the rise is the Fetal Nuchal Translucency test. It is .
             performed via an ultrasound/sonogram in the late first trimester. It involves .
             identifying/measuring collections of fluid behind the neck/back of the fetus. .
             .
             The procedures available for diagnostic testing include Amniocentesis, .
             Chorionic Villus Sampling (CVS), and Percutaneous Umbilical Sampling .
             (PUBS). Amniocentesis is performed between 15-20 weeks gestation and .
             involves the removal of a small amount of amniotic fluid that surrounds the .
             fetus. During the procedure an ultrasound is performed to locate the fetus, the .
             fluid, and the placement of the placenta. A long thin needle is inserted through .
             the abdominal wall and amniotic fluid is removed. Chromosomes are examined .
             from the fetal cells to detect Down Syndrome and other defects such as .
             Trisomy 13 and 18. Results are back in 2 weeks and are about 98-99% .
             accurate. There is a 1/100 chance of miscarriage. Chorionic Villus Sampling is .
             done between 8-12 weeks gestation. An instrument is placed through the cervix .
             or abdomen to remove fetal tissue from the area of the placenta.


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