Ultrasonographic screening for the Down syndrome fetus

Article Abstract:

Down syndrome is a congenital, or birth-related, disorder characterized by moderate to severe mental retardation and physical abnormalities, including a sloping forehead, small ear passages, eye discoloration, short broad hands with a single crease in the palm, a flat nose, and a dwarf-like appearance. The incidence of Down syndrome is greater among infants born to mothers over the age of 40 years, mothers with previous pregnancies affected by Down syndrome, and mothers with Down syndrome. Down syndrome can be detected before birth by genetic analysis of fetal tissue. Furthermore, Down syndrome has been associated with elevated levels of alpha-fetoprotein. However, screening programs based on maternal age, alpha-fetoprotein levels, and genetic analysis have only been effective in identifying 60 percent or fewer cases of Down syndrome. Fifty percent of cases of Down syndrome are associated with structural abnormalities, mainly of the heart, which can be detected by ultrasonography. Since ultrasonography, the use of sound waves to visualize internal images, is often performed in pregnant women. The accuracy of ultrasonography in detecting Down syndrome was assessed by a review of the published literature on this topic. Other physical defects that have been used as markers for Down syndrome include the thickening of the nape of the neck and shortening of the thigh bone. Ultrasonographic screening for Down syndrome may only be effective in identifying fetuses with several physical defects. Although ultrasonographic screening in the second trimester of pregnancy is not very sensitive or specific for identifying Down syndrome, it may be a useful addition to screening tests, such as alpha-fetoprotein. (Consumer Summary produced by Reliance Medical Information, Inc.)

Ultrasound imaging, Fetus, Alpha fetoproteins

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Fetal and maternal plasma endothelin levels during the second half of pregnancy

Article Abstract:

Fetal endothelin levels exceed those of the mother, but there is no correlation with gestational age. Endothelin is produced by the cells lining blood vessels, and its secretion primarily causes blood vessel constriction. Sixty-four women had blood samples drawn from the umbilical cord by passing a needle through the maternal abdomen. This was done for diagnostic purposes, but all fetuses selected for the study were normal. Prior to the procedure blood was also drawn from the mother. In addition, blood was drawn from the umbilical cord of eight healthy newborns. No correlation was found between either fetal and maternal endothelin levels and gestational age or between endothelin levels between the mother and the fetus. Fetal endothelin levels averaged 2.5 picograms per milliliter versus maternal levels of 1.3 picograms per milliliter versus newborn levels of 15.77 picograms per milliliter. The increase in endothelin level after birth seems reasonable considering the changes in vascular resistance that follow birth.

Analysis, Physiological aspects, Endothelin, Pregnancy, Fetal blood, Gestational age

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Nuchal thickness, urine beta-core fragment level, and maternal age for Down syndrome screening

Article Abstract:

Measuring beta-core fragment in urine samples of pregnant women may be an effective test for Down syndrome when combined with the mother's age and the thickness of the fetus's neck. Beta-core fragment is a metabolite of human chorionic gonadotropin, which is one of the proteins measured in the triple screen. In a study of 1,360 pregnant women, researchers found that urinary beta-core fragment, the mother's age and the thickness of the fetal neck correctly identified most of the 21 women who were later found to have a Down syndrome baby by amniocentesis.

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