Risk of fetal chromosomal anomalies in patients with elevated maternal serum alpha-fetoprotein

Article Abstract:

Elevated levels of maternal serum alpha-fetoprotein (MSAFP, a protein produced by the fetus) can indicate fetal chromosomal abnormalities, and a decision regarding further prenatal testing must be made when MSAFP levels are too high. At issue is the question of whether to routinely karyotype fetal cells (examine their chromosomes) in pregnancies where MSAFP levels are high. Karyotyping is an expensive procedure that uses considerable laboratory resources. It is accomplished by growing cells, obtained by amniocentesis, in tissue culture and evaluating them. A fundamental piece of information needed for determining this issue is the actual incidence of chromosomal abnormalities (anomalies) when MSAFP levels are high. This question was examined by studying results from an MSAFP screening program, which screened 71,563 women over a 10-year period. Of these, 727 women underwent amniocentesis and fetal karyotyping. Seven chromosomal anomalies were detected in fetuses of women with high MSAFP (in blood); an incidence of 1 in 104. In six cases, amniotic fluid levels of AFP were normal. The nature of the abnormalities is discussed. The results indicate that patients with elevated MSAFP should be advised regarding their risk of fetal chromosome abnormality and offered fetal karyotyping and amniotic fluid AFP determination. The evidence provided by ultrasound examination in cases where MSAFP is elevated is insufficient to determine whether abnormalities are present. (Consumer Summary produced by Reliance Medical Information, Inc.)

Evaluation, Physiological aspects, Karyotypes

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Elevated maternal serum alpha-fetoprotein and mild fetal uropathy

Article Abstract:

Alpha-fetoprotein is a protein that is present in the fetus, which can be used to monitor defects of the neural tube, from which the brain and spinal cord are derived. Blood levels of maternal serum alpha-fetoprotein (MSAFP) are usually measured between 14 and 16 weeks of pregnancy to monitor for neural tube defects. Recently, mild urinary tract disease has been related to elevated MSAFP levels; the fetuses of these pregnancies have an otherwise normal physical development. The association between elevated MSAFP levels and mild fetal uropathy (disease of the urinary tract) in the fetus was assessed. The study included 61 patients with elevated MSAFP and 80 patients who required ultrasonography (a method of visualizing the fetus) for unrelated reasons. Pyelectasis is the enlargement of the renal pelvis, the portion of the kidney close to the ureter (a tube connecting the kidney to the bladder). This urinary tract disorder was detected in 33 percent of male fetuses of pregnancies with elevated MSAFP, but only 5 percent of male fetuses of pregnancies with normal MSAFP levels. Pyelectasis was also detected in 16 percent of female fetuses of pregnancies with elevated MSAFP, but in none of the pregnancies with normal MSAFP levels. These findings indicate that elevated MSAFP levels can be associated with mild fetal uropathy. (Consumer Summary produced by Reliance Medical Information, Inc.)

Risk factors, Kidney diseases

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Elevated maternal serum alpha-fetoprotein concentration and fetal chromosomal abnormalities

Article Abstract:

Many pregnant women are given a blood test for maternal serum alpha-fetoprotein (MSAFP). A high MSAFP level may indicate presence of fetal abnormalities such as neural tube defects, heart defects, fetal death, twins, and abnormal placentas. In most medical centers, women with high MSAFP concentrations are referred for amniocentesis to measure the amount of alpha-fetoprotein (AFP) in the amniotic fluid surrounding the fetus and to analyze fetal cells for genetic abnormalities, which is called chromosomal analysis. The incidence of fetal chromosomal abnormalities in 1,038 pregnant women with high MSAFP was evaluated. Of these women, 964 had normal amniotic fluid AFP and 74 had elevated amniotic fluid AFP. There were eight fetal chromosomal abnormalities in the total group (patients with high MSAFP); of these, five patients had high amniotic AFP and three had normal amniotic AFP. It was concluded that when pregnant women have a high concentration of MSAFP and a normal amniotic AFP, the chance of the fetus having a major chromosomal abnormality is extremely low. Women with a high concentration of AFP both in their blood and in the amniotic fluid should have fetal chromosomal analysis. Decisions regarding chromosomal analysis should also consider the age of the mother and the financial resources available. (Consumer Summary produced by Reliance Medical Information, Inc.)

Health aspects, Usage, Pregnant women

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