• Journal of Yeungnam Medical Science
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• v.14 no.1
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• pp.168-174
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• 1997

Alphafetoprotein(AFP) is a glycoprotein synthesized by the fetus early in gestation by the yolk sac and later by the gastrointestinal tract and liver. The concentration of AFP is highest in fetal serum and amniotic fluid around 13th week, and 32nd week in maternal serum. Some conditions are associated with abnormal maternal serum AFP concentration. For examples, neural tube defects, omphalocele, renal anomalies are associated with elevated maternal serum AFP and fetal death, chromosomal trisomies are associated with low level of maternal serum AFP. So maternal serum AFP screening plays a significant role in assessing candidates for prenatal diagnosis and prenatal counselling in pregnant women. This study evaluates the normal ranges of AFP using enzyme immunoassay in normal pregnant women. We studied 500 normal pregnant women who visited the Department of Obstetrics & Gynecology, Yeungnam Medical Center, Yeungnam University during the period through January, 1993 to September, 1996. The group of the study were selected randomly at various gestational ages from 8 to 41 weeks. The results were summarized as follows: 1. The lowest level of AFP in our study group was 2.1ng/ml at 8 weeks of gestation. Thereafter serum alpha-fetoprotein concentrations rose rapidly to reach a peak value at 32nd week. 2. The mean levels of AFP in the primipara and multipara were $166.37{\pm}12.06ng/ml$, and $223.78{\pm}14.00ng/ml$, respectively, showing stastiscally significant difference between these two groups(p<0.01). 3. The mean levels of AFP between mothers who delivered male and female babies were $192.96{\pm}13.00ng/ml$, and $194.29{\pm}13.84ng/ml$, respectively, without statistically significant difference(p>0.05). 4. The normal ranges of maternal serum AFP according to each gestational week were evaluated.

• Journal of Genetic Medicine
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• v.5 no.2
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• pp.119-124
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• 2008

Purpose: Aneuploidy is the cause of diseases such as Down syndrome or Edward syndrome and, more generally, is a major cause of mental retardation and fetal loss. The purpose of this study was to evaluate the association between MTHFR (C677T) or MTRR (A66G) polymorphisms and fetal aneuploidy. Materials and Methods: Data was collected from 37 women who had a fetus with aneuploidy (cases) and 78 women who had previously delivered at least two healthy children without aneuploidy and did not have a history of miscarriage or abnormal pregnancy (controls). The MTHFR (C677T) or MTRR (A66G) polymorphisms were analyzed by PCR-restriction fragment length polymorphism assay. Results: The frequencies of the MTHFR 677 CC, CT, and TT genotypes were 30.7%, 48.7%, and 20.6% in the control group and 37.8%, 48.6%, and 13.5% in the case group, respectively. There were no significant differences in genotype frequencies between the two groups. For the MTRR A66G polymorphism, the frequencies of the AA, AG and GG genotypes were 50%, 46.1%, and 3.9% in the control group and 13.5%, 81.1%, and 5.4% in case group, respectively. The frequency of the MTRR AG mutant was significantly increased in the case group, with an odds ratio of 6.5 (95% CI: 2.3-18.6, P<0.05). Conclusion: The results of this study suggest that mother carriers with the MTRR G allele have an increased risk of fetal aneuploidy, while the MTHFR T allele is not associated with increased risk of fetal aneuploidy. The MTRR A66G polymorphism may be a risk factor for producing a child with chromosomal aneuploidy.