نتایج جستجو برای: 21 trisomy
تعداد نتایج: 251021 فیلتر نتایج به سال:
OBJECTIVE To provide estimates of maternal age- and gestational age-related risks for trisomy 21. METHODS The prevalence of trisomy 21 was examined in 57,614 women who had fetal karyotyping at 9-16 weeks of gestation for the sole indication of maternal age of 35 years or more. On the basis of the maternal age distribution and the reported maternal age-related risk for trisomy 21 at birth, the...
Trisomy 21 is associated with high maternal serum concentrations of intact human chorionic gonadotrophin alpha(HCG) and free beta-HCG whereas these concentrations are markedly decreased in trisomy 18. In this study, we investigated the effect of trisomy 21 and 18 on endogenous HCG concentrations and luteinizing hormone (LH)/HCG receptor expression in placental villous tissue in eight trisomy 21...
BACKGROUND It has been suggested that an increase in oxidative stress in individuals with Down syndrome (DS) may cause adverse effects in the cell membranes through the oxidation of polyunsatured fatty acids. METHODS We examined erythrocyte malondialdehyde (MDA) levels in 100 individuals of both sexes (34 males and 66 females) with DS, aged from newborn to 29 years. The cytogenetic analysis r...
We evaluated performance characteristics of a laboratory-developed, non-invasive prenatal screening (NIPS) assay for fetal aneuploidies. This assay employs massively parallel shotgun sequencing with full automation. GC sequencing bias correction and statistical smoothing were performed to enhance discrimination of affected and unaffected pregnancies. Maternal plasma samples from pregnancies wit...
The paper deals with an analysis of digito-palmar dermatoglyphics with the parents of 54 children with Trisomy 21 (Down Syndrome) studied before [15]. The results obtained confirm the data found in the foreign specialised literature according to which many of the dermatoglyphic malformations present at children with Trisomy 21 can also be found to their apparently healthy parents but in a small...
OBJECTIVE The purpose of this study was to evaluate the trisomy 21 screening performance of the first-trimester combined test followed by second-trimester genetic sonography. METHODS This retrospective cohort study included all women with singleton pregnancies undergoing combined screening followed by genetic sonography at 17 to 21 weeks from January 1, 2005, to January 31, 2008. Combined tes...
It is well known that varying degrees of mosaicism for Trisomy 21, primarily a combination of normal and Trisomy 21 cells within individual tissues, may exist in the human population. This involves both Trisomy 21 mosaicism occurring in the germ line and Trisomy 21 mosaicism documented in different somatic tissues, or indeed a combination of both in the same subjects. Information on the inciden...
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