نتایج جستجو برای: trisomy of 21
تعداد نتایج: 21198882 فیلتر نتایج به سال:
Genetics The presence of a complete or partial third copy of human chromosome 21 (Hsa21) is the cause of DS. Partial copy should include all or part of the long arm of Hsa21.This excess of genetic material leads to a dysregulated expression of certain genes. The functional impact of these changes could be a direct result of the action of the proteins expressed in excess by the Hsa21 genes, or i...
OBJECTIVES To investigate the potential value of choroid plexus cyst, intracardiac echogenic focus, hydronephrosis and hyperechogenic bowel as markers of trisomy 21 at 11 + 0 to 13 + 6 weeks. METHODS We examined three-dimensional volumes from 228 fetuses with trisomy 21 and 797 chromosomally normal fetuses at 11 + 0 to 13 + 6 weeks of gestation. We looked for choroid plexus cysts with a minim...
OBJECTIVE To report the performance of massively parallel sequencing (MPS) based prenatal noninvasive fetal trisomy test based on cell-free DNA sequencing from maternal plasma in a routine clinical setting in China. METHOD The MPS-based test was offered as a prenatal screening test for trisomies 21 and 18 to pregnant women in 49 medical centers over 2 years. A total of 11,263 participants wer...
The syncytiotrophoblast (ST) is one of the major components of the human placenta, as it is involved in feto-maternal exchanges and the secretion of pregnancy-specific hormones. The aim of this study was to elucidate the formation and function of the ST in trisomy 21 (Down's syndrome). We first used the in vitro model of cytotrophoblast differentiation into ST. Cytotrophoblasts were isolated fr...
OBJECTIVE To determine the value of measuring fetal ear length at 11-14 weeks of gestation in screening for chromosomal defects. METHODS The fetal ear length was measured in 450 fetuses immediately before chorionic villus sampling for karyotyping at 11-14 weeks of gestation. RESULTS The median gestational age was 12 (range, 11-14) weeks. The fetal ear was successfully examined in all cases....
OBJECTIVES Measurement of the shortening fraction of the left ventricle (SFLV) is an objective way to assess systolic performance. The aim of the study was to compare first trimester SFLV values in euploid fetuses to those in fetuses with trisomy 21. METHODS We measured SFLV in 56 fetuses from 11 weeks to 13 weeks 6 days. The left ventricular diastolic diameter (LVDD) and left ventricular sys...
OBJECTIVE The aim of this study is to identify potential biomarkers for fetal trisomy 21 from previous publications using proteomic techniques and examine the potential value of such biomarkers in early screening for this aneuploidy. METHODS This was a case-control study of 25 pregnancies with fetal trisomy 21 and 50 euploid controls undergoing first-trimester screening for aneuploidies by a ...
Liver failure in neonates is a rare but often fatal disease. Trisomy 21 is not usually associated with significant infantile liver disease. If present, hepatic dysfunction in an infant with Trisomy 21 is likely to be attributed to transient myeloproliferative disorder with hepatic infiltration by hematopoietic elements and may be associated with secondary hemosiderosis. A less commonly recogniz...
OBJECTIVE To evaluate the clinical accuracy of the IONA® test for aneuploidy screening. METHODS This was a multicenter blinded study in which plasma samples from pregnant women at increased risk of trisomy 21 underwent cell-free DNA analysis utilizing the IONA test. For each sample, the IONA software generated a likelihood ratio and a maternal age-adjusted probability risk score for trisomies...
OBJECTIVE Trisomy 21 is associated with a flat face, which can now be quantified by measurement of the frontomaxillary facial (FMF) angle. The aim of this study was to examine whether in trisomy 21 fetuses fetal nuchal translucency (NT) thickness and maternal serum free ss-human chorionic gonadotropin (ss-hCG) and pregnancy-associated plasma protein-A (PAPP-A) are independent of the FMF angle, ...
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