نتایج جستجو برای: 21 trisomy
تعداد نتایج: 251021 فیلتر نتایج به سال:
OBJECTIVE To examine the association between maternal serum levels of thyroid stimulating hormone (TSH) and free β-human chorionic gonadotrophin (free β-hCG) in trisomy 21, trisomy 18 and euploid pregnancies at 11-13 weeks and investigate the potential value of TSH in first-trimester screening for aneuploidies. METHODS Maternal serum TSH and free β-hCG levels at 11-13 weeks in 25 trisomy 21 a...
BACKGROUND The pathologic features of Down syndrome are assumed to be the result of over-expression of genes located on chromosome 21 and/or a more global transcriptional misregulation that crosses chromosomal borders. METHODS To address this issue, four RNA samples from trisomy 21 placentas and four samples from normal first trimester pregnancies were analyzed using Affymetrix U95v2 microarr...
OBJECTIVES To validate the clinical efficacy and practical feasibility of massively parallel maternal plasma DNA sequencing to screen for fetal trisomy 21 among high risk pregnancies clinically indicated for amniocentesis or chorionic villus sampling. DESIGN Diagnostic accuracy validated against full karyotyping, using prospectively collected or archived maternal plasma samples. SETTING Pre...
Approximately 5% of children with Down syndrome (DS) are born with a unique transient clonal megakariyo-erythroblastic proliferation disorder often called transient myeloproliferative disorder (TMD). Spontaneous recovery usually occurs within up to several months. However, about one-fifth of these patients will develop full-blown acute leukemia with biphenotypic megakaryocyticerythroid features...
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