نتایج جستجو برای: noninvasive prenatal screening nips
تعداد نتایج: 293051 فیلتر نتایج به سال:
CONTEXT Mutations in the electron donor enzyme P450 oxidoreductase (POR) result in congenital adrenal hyperplasia with apparent combined 17α-hydroxylase/17,20 lyase and 21-hydroxylase deficiencies, also termed P450 oxidoreductase deficiency (PORD). Major clinical features present in PORD are disordered sex development in affected individuals of both sexes, glucocorticoid deficiency, and multipl...
methods genomic dna of cultured s. agalactiae was prepared and loop-mediated isothermal amplification (lamp) primers were designed based on the camp gene in bacteria. the optimum primer set was selected based on the reaction speed and specificity. the reaction result was monitored visually. the sensitivity and specificity of the lamp method were evaluated and compared with polymerase chain reac...
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...
Purpose: To examine combined first trimester screening (FTS), noninvasive prenatal testing (NIPT) and a two-step policy that combines FTS and NIPT in screening for aneuploidy. Materials and Methods: Retrospective study involving 21052 pregnancies where FTS was performed at the Praxis Praenatal.de in Duesseldorf, Germany. In each case, the sum risk of trisomy 21, 18 and 13 was computed. We assum...
BACKGROUND The incidence of sudden cardiac death increases in populations who experience disasters such as earthquakes. The physiological link between psychological stress and sudden death is unknown; one mechanism may be the direct effects of sympathetic arousal on arrhythmias. To determine whether mental stress alters the induction, rate, or termination of ventricular arrhythmias, we performe...
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