نتایج جستجو برای: 21 trisomy
تعداد نتایج: 251021 فیلتر نتایج به سال:
Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population.
OBJECTIVE We sought to assess performance of noninvasive prenatal testing for fetal trisomy in a routinely screened first-trimester pregnancy population. STUDY DESIGN This was a cohort study of 2049 pregnant women undergoing routine screening for aneuploidies at 11-13 weeks' gestation. Plasma cell-free DNA analysis using chromosome-selective sequencing was used. Laboratory testing on a single...
We present preliminary results of a cross-sectional study which had the following objectives: 1--to develop percentile curves of weight, height and head circumference of Portuguese children with Trisomy 21 from 0 to 48 months of age; 2--a comparison of the growth of children with Trisomy 21 with a control population of their siblings, and 3--a comparison between the growth of Portuguese and Ame...
The aim of this study was to examine if isolated fetal ventricular septal defect (VSD) is associated with trisomy 21. One hundred twenty six cases with prenatal VSD diagnosed by a pediatric cardiologist were reviewed. Cases with known risk factors for congenital heart disease, the presence of other major anomalies, soft signs for trisomy 21 or a positive screen test for trisomy 21 were excluded...
OBJECTIVE The objective of this study is to assess the performance of noninvasive prenatal testing for trisomies 21 and 18 on the basis of massively parallel sequencing of cell-free DNA from maternal plasma in twin pregnancies. METHOD A double-blind study was performed over 12 months. A total of 189 pregnant women carrying twins were recruited from seven hospitals. Maternal plasma DNA sequenc...
OBJECTIVE To determine the relationship between trisomies 13, 18, and 21 and craniofacial malformations detected by prenatal sonography. DESIGN During a 29-year period (1976 through 2004), prenatal sonographic findings of 69 fetuses with trisomy 13; 171 fetuses with trisomy 18; 302 fetuses with trisomy 21; and 17 fetuses with other trisomies were evaluated retrospectively, after fetal karyoty...
Trisomy 21 is the most common reason that women opt for prenatal diagnosis. Conventional prenatal diagnostic methods involve the sampling of fetal materials by invasive procedures such as amniocentesis. Screening by ultrasonography and biochemical markers have been used to risk-stratify pregnant women before definitive invasive diagnostic procedures. However, these screening methods generally t...
Somatic and visceral growth profiles of midgestation human fetuses with trisomy 21, 18, or 13 demonstrate that each disorder has a characteristic pattern of growth aberration. The most striking deviations are short limbs in trisomy 21, subnormal adrenal and lung weights in trisomy 18, and supranormal spleen and kidney weights in trisomy 13.
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