نتایج جستجو برای: sex chromosome aneuploidy
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Correspondence: Dr. C.A. Ionescu e-mail: antoniuginec@ yahoo.com After numerous clinical validation studies, non-invasive prenatal testing for fetal aneuploidy detection is now a clinical reality. While non-invasive prenatal testing was accepted due to the high accuracy for fetal trisomy (21, 18 and 13) detection, recent research showed that genome-wide analysis is able to detect other fetal an...
Abstract Objective To assess the positive predictive value (PPV) of noninvasive prenatal testing (NIPT) as a screening test for sex chromosome aneuploidy (SCA) with different maternal characteristics and decisions in cases. Materials methods We retrospectively analysed 45,773 singleton pregnancies that were subjected to NIPT Maternity Child Health Hospital Anhui Province. The results validated ...
A limited body of data over the past 35 years has suggested that autoimmunity may be responsible for some cases of aneuploidy. The role of diabetes mellitus in the etiology of chromosomal anomalies has been infrequently studied. This study was designed to compare the prevalence of chromosome abnormalities among the offspring of women with gestational diabetes and the offspring of women without ...
Chromosome abnormalities occur with astonishing frequency in humans, being present in an estimated 1030% of all fertilized eggs. Of the different classes of chromosome abnormality, aneuploidy (trisomy and monosomy) is by far the most common and, clinically, the most important. For example, over 25% of all miscarriages are monosomic or trisomic, making aneuploidy the leading known cause of pregn...
abstract background: mosaic form of turner syndrome that represented by two or more cell lines in an affected individual, often has limitation for detection with classical cytogenetic methods. the present study was carried out to compare the efficiency of interphase fluorescence in situ hybridisation (fish) and cytogenetic techniques in detection of mosaic form of turner syndrome. methods...
Benzene is a primary industrial chemical and a ubiquitous environmental pollutant that causes human leukemia and maybe other malignancies. Occupational exposure to benzene has been associated with increased chromosomal aneuploidies in blood lymphocytes and, in separate studies, in sperm. However, aneuploidy detection in somatic and germ cells within the same benzene-exposed individuals has neve...
OBJECTIVES To determine the underlying biological basis for noninvasive prenatal testing (NIPT) results of multiple aneuploidies or autosomal monosomies. METHODS Retrospective analysis of 113,415 tests to determine the study cohort, consisting of 138 (0.12%) cases reported as a single autosomal monosomy (n = 65), single trisomy with a sex chromosome aneuploidy (n = 36), or with multiple aneup...
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