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To assess the value of non-invasive prenatal testing (NIPT) for the identification of fetal chromosomal aneuploidies.
This article was published in the following journal.
Name: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
To investigate the attitudes of parents of children with a sex chromosome aneuploidy (SCA) regarding the impact of an early diagnosis and NIPT.
To investigate decision-making among pregnant women when choosing between non-invasive prenatal testing, invasive testing or no further testing.
To evaluate the impact of introduction of non-invasive prenatal testing (NIPT) on the uptake of invasive testing in pregnancies complicated by fetal central nervous system (CNS) anomalies.
To assess the performance of non-invasive prenatal testing (NIPT) in screening sex chromosome aneuploidy (SCA), and explore prenatal decision-making in NIPT positive cases.
Fetal fraction and the chromosome representation are the two key quantities used in Non-Invasive Prenatal Screening (NIPS) to determine the aneuploidy status of a fetus. Several methods for fetal frac...
This project aims to provide high- quality evidence to inform decisions by health care organisations about using first-tier non-invasive prenatal screening (NIPS) to replace traditional sc...
To establish a genotyping and extraction technology of non invasive prenatal diagnosis for fetal blood group genotype from cell-free fetal DNA in peripheral blood of pregnant women. To ac...
The risk of abnormal chromosome and structure is much higher in twins than in singletons, and traditional early pregnancy screening strategy for single pregnancy is not suitable for twins....
In France, as in many countries of the world, trisomy 21 or Down syndrome (DS) is the subject of an antenatal screening based on a risk calculation (R) including the assay of biochemical m...
Noninvasive prenatal genetic testing (NIPT) is an important new screening test option provided to pregnant women in the first trimester of pregnancy. The advantage of this screen is that i...
Prenatal interventions to correct fetal anomalies or treat FETAL DISEASES in utero. Fetal therapies include several major areas, such as open surgery; FETOSCOPY; pharmacological therapy; INTRAUTERINE TRANSFUSION; STEM CELL TRANSPLANTATION; and GENE THERAPY.
Detection of or testing for certain ALLELES, mutations, genotypes, or karyotypes that are associated with genetic traits, heritable diseases, or with a predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
A prenatal ultrasonic measurement of the thickness or translucent area below the SKIN in the back of the fetal NECK, or nape of the neck, during the first 11-14 weeks of gestation (PREGNANCY TRIMESTER, FIRST). Abnormal thickness or nuchal translucent measurements resulting from fluid collection, is associated with increased risks of CHROMOSOME ABNORMALITIES. (Nicolaides et al., 1992)
A clear, yellowish liquid that envelopes the FETUS inside the sac of AMNION. In the first trimester, it is likely a transudate of maternal or fetal plasma. In the second trimester, amniotic fluid derives primarily from fetal lung and kidney. Cells or substances in this fluid can be removed for prenatal diagnostic tests (AMNIOCENTESIS).
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...