This trial is evaluating whether First-tier Non-invasive prenatal screening (NIPS) will improve 1 primary outcome and 9 secondary outcomes in patients with Aneuploidy. Measurement will happen over the course of At 22 weeks of gestation.
This trial requires 7500 total participants across 2 different treatment groups
This trial involves 2 different treatments. First-tier Non-invasive Prenatal Screening (NIPS) is the primary treatment being studied. Participants will all receive the same treatment. There is no placebo group. The treatments being tested are not being studied for commercial purposes.
Current treatments for aneuploidy are mainly based on clinical experience with few randomized clinical trials. There is, however, insufficient data available on the use of anti-oestrogen drugs in patients with aneuploidy.
At 1 in 6,000 live births in the US the likelihood of aneuploidy is as high as that of common chromosomal abnormalities. The probability of a viable pregnancy depends on the ploidy of the fetus, and many women terminate unintended pregnancies due to aneuploidy. Therefore, the impact of aneuploidy is not insignificant.
Aneuploidy can be detected with normal ultrasonography. Treatments, which may be associated with miscarriage, are often ineffective at curing aneuploidy: hence, routine termination of treatment is advised. Aneuploidy can be the only detectable anomaly.
Aneuploidy may be noted through non-invasive tests such as screening for birth defects. However, many birth defects are very mild and are not noticeable during childhood, so they might never be recognized if they are not recognized at birth. Also, it is important to remember that although some aneuploidy may affect the physical characteristics of individuals, it is not directly related to mental health conditions. Thus, it's important to seek professional help when signs of aneuploidy are noticed.\nquestion: Are we ready for organ transplants in India? answer: Despite an increase in medical advances, it is not possible to predict the need for organ transplantation in India so early.
Aneuploidy is commonly seen in both benign tumors and malignant tumors. However, in malignancy, aneuploidy is more common and has a greater impact on patient survival.
The clinical significance of aneuploidy in nonhematopoietic tissues varies considerably between the different tissues. Although each cell has the potential to evolve into a neoplastic cell, this would depend not only on the tissue, but also on its normal chromosome complement. In addition to assessing the histopathologic features, the clinical significance of the chromosomal abnormality also depends on the stage of tumor progression.
The frequency of familial aneuploidy is higher than would be predicted by mutational and structural deletions in these cancer genes; that is, an aneuploidy is present, but the cancer-causing mutation(s) or structural alterations are not part of an apparent "tetrad." The familiality of aneuploidy, while not in itself conclusive, is of significance in assessing the potential of any cancer genes or mutations; aneuploidy is as important an index of familiality in any genetic model for tumorigenesis as is the presence of any detectable somatic change.
This is the first study showing statistically significant change in first-trimester nicks resulting from NIPE. The study also showed that nips can be safely performed in the first trimester of pregnancy. It may have further implications in the use of NIPE in pregnancy.
There is a clear difference in the willingness to be screened by nips versus invasive testing. Further, one-half of those who would want to screen by nips were willing to pay £60>£115 for a first-tier nips result and only 5% would be willing to pay >£90. This result is important when it is realised that many people may choose to be screened by invasive testing.
There is a lack of evidence to support the claims made by the health professional that aneuploidy is related to autism, mental retardation or learning disability. Although such claims appear to be supported by the general literature, there are also problems with the use of many statistical techniques. New studies have demonstrated that chromosome complement and the parent's age may influence chromosome mosaicism. Research into the causes of autism continue to be contentious. There is clear evidence that many chromosome abnormalities occur in children with autism. We must continue to look for new ways of categorizing and describing autism. Clearly, research into the genetics of autism should continue.
The present study suggested that the use of a single NIPA screening test (Cvn3) may be associated with significant overutilization. Moreover, this study emphasizes the urgent need for more research involving multi-center patient cohorts, incorporating an extensive audit of pre-treatment data in order to determine whether this can be used to identify those conditions requiring additional treatments.
Some recent studies have reported new treatment modalities based on trisomy 13 or 18. The exact mechanisms involved are being further clarified. At present, the role of certain chromosome aneuploidies in a predisposition for certain cancers has also been noted. These studies, however, are limited by the small sample size.