chromosomal abnormalities, what are they? The chromosomal abnormalities are alterations in the number or structure of chromosomes . The chromosomal abnormalities are responsible for approximately 50% of miscarriages and birth defects are a major cause. The numerical abnormalities of chromosomes, which are also called aneuploidy, are characterized by more or less compared to the standard number of chromosomes. Specifically, the trisomy is a 'genomics anomaly, characterized by the presence of a chromosome more.
anomalies belong to this group of diseases known as Down syndrome or trisomy 21, where, in the most common form, the individual has 47 chromosomes, which has an extra copy of chromosome 21. Trisomy 13 is called Patau syndrome and trisomy 18, Edwards syndrome.
Regarding the other hand, the sex chromosomes, there are variations in the number of chromosomes X and Y are called sexual aneuploidies.
In a healthy male XY chromosomes are in a healthy female XX, in pathological situations may arise surplus (in excess or more), as in the case of Klinefelter's syndrome in which the chromosomes are XXY, XXX, XYY, or deficient in number-less-as in Turner's syndrome in which there is a only one X chromosome and one speaks of monosomy.
recent epidemiological studies confirm, unequivocally, that the incidence of chromosomal disorders is highly dependent on advanced maternal age (considering age, over 35 years at the time of conception).
What is Quick test Amniocentesis?
is a rapid test to screen for trisomy 21, 18, 13 and aneuploidy of the sex that is performed on samples of amniotic fluid.
is based on the QF-PCR (Quantitative Fluorescence Polymerase Chain-Reaction) or a molecular biology technique that is used for the diagnosis of many genetic diseases. The Quick Test Amniocentesis alongside the traditional cytogenetics (FISH). Unlike these methods, it requires small amounts of material obtained through sampling of amniotic fluid and minimize the waiting time of the report.
Genetic testing is performed on samples of amniotic fluid, but also babies, in this case the test sample is a Champion Oral (or saliva), which allows a levy less intrusive and less annoying.
Kriagen for Quick Test Amniocentesis uses the QF-PCR kit ANEUFAST certified IVD / CE, ISO 13485:2003 www.aneufast.com .
The kit was developed as a preliminary investigation to conventional cytogenetic investigation. It has a 93% power to detect aneuploidy of chromosomes examined. Could not show any abnormalities due to mosaicism and structural arrangements (7% of cases of aneuploidy) involving chromosomes analyzed.
Why choose amniocentesis Fast?
amniocentesis Quick differs dall'amniocentesi classic as less risky and less troublesome, the levy is only 3 ml and the result you are working in only 4 days. It is less laborious and less susceptible to contamination by maternal cells. The Quick Test Amniocentesis
proposed by Kriagen presents an important step forward in molecular diagnostics, recent studies, a total of more than 43,000 samples analyzed, demonstrated the validity of the molecular method compared to conventional cytogenetic analysis (FISH ). In many European countries test Amniocentesis Quick came to be part of routine analysis, considering that in Sweden, over 70% of pregnant women opt for the (rapid diagnosis) QF-PCR instead of the cytogenetic diagnosis. (Cirigliano et al 2009). The speed of execution of the amniocentesis Quick allows to minimize the waiting time of the report: the ability to exclude a chromosomal disorder in a few hours after collection can help eliminate maternal anxiety, and in positive cases, allows the mother to agree with your doctor, in advance, a 'possible therapeutic intervention. The Quick Test Amniocentesis allows for screening for single trisomy (between 21, 18, 13 or the sexual aneuploidy) or the complete screening of all 5 aneuploidy. Recall that by expanding the panel sought diseases, increases the mother's level of calm. It is also important to note that the choice full screening of all 5 aneuploidy does not affect the duration of the investigation and then the report will always be obtained within 4 days.
also Kriagen offers the ability to run on the same sample of amniotic fluid also Prenatal Paternity Test. This thanks to the instrumental equipment available that allows you to work on small quantities of sample and reliable results and have some soon. Response times for prenatal paternity test is the same test Amniocentesis Fast.
The Quick Test Amniocentesis requires a technical time of about six hours, so, parents can know very quickly whether or not there are anomalies cromosomiche.Il test is recommended as first:
- Quick Survey to all pregnant women;
- on women's age or special conditions are considered at risk.
- In cases of suspected disease in infants.
Why do the DNA test Amniocentesis at Kriagen Fast.
- To get a reliable answer in 4 days.
- For added peace of mind during pregnancy.
- order to decide quickly on the decision-making. Why
- from the same sample can also run the Paternity Test Prenatal .
- Because you only pay 50% of the order and the balance on delivery of results. Why
- tools, methods and kits are used by Kriagen certified for Forensic.
- Why do everything from home in total privacy. Why
- Drawing Kit is Included in Cost.
- Why have the third Test Kriagen guarantees.
- Because scientific and technical support is free.
on samples which ran the Quick Test Amniocentesis?
The test is performed on amniotic fluid. The levy will be carried out by specialist (usually between the 16th and the 18th week of pregnancy) and are sufficient only 3 ml of amniotic fluid; In cases of suspected disease in infants can be assayed by a simple Sample Oral (or saliva), thus avoiding invasive sampling. Kriagen provides phone support and agree on the technical aspects of collection, storage and shipment of biological samples with your doctor. The Drawing Kit is a special packaging, according to current regulations for the transport of No. 1 tube 3ml fluids.
You can also run on the same sample of amniotic fluid also Prenatal Paternity Test. In this case the sample of amniotic fluid plus samples of parents (Sample oral or saliva) . Here you can find a list of Professional Partners.
You can also run on the same sample of amniotic fluid also Prenatal Paternity Test. In this case the sample of amniotic fluid plus samples of parents (Sample oral or saliva) . Here you can find a list of Professional Partners.
Guarantees and Times
testing and results are provided by third Guarantees, except the repetition of the test in case of unsuitable samples. This is related to the inability to make a second amniocentesis.
The outcome of the examination is available after 4 days of receipt of samples, the notice may be given in different ways chosen by the customer. The choice of more tests does not affect the duration of the investigation and therefore the report will always be obtained within 4 days. You can also request a Quick Test Service allows you to receive test results within just 2 working days from receipt of samples.
All tests will be conducted in full compliance with the privacy of those involved.
post by www.Kiragen.it
here the Quick Test Amniocentesis
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