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Non-invasive prenatal testing, also known as NIPT, is a kind of prenatal screening that involves taking a simple blood test and analyzing the DNA in that sample to determine whether or not you have an elevated chance of having a child who is born with a genetic disorder. On the other hand, a screening test such as NIPT can only identify the probability that the offspring will develop from chromosomal abnormalities rather than the actual presence or absence of a disorder.
The findings of a NIPT screening may assist you and your specialist in deciding the further measures to take, such as determining whether or not to have a diagnostic test such as CVS or amniocentesis. These genetic tests examine a sample of the fetus's genetic material, either taken from the placenta or amniotic fluid. The results of this examination reveal with absolute certainty whether or not the newborn has a chromosomal disorder. However, both CVS and amnio procedures are invasive techniques.
To be able to detect fetal chromosomal abnormalities, there has to be a sufficient amount of fetal cfDNA present in the mother's circulation. The fetal fraction is the percentage of maternal blood cfDNA originating from the placenta. Typically, the fetal fraction must be more than 4%, which happens during the ninth week of pregnancy. Testing too early might lead to inaccurate results, and low fetal fractions can also be caused by sample mistakes, maternal obesity, and abnormalities in the developing fetus.
NIPT is a cell-free DNA test (non-invasive) that can screen for the following common chromosomal or genetic abnormalities:
The NIPT may be conducted at any time after Nine weeks into your pregnancy, which is sooner than any other fetal screening or examination. In contrast, nuchal translucency screening is performed between weeks 11 and 13. The CVS is performed between 10 and 13 weeks. The quad screen is completed between weeks 14 and 22 of pregnancy.
The NIPT detects more than 99% of instances of Down syndrome and is very sensitive. However, it is still a screening test, not a diagnostic one. This means that rather than providing you with a clear answer, it can merely indicate if there is a higher possibility of having an atypical kid.
Chromosomal microarray analysis, often known as CMA, is a method that has a high degree of sensitivity for detecting submicroscopic aberrations. It is utilized for the identification of microdeletions or duplications that are clinically important. However, it is an invasive technique which requires fetal cells from amniotic fluid or placenta.
CMA has made it possible to find submicroscopic chromosomal abnormalities before a baby is born. These changes can have significant clinical effects, such as making a pregnancy unviable or giving a baby a life-limiting ailment.
After prenatal screening has revealed that the fetus is more likely than not to develop a genetic disorder, testing for chromosomal abnormalities—typically using CMA—can be carried out as part of invasive prenatal fetal diagnostic testing or fetal tissue testing to verify the diagnosis of a chromosomal abnormality.
When doing invasive diagnostic prenatal fetal testing, or when an abnormality has been identified by ultrasound, testing for genetic defects like CMA for fetal diagnosis could be considered clinically essential.