Understanding the Role of NIPT in Detecting Rare Genetic Disorders

Non-invasive prenatal testing (NIPT) can help doctors find chromosomal irregularities, like Down syndrome and aneuploidies of the three sex chromosomes (trisomy 21, trisomy 18 and trisomy 13). NIPT will also look for microdeletions on chromosomes which could cause conditions such as Turner syndrome, Klinefelter syndrome and trisomy X and XYY syndromes.

NIPT is a useful tool that can help couples and women make educated decisions regarding their pregnancy. However, the findings of the test could also cause anxiety and stress for some sufferers.


Prenatal Screening for Rare Genetic Disorders

It is a growing testing method to detect chromosomal defects that can cause genetic disorders. It makes use of a portion of mother’s blood for detection of small missing pieces of DNA (microdeletions) on specific areas of the chromosome.

Advanced NIPT tests use technology for sequencing that is able to detect microduplications and deletions. It can also screen for unusual chromosomal disorders, such as certain symptoms that can be syndromic such as DiGeorge syndrome, or deletions on the X chromosome, which can cause Turner and Klinefelter syndromes.

The NIPT test detects Down syndrome, as well as common trisomies, including trisomy 18 (Edwards) and trisomy 13 (Patau). The test can also detect aneuploidies in the X and Y chromosomes, such as Turner syndrome or an XXY (Klinefelter syndrome). NIPT is also able to determine the gender of a fetus when it is in the early stages of the pregnancy.

Non Invasive Prenatal Testing for Rare Conditions

The test is based upon the examination of circulating cell-free embryonic DNA (cff-DNA) found in mother’s bloodstream, can be an option that’s safe and secure to unsafe prenatal tests, such as amniocentesis or chorionic villus sampling. The xet nghiem nipt ha noi procedures carry a 1- percent chance of miscarriage.

The NIPT can detect the presence of aneuploidies. These include trisomies that cause Down syndrome as well as Edwards syndrome, and microdeletions on chromosomes, which can lead to Patau as well as Kleinfelter syndrome. It is also able to determine the gestation period of nine weeks for sex far ahead of ultrasound.

For women whose test results indicate a high risk for a rare condition, the results can be checked by chorionic valus test. However, the test has an extremely low rate of false positive. Additionally, the identification of certain conditions could be made more difficult by a poor number of fetuses or other factors, such as the presence of obesity in mothers or immune disorders that impact the availability of cf-DNA from placentas.

Detecting Rare Genetic Disorders with the NIPT

NIPT currently detects chromosomal anomalies, such as trisomy 21 (Down syndrome), trisomy 18, and trisomy 13, which can be caused by the addition of or damaged copies of certain chromosomes. The test is now beginning to be used to test for genetic diseases that can be result of changes to single genes.

These changes result from minor deletions and duplications within specific parts of the genome. They are among the most easy to identify. Certain advanced NIPTs will also test for uncommon conditions such as Turner syndrome and 22q 11.2 deletion syndrome.

Because of its relatively cheap cost and its noninvasive nature it is feasible to use for LMICs alongside maternal serum screening and ultrasound exams. Implementing this approach requires technological advancement targeted towards low resource settings as well as the training of health professionals in communities who will draw blood and analyze ultrasound images.

NIPT Benefits for Expectant Parents

For pregnant women, NIPT is usually recommended based on Midwifery and OB-GYN guidelines. It is a good idea to contact your insurance provider to learn the extent to which NIPT is covered and what the out-of-pocket costs are.

NIPT is a screening test that can tell whether a person is an increased risk for genetic conditions. However, it can’t detect the disease. In a study from 2016, researchers found NIPT is highly sensitive to trisomy 21 in addition to other issues with chromosomes.

It is also able to detect rare genetic conditions that either are in the family, such as cystic fibrosis or Duchenne muscular dystrophy, or develop at conception, like thanatophoric dysplasia. Until recently, these conditions could only be diagnosed with tests that were invasive, such as amniocentesis, or CVS. NIPT could help avoid these costly tests and boost the probability for a diagnosis that is positive.

Challenges in NIPT for Rare Genetic Disorders

Prenatal screening that is non-invasive (NIPT) analyses fetal cell-free DNA in maternal blood. The procedure has become popular since it can detect aneuploidies in the chromosomes and also determines sexual partners with low risks of miscarriage. NIPT has been improved over the last few years, and it now allows detection of microdeletions greater than 7 MB, and single-gene diseases caused by mutations or the autosomal dominant.

Nevertheless, there is still an enormous amount of research to be conducted in order to improve the accuracy of NIPT. Particularly, PVPs of the various aneuploidies, as well as single gene disorders can differ greatly among studies and patient cohorts which makes counseling difficult.

NIPT is at present too costly for LMICs However, ongoing costs for sequencing are expected to decrease, making the test less costly and easily accessible. Health professionals in communities are in a position to draw blood which means it’s relatively simple for them to implement the NIPT.