Noninvasive Prenatal Screening (NIPS)

Methods of NIPS
This screening test allows the patient to understand whether there are some risks in their
conditions and the results tell the possibilities or risk scores. To be more specific, some
diagnostic tests, including amniocentesis, give some information that the patients can be
tested for their conditions. In most cases, pregnant women can do some screening tests
soon, and it is more secure than diagnosis. Therefore, this is the first stage of the
diagnosis experience since those patients who are told that they had some high risks in
the diagnosis test have to suffer the invasive diagnostic tests. 
The first and second-trimester screening exams apply the biochemical screening and
ultrasound test. They are often effectuated in the pregnant's body in week 11-13 and 15-
20. However, the essential thing is that both have little chance of losing pregnant; thus,
many parents have to deal with further tests. 
The demand for NIPS happens as the first and second-trimester screening test is not
specific for patients. So, some patients have experienced stressful feelings and some
potential risks. The basic rule of screening tests is to examine and show the high-risk
patients who will take further testing, which does not respond with the traditional
methods. As a result, NIPS was created, and it was told to be exact and sensitive methods
in the application. 
With NIPT, genetic material (DNA) from the baby's placenta, called cell-free fetal DNA
(cffDNA), can be extracted from the mother's blood and tested. NIPT involves using
specialized equipment and software that safely, accurately and cost-effectively analyze a
baby's DNA in the 10th week of pregnancy. Results are sent to the patient's healthcare
provider within a few business days. As a result, doctors and expectant parents can find
out earlier in pregnancy if the chance of developing a genetic disorder is increasing. If the
NIPT result is positive, the patient's physician will recommend the following steps while
considering other clinical findings.
NIPS is a screening test and an opportunity for parents to understand their children are at
risk or not. The exact level of NIPS is undeniable, which helps prenatal screening. This
also supports pregnant women to avoid inconsiderable danger.

Indications of NIPS

The NIPS occurs in the DNA fragments outside the cell, and these fragments can be
discovered in everyone’s blood. The second place that NIPS happens is some pieces of
DNA in the pregnant women including their DNA and the pieces of placental DNA,
which is believed to begin from the cytotrophoblast than the inner mesenchymal layer.
Also, the proportion of DNA fetal explored in the pregnant mother’s blood is called the
fetal fraction, ranging from 3 per cent to 13 per cent in the cfDNA. The success of NIPS
relates to the fetal fraction, requiring the minimum percentage is 2% and 4%. The lower
the fetal fraction is, the less successful NIPS is.

Every patient should opt the fetal aneuploidy screening or diagnostic testing.
NIPS since these tests are more suitable than utrasound or serum marker screening.
However, some patients choose to refuse this method. Before that, they will be instructed
to give clear decisions consisting of risks, advantages and alternative approaches.
Sometimes, the positive results do not mean that the pregnant is affected, or there will be
some false-negative results. It also has the danger of congenital disability although they
took the testings. Afteting examing, genetic advice should be provided immedidately,
particularly if the patients have the “positive results” with NIPS or standard test.
Moreover, the patients are recommended not to try all the aneuploidies and be informed
that NIPS has a function to test the sex aneuploidies. The most important thing is to tell
the patients about the merits and dangers of taking a screening and diagnostic test,
especialy for parents who want to know more about their children’s genetics. The more
opportunities for those who have the false positive and false negative than common
aneuploidies of NIPS.

Application of NIPS
NIPS used some bioinformatics algorithms and generation sequencing to investigate the
DNA fragment that originates from the samples. According to SNP, bioinformatics
algorithms connect the danger from the individual nucleotide to distinguish the selection
and placental DNA fragments. SNP is the only method that can indicate the zygosity and
fetal fractions in twins cases, depending on the laboratory).
The quantification method is performed by defining the numbers of DNA from
chromosomal areas through bioinformatics algorithms. For instance, when there is too
much chromosomal DNA, the positive results of T21 will be formed.
The most considerable benefit of NIPS for the future parent is the security and time. The
time let them think, recount and assess theirs opts to get more information, determine
their future and administer the clinic care depended on the announcements.
https://www.obgproject.com/2020/08/25/professional-guidance-on-the-role-of-nips-as-a-
first-tier-screening-test/
https://nipd.com/articles/blog/non-invasive-prenatal-screening-methods/