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SOFIVA NIPS v1.0 / v2.0 / v3.0


SOFIVA NIPS detect common chromosome abnormalities, selected microdeletions syndromes and selected skeletal dysplasia genetic mutations

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Introduction


An Innovative Test! SOFIVA NIPS, More Comprehensive, Safer, and Better.



According to official statistics, more than 40,000 expectant mothers in Taiwan choose to undergo amniocentesis every year. Based on the average rate of miscarriage after amniocentesis, which is 1 ‰-3 ‰, amniocentesis may cause unnecessary complications such as rupture of membranes, uterine contractions, bleeding, infections, forced long-term tocolysis, premature birth, and even miscarriage in 40 to over 120 healthy babies each year. Mothers dying of sepsis following amniocentesis have also been reported. Moreover, the detection rate of conventional Down Syndrome screening using maternal blood during the first and second trimesters is only between 80% and 90%, which means that on average, one out of ten expecting mothers who take this conventional screening test will get an inaccurate result.



SOFIVA NIPS Provides Better and Safer Alternatives



◆Avoid the risks of miscarriage, premature birth, tocolysis, and infection caused by amniocentesis.



◆Near 99.5% detection rate for Down Syndrome, and provides selective additional results of specific single gene disorders that are not covered by chromosomal microarray analysis.



◆Test can be taken as early as 10 weeks pregnant and the results are available in 8 working days.


Indication


Expectant mothers at over 10 weeks of pregnancy

Description


SOFIVA Provides Better and Safer Alternatives



1. Avoid the risks of miscarriage, premature birth, tocolysis, and infection caused by amniocentesis.



2. Near 99.5% detection rate for Down syndrome, and provides selective additional results of specific single gene disorders that are not covered by chromosomal microarray analysis.



3. Test can be taken as early as 10 weeks pregnant and the results are available in 10 working days.


Patient Story


A study published in August 2018 randomly divided over 2,000 expectant mothers from 57 medical institutions in France into two groups. The first group was directly subjected to amniocentesis while the other group took a NIPS test. If the NIPS results in the latter group indicated high risk for chromosomal abnormalities, they underwent amniocentesis; if not, they did not undergo any further invasive testing. Among the expectant mothers in the NIPS group whose results showed high risk, 28 chromosomal abnormalities were discovered following subsequent amniocentesis: 27 with Down syndrome and 1 with other chromosomal abnormality. As a result, over 700 unnecessary amniocentesis procedures were avoiding by using NIPS without lowering the detection rate.

How It Works


1. Fill out the consent form after consulting with a doctor.



2. 10ml of blood sample is collected from the expectant mother.



3. The test is performed in SOFIVA, Taiwan.



4. Report is produced in 8 working days.


Others


Terms and Conditions:


1. Revealing the gender of the fetus is prohibited in the NIPS report according to regulations by the Ministry of Health and Welfare.


2. SOFIVA NIPS focuses on abnormal numbers of chromosomes as well as the microdeletions and single-gene pathogenic loci listed in the table. Not all numerical and structural abnormalities can be detected. Microdeletions less than 2 Mb in size as well as highly repeat regions are not included in NIPS v2.0 and v3.0.


3. The result of SOFIVA NIPS may be affected if the mother has chromosomal aneuploidies, specific microdeletions, specific genetic mutations, or a blighted ovum.


4. For details regarding free confirmation, please refer to the terms and conditions on the consent form.


5. Approximately 70% of cases of Prader-Willi Syndrome or Angelman Syndrome are caused by microdeletions, while the remaining 30% are caused by uniparental chromosomes and specific gene mutations.