Introduction
■ Carrier parents: The hidden crisis that must not be ignored
The CARRIER of a recessive genetic disease does not have the disease or symptom thereof. But if both of the parents have a mutated gene of the same recessive genetic disease, there is a one quarter chance of giving birth to a critically ill baby, endangering the life and health of the mother-to-be or fetus.
■ Test multiple genes at one time to assess the occurrence of recessive diseases
According to the statistics, each person carries 2.8 genes of recessive genetic disease in average and 20% of neonatal deaths are related to severe recessive genetic diseases. SOFIVA Genomics therefore uses the latest Next Generation Sequencing (NGS) to test multiple genetic mutations to largely reduce the risks of recessive genetic diseases.
◆ v1.0 Genetic diseases that require screening as guided and suggested by international societies
As guided and suggested by both international societies (ACOG and ACMG), all pregnant women and women who are preparing for pregnancy should take a carrier screening. The basic v1.0 test that targets 6 recessive genetic diseases with a high carrier rate across all races will be the global trend.
◆ v2.0 Severe diseases with a high carrier rate
According to the statistics of Biobank, about 20% of Asian people have the genes of a recessive genetic disease. The v2.0 test therefore targets 53 diseases that are related to neonatal metabolism or have a high carrier rate to decrease the risk of future babies suffering from recessive genetic diseases.
◆ v3.0 Important genetic carrier diseases around the world
As multiracial integration is very common in the era of global village, SOFIVA Genomics’ v3.0 test targets 341 recessive genetic diseases, which cover 14 major categories of diseases and are applicable to all races around the world, to fully support the parents-to-be with the most complete disease control, enabling them to welcome the arrival of a healthy baby.
Indication
Suitable for people who:
1. are currently pregnant or planning a pregnancy
2. are planning to donate sperm or eggs
3. have a high consanguineous marriage (see Note 1)
4. have a family history of a genetic disease (see Note 1)
5. would like to confirm whether they are carriers of genetic diseases
Note 1: Please consult your doctor or genetic counselor if the SOFIVA Carrier Scan is right for you.
Note 2: Pathogenic mechanisms of all diseases are complex, and testing technologies are not without limitations. Therefore, the genetic testing offered by SOFIVA may not reveal all possible diseases or the circumstances which gave rise to them. For information regarding reconfirmation in the event of results indicative of genetic abnormalities, please read the terms and conditions provided in the consent form.
Description
Next Generation Sequencing (NGS) [exome sequencing*]+ Capillary Electrophoresis Analysis
* This screening is carried out by targeting the pathogenic locus of specific autosomal recessive single-gene diseases. As the pathogenesis of some diseases is rather complicated and the testing technique has its limits, it is impossible to exclude all risks of suffering from the diseases. For detailed information, please read the clauses of the Agreement carefully.
* Exome sequencing: The important region in a gene can be translated into proteins and regulate physiological functions. Most of gene mutation occurs in this region and result in the formation of disease.
List of Genes & Disorders：
Patient Story
■ International Guideline Recommendations
To effectively decrease the probability of birth defects caused by single gene abnormality, American College of Obstetricians and Gynecologists
(ACOG) and American College of Medical Genetics and Genomics (ACMG) suggested, all couples who plan to give birth or already got pregnant should take "carrier screening" for various serious disorders before the pregnancy or birth. The purpose thereof is to understand the genetic disease genes carried on both sides and to further decrease the risk of having an infected baby.
How It Works
1. Fill out the consent form after consulting with a physician 2. Collect a blood sample from the patient 3. The test is performed in SOFIVA, Taiwan 4. Report is produced in 15 working days 5. Arrange the patient's return for test interpretation
Others
Q：Which people need to take carrier screening?
A：Couples who plan to get pregnant or already got pregnant should plan to take a carrier screening test. Besides, couples in the following circumstances should pay particular attention to the importance of carrier screening:
◆ Consanguineous couple
◆ Have a family history of genetic disease
◆ With donated sperm or egg
Q：What should the couple do if the test report is positive?
A：Please confirm if the couple has mutated genes of the same genetic disease:：
◆ If the mutated genes are of different genetic disease, the risk of having a baby with the associated disease is very low.
◆ If the mutated genes are of the same genetic disease, the ris k of having a infected baby is very high. Please take professional genetic counselling accordingly as it is obligatory.