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Bio B2BSofiva Genomics 〉Newborn genetic screening

Newborn genetic screening

Newborn genetic screening

We developed an easy way to detect certain genetic diseases, for example, congenital central hypoventilation syndrome (CCHS) or sensorineural hearing loss, by using neonatal heel blood at the very beginning of their lives.

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We developed an easy way to detect certain genetic diseases, for example, congenital central hypoventilation syndrome (CCHS) or sensorineural hearing loss, and congenital infections like CMV by using neonatal heel blood at the very beginning of their lives for good outcomes by medical intervention as early as possible.
  1. Every year, between 600 and 2,000 newborns in Taiwan are diagnosed with sensorineural hearing loss (i.e. between 1% - 3% of all newborns in Taiwan). However, over 90% of parents of affected newborns have normal hearing. Without early discovery and active follow-ups, an affected child may not receive adequate auditory stimuli during the critical language acquisition period, which can affect language learning, perceptions, communication, and development of social interaction skills.  
  2. Some babies that display no apparent neuromuscular or lung problems while awake may suffer decreased respiratory rates or even stop breathing when sleeping. In these babies, shortness of breath can cause hypoxia or even sudden death. Research has shown that congenital central hypoventilation syndrome (a congenital defect) is caused by a mutation in the PHOX2B gene and abnormal multiplication of the GCN sequence from the normal 20 times to somewhere between 24 and 33 times. This leads to congenital nervous system disorders and causes affected individuals to lose the automatic breathing response that occurs when blood contains high concentrations of carbon dioxide and low concentrations of oxygen.
  3. CMV infections are one the most common types of infections in Taiwan. The vast majority of infected individuals do not display any visible symptoms but become carriers for the rest of their lives and may transmit the virus to other people. CMV poses an extreme threat to unborn babies. If the mother was infected with CMV prior to becoming pregnant, then they will likely have antibodies that can protect their babies. In this case, CMV is less of a problem, and most babies will be born normal and grow up healthy. However, if the mother contracts her first CMV infection during pregnancy, then she will not possess CMV antibodies. In this case, there is a chance of vertical infection, which can cause many serious problems for the baby, including death within several days or weeks. These symptoms may appear at birth or years later and gradually deteriorate.
With advances in medical technology, genetic testing has become a powerful tool for clinical assessment. Genetic tests can help parents:
  • understand actual pathogenic mechanisms
  • effectively predict the effects of different treatment therapies or surgical methods
  • adopt appropriate preventive measures to prevent further degeneration
  • obtain an early hearing loss diagnosis so that suitable treatment can be planned in order to help the child develop normally during the critical language acquisition period
  • understand whether they should seek genetic counseling and preimplantation genetic diagnosis (PGD) to prevent future babies from being born with hearing loss
This year, the three-gene, four-point screening test previously employed by SOFIVA has been upgraded to screen for 80% of all common mutations in Taiwan. New test items include OTOF, another gene commonly associated with pathological changes in auditory nerves. Now, four genes and six points are screened efficiently by a single screening test for greatly increased protection.
We suggest that the screenings be performed alongside routine tests that screen for congenital metabolic disorders so that the baby can receive extra protection without needing to undergo additional needle-related procedures.

The congenital CMV samples must be collected from newborn babies who are not more than 2 weeks old.
  • The only way to distinguish congenital intrauterine infections from postnatal infections is to test the blood for viral DNA within two weeks of birth. After more than two weeks, it becomes difficult to differentiate between these types of infections.
Suitable for:
  • Mothers who want to know if their babies get congenital central hypoventilation syndrome (CCHS) or sensorineural hearing loss
  • Mothers who have not taken a CMV infection screening test before
  • Mothers who took a CMV infection screening test before they became pregnant or during their pregnancy and received negative results, but who may have come into contact with CMV since then
  • Mothers who were previously infected with CMV and are worried about vertically transmitting the virus to their babies
  • Mothers who are babysitters, kindergarten teachers, nursing personnel, or work in a field that puts them at greater risk of contracting a CMV infection
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