Most of genetic disorders may not cause the newborn with severe defects or immediate damages. However, these genetic disorders could be reasons of diseases occurred during newborns development which even lead infants to sudden death.
According to the statistics, about 70% birth defects can be treated or be relieved from severe symptoms through screening and diagnoses at early stage for prompt healthcare and treatment.

Therefore, with Newborn genetic screening, neonatal genetic disorders can be identified earlier. Through early intervention and better healthcare for infants, related diseases and adverse effects can be prevented and relieved.

■ Is SOFIVA Baby Scan necessary if Newborn Metabolic Screening has been applied?

Newborn Metabolic Screening, a test based on screening metabolite in baby's blood, is performed to identify certain metabolic disorders in newborn. SOFIVA Baby Scan is taking step further, providing a panel detecting twelve main categories of disease in newborn by screening mutation in disease-related DNA.

Due to screening method variance, a much comprehensive test result can be provided in combination of Newborn Metabolic Screening with SOFIVA Baby Scan. Furthermore, SOFIVA Baby Scan offers a full-scale screening panel, including tests of metabolic disorders, drug hypersensitivity reaction and hearing loss, etc. for thorough healthcare to our beloved babies.

■Preventing Drug Hypersensitivity Reaction

Prevent hypersensitivity reaction of drug by testing related genes

■Screening

Genetic disorder screening for infants without obvious symptom

■Auxiliary Diagnosis

Auxiliary diagnosis of newborn metabolic screening

■Determine Diseases

Determine causes of unidentified newborn disorder

SOFIVA Baby Scan is based on Next Generation Sequencing (NGS) technology, screening genes related to multiple categories of disease at once. SOFIVA Baby Scan can assist in identifying genetic abnormalities of related disorders and drug hypersensitivity reaction for infants or newborns without obvious symptom. Meanwhile, it also provides auxiliary aids to diagnosis for newborns identified with disorders from newborn screening. For infants with onset symptoms, the causes of disease can be determined and early intervention can be provided through SOFIVA Baby Scan.

List of Genes & Disorders：

SOFIVA Baby Scan

STEP1：Physicians/Nurses explain procedures and contents

STEP2：Fill out the consent form and collect blood samples from newborns' heel prick

STEP3：Sample delivered to SOFIVA Genomics

STEP4：Processing and data analysis

STEP5：Report completed in 10-15 working days

*Please consult with physician for appropriate clinical solution and information.

■ What is the gene related to Drug Hypersensitivity Reaction (DHR)?

Several genetic disorders may cause newborns with drug hypersensitivity reaction to specific drugs. These severe reactions may lead to Malignant hyperthermia or Steven-Johnson syndrome.

SOFIVA Baby Scan included genes related to medication to epilepsy, aspirin, antibiotics, anesthesia which enable to prevent adverse drug hypersensitive reaction from using relative medicine.