Newborn Screening for 7 Core Conditions with the VICTOR™ 2D System

Early Detection – Timely Intervention – A Healthier Future

In the earliest days of life, newborns may carry silent congenital disorders that are not yet clinically visible. Many of these are genetic, metabolic, or endocrine in nature and—without timely diagnosis—can lead to severe developmental delays, neurological damage, or even fatal complications. Newborn screening is a well-established and scientifically validated method to identify these conditions early and enable life-saving interventions.

At SISC, we offer a comprehensive solution for screening seven of the most common newborn disorders in Vietnam, delivered through the VICTOR™ 2D semi-automated fluorometric platform—a globally trusted system installed in hundreds of laboratories worldwide. This solution is ideal for medium and small-sized hospitals or labs initiating or expanding their screening capabilities, with three guiding principles: cost-efficiency, workflow simplicity, and clinical reliability.

1. G6PD Deficiency

G6PD deficiency is a relatively common inherited disorder, affecting 1 in every 100–200 newborns, with particularly high rates in parts of Asia. In Vietnam, it is more prevalent in certain ethnic communities such as the Muong, Thai, and Dao. Caused by a mutation in the G6PD gene on the X chromosome, the disorder results in insufficient enzymes to protect red blood cells from oxidative stress. Affected infants may show no clear symptoms at first but can later develop serious conditions like severe neonatal jaundice or acute hemolytic anemia after exposure to certain medications (e.g., sulfonamides, aspirin), foods (e.g., fava beans), or infections.

Treatment mainly involves avoiding triggering factors, administering blood transfusions when needed, and phototherapy for jaundice. Early detection and proper care can help affected children grow up healthy.

• Test Kit: Neonatal G6PD Kit (Code: ND-1000) – 960 tests
• Method: Fluorescence-based enzyme quantification from dried blood spots via the oxidation of glucose-6-phosphate into 6-phosphogluconate and simultaneous reduction of NADP to NADPH. Fluorescence is measured at 355 nm (excitation) and 460 nm (emission).
• Equipment: VICTOR™ 2D with sample puncher and DELFIA® Plateshake.

2. Congenital Hypothyroidism – Early Detection to Protect a Child’s Future

Congenital hypothyroidism affects 1 in every 2,000–4,000 newborns and is mostly caused by the absence, misplacement, or dysfunction of the thyroid gland. While symptoms may not be obvious in the neonatal stage, signs such as prolonged jaundice, constipation, lethargy, round face, macroglossia, and delayed development may appear within weeks. If not diagnosed and treated early, it may result in severe intellectual and physical disability.

However, with early detection and treatment using synthetic thyroid hormone (Levothyroxine), affected children can develop normally.

• Test Kit: DELFIA® Neonatal T4 (Code: A065-110) – 960 tests
• Method: Competitive time-resolved fluorescence immunoassay (TRFIA) measuring total T4, using europium-labeled T4 and a solid-phase anti-IgG system. Fluorescence is inversely proportional to T4 concentration.
• Equipment: VICTOR™ 2D, sample puncher, DELFIA® Trio washer, and shaker.

3. Congenital Adrenal Hyperplasia (CAH) – Dangerous but Manageable with Early Diagnosis

CAH is a rare inherited disorder affecting 1 in every 10,000–20,000 newborns, caused by mutations in the gene encoding 21-hydroxylase, essential for producing cortisol and aldosterone. Early symptoms include vomiting, dehydration, hyponatremia, hyperpigmentation, and in females, ambiguous genitalia. If untreated, it can lead to early puberty or virilization in girls.

Early detection and treatment with hormone replacement therapy (e.g., hydrocortisone, fludrocortisone) and electrolyte management allow for normal development.

• Test Kit: DELFIA® Neonatal 17-OHP (Code: A024-110) – 384/960 tests
• Method: Time-resolved fluorescence competitive immunoassay for 17-OH-progesterone (17-OHP), using europium-labeled antigen and danazol to release bound hormone. Fluorescence inversely correlates with 17-OHP levels.
• Equipment: VICTOR™ 2D, automatic puncher, and shaker.

4. Phenylketonuria (PKU)

PKU is a metabolic disorder in which the body cannot break down phenylalanine, leading to irreversible brain damage if untreated. The Neonatal Phenylalanine kit (NP-1000) uses a standardized ninhydrin-based fluorescence assay. Compatible with the VICTOR™ 2D, this test delivers reliable sensitivity and specificity—ideal for centers that do not yet operate advanced enzymatic platforms.

• Test Kit: Neonatal Phenylalanine Kit (Code: NP-1000) – 960/4800 tests
• Method: Fluorescent reaction using ninhydrin and a specific dipeptide to enhance signal intensity. Fluorescence is measured at 390 nm (excitation) and 486 nm (emission).
• Equipment: VICTOR™ 2D, sample puncher, and TriNEST™3 plate incubator.

5. Galactosemia

Newborns with galactosemia are unable to metabolize galactose – a sugar present in breast milk – which can lead to liver damage and neurological disorders. The estimated incidence is 1 in 30,000 live births.

Depending on needs, customers may choose either the Neonatal Total Galactose kit (3029-0010) to quantify total galactose, or the Neonatal GALT kit (NG-1100) to measure GALT enzyme activity – a common cause of the disease. Both kits are designed for easy operation on the VICTOR™ 2D system and are well-suited for essential screening programs in early-stage implementation.

• Cause: The body is unable to metabolize galactose, leading to jaundice, liver failure, and developmental delay if untreated.
• Testing solutions:
  • Neonatal Total Galactose (Code: 3029-0010) – 960 tests
  • Neonatal GALT (Code: NG-1100) – 960 tests
• Principle of testing:
  • Neonatal Total Galactose (3029-0010): Uses the fluorescent signal of galactose oxidase to determine the total galactose content, including galactose and galactose-1-phosphate. Fluorescence is measured at 405 nm emission after excitation at 340 nm.
  • Neonatal GALT (NG-1100): Adapted from the semi-quantitative Beutler and Baluda method. After ethanol precipitation, fluorescence is measured at 355 nm (excitation) and 460 nm (emission).
• Compatible system: Fully applicable on the VICTOR™ 2D platform.

6. Cystic Fibrosis

This is a rare but serious genetic disorder that affects lung and digestive system function. Quantification of IRT (immunoreactive trypsinogen) is the first step in the CF screening protocol.

The DELFIA® Neonatal IRT kit (A005-210) uses a two-site sandwich time-resolved fluorescence immunoassay, enabling accurate and stable IRT measurement. The VICTOR™ 2D system optimizes reading time and workflow for laboratory technicians.

• Cause: A genetic disease causing severe respiratory and digestive impairment, requiring early intervention.
• Test kit: DELFIA® Neonatal IRT (Code: A005-210) – 384/960 tests
• Testing principle:

The DELFIA® Neonatal IRT assay is a solid-phase, time-resolved fluorescence immunoassay using a two-site sandwich technique with two monoclonal antibodies specific to distinct epitopes of the IRT molecule. IRT from the sample binds simultaneously to the immobilized antibody on the solid phase and to a europium-labeled antibody in the reaction buffer. The sample is extracted from dried blood spots. After incubation, enhancement solution releases europium ions to generate the fluorescent signal. Fluorescence intensity is directly proportional to the IRT concentration in the sample.

• Compatible equipment: Operates smoothly with the VICTOR™ 2D system, sample puncher, and DELFIA® Trio washer.

7. Biotinidase Deficiency

If left untreated, biotinidase deficiency can lead to neurological disorders, skin inflammation, and immune dysfunction.

The Neonatal Biotinidase kit (3018-0010) uses a semi-quantitative fluorescence technique to measure enzyme activity from dried blood spots. When paired with the VICTOR™ 2D system, it delivers highly accurate and reproducible results – an ideal option for facilities aiming to expand their basic newborn screening panels.

• Cause: Inhibits the body’s ability to recycle biotin, leading to neurological and dermatological disorders if untreated.
• Test kit: Neonatal Biotinidase (Code: 3018-0010) – 960/4800 tests
• Testing principle:

The Neonatal Biotinidase kit is a semi-quantitative fluorescence assay designed to measure biotinidase activity from dried blood spots. The substrate biotin-6-aminoquinoline (BAQ) is cleaved by biotinidase to produce the fluorescent compound 6-AQ. When the reagent is added to the sample well, the enzyme in the blood is activated and the reaction occurs. Ethanol is then added to stop the reaction and precipitate proteins. Fluorescence (proportional to enzyme activity) is measured at 355 nm (excitation) and 460 nm (emission). Results are calculated using a standard curve and calibration samples provided in the kit.

• Compatible equipment: VICTOR™ 2D system, sample puncher, shaker, and plate incubator.

VICTOR™ 2D – A Smart Choice for Basic Newborn Screening Programs

The VICTOR™ 2D system is an ideal solution for facilities that are implementing or expanding their newborn screening programs. With accurate fluorescence measurement capability, stable operation, affordable investment cost, and flexible compatibility with auxiliary devices, VICTOR™ 2D offers laboratories full autonomy across all stages – from technical procedures to data management.

SISC is committed to providing a full package of test kits, equipment, and in-depth technical support, helping physicians and biomedical technicians implement newborn screening in a scientific, standardized, and effective manner. We are not just an equipment supplier but a trusted technical partner accompanying our valued customers on the journey to protect the health of future generations.