Newborn health is one of the most critical foundations for lifelong well-being. With advances in genetic medicine, we are now able to detect certain rare but actionable conditions early in life, often before symptoms appear. Newborn Genetic Screening provides valuable biological insights that enable early diagnosis and timely intervention. This proactive approach allows healthcare providers and families to take informed steps that can significantly improve outcomes and quality of life.
Why Choose Newborn Genetic Screening?
Choosing Mediclinic’s Newborn Genetic Screening Package ensures early identification of potential genetic conditions, allowing for prompt clinical intervention and personalised care planning. Rather than waiting for symptoms to develop, this screening equips clinicians and parents with critical information from the very beginning of life.
By enabling early detection, the package helps prevent complications, supports optimal development and provides peace of mind to families, backed by expert clinical guidance and advanced diagnostic capabilities.
What is Newborn Genetic Screening?
Newborn Genetic Screening compliments biochemical newborn screening and is a proactive test performed shortly after birth using cord blood to identify infants’ risk of developing certain inherited genetic and metabolic disorders. These conditions may not be visible at birth but can lead to serious health issues if not treated early. The screening analyses specific genetic markers associated with a range of conditions, enabling early medical intervention and management.
How will I be notified of my baby’s results?
The comprehensive genetic testing can take up to 4 weeks to be reported. Once your baby’s genetic report is available, you will be contacted by the physician from the hospital where your baby was born to discuss the results and any questions you may have in a follow-up appointment.
How is it different to other genetic tests?
NIPT (during pregnancy)
- Performed during pregnancy
- Screens only for chromosomal abnormalities focusing on a limited number of conditions (e.g., Down syndrome)
- Uses a maternal blood sample
Biochemical Newborn Screening
- Standardised testing to exclude multiple metabolic and endocrine disorders. Essential for early detection and rapid intervention.
- Newborn Genetic Screening does not replace Biochemical Newborn Screening - it complements it, giving best results.
- It is usually performed via a “heel prick” testing within first few days of life.
Newborn Genetic Screening
- Planned before birth but performed after birth
- Screens for a broader range of genetic and metabolic disorders (more than 815 genetic conditions)
- Does not replace Biochemical Newborn Screening
- Uses a direct sample from the baby (i.e., cord blood)
- Focuses on early detection of actionable conditions
What’s Included?
- Sample collection shortly after birth (via cord blood)
- Comprehensive genetic screening panel
- Specialist review and interpretation of results
- Follow-up consultation to discuss findings and next steps
- Referral and care pathway planning if required
Conditions Commonly Screened
- Metabolic disorders (e.g., Phenylketonuria – PKU)
- Inborn errors of immunology (e.g. SCID)
- Haemoglobin disorders (e.g., Sickle cell disease)
- Inherited heart rhythm disorders (e.g. long QT)
- Inherited genetic disorders affecting development and organ function
- Other rare but actionable genetic conditions
How is Genetic Screening Performed?
- Antenatal consultation for explanation of testing and consent.
- A cord blood sample is taken shortly after birth.
- The sample is sent to the laboratory for testing.
- Parents are counselled based on their baby’s genetic report.
Book Your Appointment
Genetic screening packages and consultations are available across Mediclinic Middle East facilities. Book your consultation with your physician via the Mediclinic app, call 800 2033 or complete the form below.