• Are premature infants included in the screening program?

Yes, the screening program includes premature babies, though the timing of the test may be adjusted by a physician based on the infant's specific needs.

• What is the procedure for infants with a family history of genetic disorders?

Infants with a family history of genetic or metabolic conditions are screened, but they may require additional medical follow-up or further testing even if the initial screening result is normal.

Medical Laboratories

Comprehensive Newborn Screening

Newborn Screening (NBS)

A preventative program for early detection of genetic and metabolic disorders in newborns, ensuring rapid intervention and protecting your child from intellectual and physical disabilities.

Trusted medical contentUpdated: 04-09-2026Views: 49LHL-3253

About this service

Newborn Screening (NBS) is a preventative public health program that conducts mass screening of newborns for a range of congenital genetic, metabolic, and hormonal disorders before clinical symptoms appear. It primarily involves analyzing a blood sample taken from the baby's heel and placed on special filter paper. The program screens for disorders such as phenylketonuria (PKU), congenital hypothyroidism, cystic fibrosis, G6PD deficiency, and disorders of amino acid, organic acid, and fatty acid metabolism.

What is included?

✓Collect a blood sample from the newborn's heel on special filter paper according to the international protocol.

✓The sample is examined to detect a comprehensive range of metabolic, hormonal, and genetic disorders (varying according to the national/local program).

✓Consult a pediatrician or a geneticist/metabolic specialist for the interpretation of the overall results if there is an abnormal result.

✓Support and guidance services for the family in case of need for follow-up or treatment.

Conditions and notices

Fasting is not required

Optimal timing: The examination should be performed at least 24 hours after breastfeeding or formula feeding.

Method of collection: The sample is taken by pricking the heel of the child's clean foot and dripping blood onto the filter paper circles until they are completely filled on both sides.

Essential information: The examination form must be filled out accurately, and it must include the child’s data (name, weight, age in days/hours), the parents’ data, and the family’s medical history.

Follow-up on results: It is the shared responsibility of the family and the healthcare provider to follow up on the test result and ensure that it has been received, and to take the necessary steps if a re-examination or confirmatory tests are requested.

Frequently Asked Questions

Short answers to the FAQs published with this service.

• What is Newborn Screening (NBS)?

Newborn Screening is a preventive health program that screens infants shortly after birth to detect certain genetic, metabolic, and hormonal disorders before symptoms appear.

• Is fasting required for the infant before screening?

No, there is no requirement for the newborn to fast before the screening sample is taken.

• Why is screening performed even if the baby appears healthy?

The screening aims to identify metabolic, hormonal, and genetic disorders that may not show symptoms until weeks or months after birth, allowing for detection before physical or neurological damage occurs.

• What kind of treatments can be initiated if a disorder is detected?

Comprehensive Newborn Screening

About this service

What is included?

Conditions and notices

Frequently Asked Questions

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