Blood samples from newborn babies for screening

Blood samples taken from newborn babies are used in screening for inherited metabolic and immunodeficiency disorders. These disorders are rare and inheritable. They usually appear in early infancy. Most children suffering from these rare disorders appear perfectly healthy at birth. However, if left untreated, the diseases can lead to severe disability or death. It is therefore essential to start the right treatment as soon as possible in order to minimize any damage caused by the disease.

Some of the metabolic and immunodeficiency disorders can be detected from a blood sample taken from the newborn baby. HUS maternity hospitals offer screening for these disorders for all newborn babies. Without screening, early detection of these disorders is very difficult.

Screening is offered for the following disorders:

Severe combined immunodeficiency (SCID)

Amino acid metabolism disorders

• Phenylketonuria (PKU)
• Tyrosinemia type 1
• Maple syrup urine disease (MSUD)
• Homocystinuria
• Hyperornithinemia and gyrate atrophy (HOGA)

Endocrinological disorders

• Congenital adrenal hyperplasia (CAH)

Organic acid metabolism disorders

• Congenital deficiency of vitamin B12
• Glutaric aciduria type I (GA-II)
• Isovaleric aciduria
• Methylmalonic aciduria
• Propionic aciduria

Fatty acid metabolism disorders

• CACT (Carnitine-Acylcarnitine Translocase Deficiency)
• CPT (Carnitine Palmitoyl Transferase Deficiency) type I
• CPT (Carnitine Palmitoyl Transferase Deficiency) type II
• CUD (Carnitine Uptake Defect)
• Glutaric aciduria type II (GA-II)
• MCAD (Medium-chain acyl-CoA dehydrogenase deficiency)
• LCHAD (Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency)/TFP
  (Trifunctional Protein Deficiency)
• VLCAD (Very Long Chain Acyl-CoA Dehydrogenase Deficiency)

Urea cycle disorders

• Citrullinemia
• Argininosuccinic aciduria (ASAuria)
• Argininemia
  

In the first 2–5 days of life (48–120 hours), your baby's heel will be pricked to obtain a blood sample for testing. The sample will be taken at the maternity ward or at the pediatric ward. If you have been discharged before a sample is taken, you can visit the HUSLAB laboratories mentioned at the end of these instructions for sampling while your baby is 2–5 days old.

The sampling locations are open on weekdays. The laboratory in New Children's Hospital is also open in the evenings from 4 pm to 6 pm and on Saturdays without an appointment from 9 am to 4 pm. You do not need to make an appointment for sampling. Mornings are often busy at the sample collection sites, and it is recommended you come in the afternoon. You can also make an appointment at most of the sampling locations. The sampling appointment can be made at www.huslab.fi or by calling +358 9 471 86800 on weekdays.

We recommend that you bring the baby's delivery record (Synnytyskertomus 2 SK2) along in order to confirm the baby's identity and to expedite the process. However, a sample can be obtained even if you do not bring the delivery record with you.
If the screening results come back abnormal, we will contact you. You will not be notified of normal screening results. The results of the blood test will also be visible in My Kanta Pages.