Articles (EN)

Newborn screening: what tests are taken

2026-05-27 12:00 Childbirth
In short: in the maternity hospital, the newborn undergoes several mandatory examinations: extended neonatal blood screening (taken on the 3rd-4th day of life), audiological screening (hearing test), neonatologist examination. All these procedures are safe and allow you to identify rare, but treatable diseases.

What is neonatal screening?

Neonatal screening is a mass examination of newborns for the presence of rare hereditary and congenital diseases, which, if detected early, respond well to treatment.
In Russia, expanded neonatal screening has been introduced since 2023. Up to 36 diseases are analyzed from a small amount of blood (heel injection), including phenylketonuria (PKU), hypothyroidism, cystic fibrosis, galactosemia, adrenogenital syndrome and a number of others.

When and how blood is taken

Timing: in full-term babies, blood is taken on the 3rd-4th day of life. In premature babies - a little later (on the 7th day or when reaching a weight of 1800 g). You cannot take it in the first 24 hours - the results will be unreliable.
How: an injection into the heel of the baby (heel test), a drop of blood is applied to a special card-form. The procedure is quick and causes only short-term discomfort. Breastfeeding before the procedure is the best pain relief.

What is checked in extended screening

Advanced screening covers several groups of diseases:
  • Aminoacidopathies (amino acid metabolism disorders): phenylketonuria, tyrosinemia, MSUD, etc.
  • Organic acidemias: propionic, methylmalonic acidemia, etc.
  • Fatty acid oxidation disorders: MCAD deficiency and others.
  • Endocrine disorders: congenital hypothyroidism, adrenogenital syndrome.
  • Others: cystic fibrosis, galactosemia, spinal muscular atrophy (SMA).

Audiological screening

A hearing test is carried out for all newborns before discharge. Automatic otoacoustic emission (OAE) is used: a small probe is placed in the ear that generates a quiet sound and registers the cochlea's response. The procedure is painless and takes 2-5 minutes.
If the result "did not pass", this is not a diagnosis of hearing loss. The cause may be mucus in the ear after childbirth. The child is sent for a second examination to an audiologist. Early detection of hearing impairment is critically important: rehabilitation before 6 months gives a much better result.

Examination by a neonatologist

A neonatologist examines the baby every day in the maternity hospital. What is checked:
  • Heart rate and breathing – to exclude congenital heart defects.
  • Muscle tone and reflexes.
  • Hips (hip dysplasia – in premature babies and babies in breech presentation, the risk is higher).
  • Eyes (cataract, glaucoma), mouth (cleft palate).
  • Weight, jaundice, umbilical remnant.

Pulse oximetry

Some maternity hospitals perform pulse oximetry - measuring blood oxygen saturation through a sensor on the skin - for the early detection of critical congenital heart defects (CVMS). The procedure is painless and takes a few minutes.

Vaccinations in the maternity hospital

In the Russian maternity hospital, two vaccinations are carried out:
  • Hepatitis B vaccine – the first 12 hours of life (intramuscularly in the thigh).
  • BCG (against tuberculosis) – on the 3rd-4th day of life (intradermally in the left shoulder).
Both vaccinations are part of the national calendar of preventive vaccinations of the Russian Federation. Refusal to vaccinate is made in writing - informed voluntary refusal.

When to see a doctor

After discharge, contact your pediatrician if:
  • you received a notification that the results of the screening require clarification – do not panic, but contact your doctor immediately;
  • the baby does not react to loud sounds;
  • after vaccination, the injection site is very red, swollen or has a temperature above 38.5 °C (moderate redness and slight fever in the first days are normal).

Frequently Asked Questions

Is it possible to refuse neonatal screening?

Yes, legally this is the right of parents. But keep in mind: screening detects diseases that, with early treatment, do not have serious consequences. Without screening, symptoms appear later, when irreversible changes have already occurred.

When will the screening results be ready?

Usually after 2-4 weeks. If the results are normal, the family, as a rule, is not notified. If clarification is needed, a call or a call comes from a medical genetic consultation.

Do I need to take additional tests in paid laboratories?

State expanded screening covers most significant diseases. Additional commercial screening (for example, extended to 100+ metabolites) is at the request and decision of the parents.

Conclusion

Newborn screening is a simple, safe, and extremely important procedure. It allows you to start treating rare diseases before symptoms appear - this literally changes the child's life. Do not refuse screening and do not forget to find out the results.

Bibliography

  1. Ministry of Health of the Russian Federation. Order No663n "On Expanded Neonatal Screening". 2022. https://www.rosminzdrav.ru/
  2. AAP. Newborn Screening. 2022. https://www.aap.org/en/patient-care/newborn-screening/
  3. WHO. Recommendations on newborn health. 2017. https://www.who.int/publications/i/item/WHO-MCA-17.07
  4. NICE guideline CG37. Routine postnatal care. 2006. https://www.who.int/publications/i/item/9789241506649
  5. Therrell BL et al. Current status of newborn screening worldwide. Semin Perinatol. 2015. https://pubmed.ncbi.nlm.nih.gov/26072183/
This material is for informational purposes only and does not constitute medical advice and is not a substitute for medical advice. If a child's sleep is accompanied by alarming symptoms, a pronounced deterioration in health, problems with breathing, feeding or weight gain, it is necessary to consult a qualified medical specialist as soon as possible, and not rely only on information from the Internet.