Newborn screening (NS) is a public health program that aims to diagnose rare diseases before the onset of clinical symptoms. Early diagnosis and treatment prevent disease progression or reduce risk of early complications and mortality. In Lithuania, newborns are screened for critical congenital heart defects, hearing and vision impairments, and rare diseases.
Newborn screening for rare diseases
Newborn screening for rare diseases has been around the world for more than five decades. During this period, NS has evolved from a simple laboratory test for a single disease (phenylketonuria) to a complex public health system involving education, testing, diagnostics, monitoring and quality control, while number of diseases that can be tested already exceeds 60.
In accordance with global guidelines, NS for rare diseases is performed in specialized and centralized laboratories that screen no less than 30,000 to 50,000 newborns per year. In Lithuania, newborn screening has been implemented at Centre for Medical Genetics of Vilnius University Hospital Santaros Klinikos since 1975.
Newborns in Lithuania are screened for 12 rare diseases: Phenylketonuria (PKU) since 1975, Congenital Hypothyroidism (CH) since 1995, Adrenogenital syndrome (AGS) and Galactosemia (GAL) since 2015 and 8 additional diorders from 2023: Carnitine Uptake Defect (CUD), Medium-chain acyl-CoA dehydrogenase deficiency (MCADD), Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD), Methylmalonic acidemia (MMA), Glutaric acidemia type 1 (GA1), Maple syrup urine disease (MSUD), Cystic fibrosis (CF) and Spinal Muscular Atrophy (SMA).
How is newborn screening done?
Testing for these 12 disorders is funded by Compulsory Health Insurance Fund and is not mandatory. Parents or guardians of the newborn who wish to opt out of screening must sign a NBS refusal form. Newborn blood is drawn from the heel 3–5 days after birth (no earlier than 48 hours after the first feeding and no later than the fifth day of life) on a special test card. After the drops of blood have dried, they are sent to the VUH SK Centre for Medical Genetics for laboratory testing. Dry blood is analyzed for biomarkers of the disorders.
In the absence of pathological changes, neonate’s parents/representatives are not contacted. Only if changes in biomarkers’ concentrations exceed the established thresholds, parents/representatives of the neonate will be notified immediately and follow-up testing will be done. Depending on the newborn screening tests results newborn will be referred to a geneticist, pediatric endocrinologist, pediatric pulmonologist or pediatric neurologist for a consultation.
If blood sampling and the sending of the test card are carried out in time, parents will be contacted within one month of birth.
A positive newborn screening test does not mean a child definitely has the medical condition. Changes in newborn metabolism and newborn screening tests results can be influenced by various conditions unrelated to hereditary diseases.
Upon arrival at doctor’s office, full examination of the newborn is performed, blood tests are repeated and additional tests are ordered.
After consultation with a doctor, previous results may turn out to be false positive and the newborn is deemed healthy.
If additional tests confirm a disease, treatment is started immediately and further tests can be carried out to determine a genetic cause of the disorder.
Expanded Newborn Screening
In most parts of the world, newborns are screened for other life threatening rare diseases. Symptoms of these disorders are usually inconspicuous and unrecognizable immediately after birth, but if left untreated, may cause irreversible damage in few weeks/months or even lead to sudden infant death. Approximately 30 to 60 babies are born with these conditions every year.
At the Centre for Medical Genetics of VUL Santaros Klinikos, a newborn can be screened for 30 treatable hereditary disorders. So far these additional tests is not funded by Compulsory Health Insurance Fund and has to be paid for.
Expanded neonatal screening tests for amino acids and acylcarnitines levels in dry blood. Dry blood sample must be no older than 3 weeks.
If blood was collected to perform newborn screening for 4 disorders, regardless of what hospital your newborn was born in, no additional blood sampling is needed for expanded screening. All you have to do is pay and send a copy of payment receipt to e-mail specified bellow. You will receive test results together with their interpretation.
You can pay for expanded screening (72.20 Eur) in two ways:
1. In cash/by card – at Center for Medical Genetics of VUL Santaros Klinikos (Building F, Ist floor, nursing post of Center for Medical Genetics) on business days, from 8:00 to 15:00.
2. By transfer to account of Vilnius University Hospital Santaros Klinikos at SWEDBANK
Account number: LT487300010002492286
Company code: 124364561
The purpose of the payment must be specified:
a. Test code: 19211 (VNT30)
b. Mother’s name and personal identification number
Send a copy of payment receipt to e-mail address: email@example.com
You can view results of your newborn’s screening for 30 hereditary metabolic diseases (VNT30) in the electronic patient card, which only the mother can log in to:
2. Log in using „E-Government Gateway”
3. Select user „Resident”
4. Select identification method (bank or electronic identification)
5. Follow instructions in the login tool
6. After entering „Healthcare Services” page, click „Confirm”
7. You can view expanded screening results in the electronic patient card.
8. After opening the result form, look at the column “Išvada” on the first page. More information about electronic patient card: https: //viva.santa.lt/ipk/instrukcija.asp
Changes in metabolism of the newborn can also be influenced by various conditions unrelated to hereditary diseases, such as nutrition. If changes are identified in expanded screening, you will be referred to a geneticist who will explain the results, repeat the test or order additional tests.
I was contacted about newborn screening
Newborn screening identifies the risk of certain diseases.
If abnormalities were detect during tests, it does not confirm a diagnosis.
If you have been contacted or received a letter from Vilnius University Hospital Santaros Klinikos Centre for Medical Genetics, it means that abnormalities were identified during newborn screening and need to be clarified. These changes can be caused by a variety of reasons, even unrelated to a disease (see below).
You may be asked to resend your newborn’s dry blood sample (from the heel).
Reasons for re-testing:
- The primary neonatal dry blood sample was of poor quality:
- Blood sample was collected too soon, before 48 hours of age.
- There is not enough blood on test card.
- Test card was contaminated or damaged during transportation.
- Information section of the test card (data about you and your newborn) was not filled out properly
- Neonatal conditions:
- Neonate was born preterm, at ≤36 weeks gestational age, and it is recommended for newborn screening tests be repeated after 2 weeks.
- Newborn underwent a blood transfusion before blood sample was collected.
- Neonatal jaundice and other temporary conditions.
- Parenteral feeding.
- Blood collection technique.
- The results of the newborn test may also be affected by a condition of the mother:
- Eating habits.
- Medications used.
- Duration and severity of labor.
Invitation for a consultation
If you have been referred to a geneticist at Vilnius University Hospital Santaros Klinikos:
- Contact your baby’s health care provider and get a referral for geneticist’s consultation.
- Upon receiving a referral, arrive immediately at Centre for Medical Genetics Vilnius University Hospital Santaros Klinikos, Building F, 1st floor, Santariškių str. 2, Vilnius.
- Have a child’s birth certificate and a referral to a geneticist on arrival.
- You do NOT need to register for a consultation in advance.
- Register in the first window of the reception. Reception and geneticist are already informed of your arrival.
If you have been referred to a pediatric endocrinologist:
- Contact your baby’s health care provider and get a referral for endocrinologist’s consultation.
- Upon receiving a referral, see a pediatric endocrinologist immediately at the hospital indicated to you over the phone.
- Have a child’s birth certificate and a referral to an endocrinologist on arrival.
- You do NOT need to register for a consultation in advance.
- Pediatric endocrinologist is already informed of your arrival.
Phone no.: + 370-5-2658509, + 370-5-2501797