Reference Center for Congenital Malformations and Intellectual Disability
The Reference Center for Congenital Malformations and Intellectual Disability was established in Vilnius University Hospital Santaros Klinikos on 15th January 2018. It is the largest diagnostics, monitoring, treatment, teaching, and research center in Lithuania. The center has a multidisciplinary team of experts such as neonatologists, pediatricians, geneticists, pediatric surgeons, cardiac surgeons, psychiatrists, radiologists, child, and adolescent psychiatrists, medical geneticists, psychologists, maxillofacial surgeons, pathologists, and other specialists.
Patients with rare congenital malformations and intellectual disabilities from entire Lithuania are consulted here, we manage follow-up and symptomic care of diagnosed patients. The Reference Center for Congenital Malformations and Intellectual Disability is a full member of ERN-ITHACA- European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability.
The center provides a wide range of inpatient and outpatient services and uses the most advanced diagnostic methods (instrumental, biochemical, genetic, molecular genetic, cytogenetic) and modern treatment methods (surgery, rehabilitation, medicines). Psychological and social support for patients and their families is available as well.
The Reference Center for Congenital Malformations and Intellectual Disability is one of the largest centers in the Baltic countries based on the number of patient consultations. Multidisciplinary prenatal and postnatal counseling is given to diagnose rare genetic diseases.
Patients with congenital malformations and intellectual disability have received over 800 consultations in 2018 and over 1100 consultations in 2019. Patients were diagnosed by cytogenetic (karyotyping, fluorescent in-situ hybridization (FISH), molecular cytogenetic (single nucleotide polymorphism - comparative genomic hybridization) and modern molecular genetic methods (Sanger sequencing, next-generation exome/genome sequencing).
Our team provides comprehensive consultations, and prenatal diagnostics during pregnancy for at-risk families. Each year, we perform approximately 3000 pregnant women consultations, 5000 fetal ultrasound tests, and 400 invasive prenatal tests (chorionic villus sampling, amniocentesis). Other testing includes blood biomarkers, non-invasive diagnostics. Laboratory testing allows diagnostics of chromosomal, genomic and infectious pathology.
The Reference Center for Congenital Malformations and Intellectual Disability has a unique monitoring system, to track information on newly diagnosed patients, gather follow-up information, and monitor treatment efficiency. The data is continuously analyzed and renewed.
Our team participates in international conferences, improves their knowledge, and presents the results of their original research. They participate in national and international societies and organize international conferences as well.
We participate in project – Enhancing Psychiatric Genetic Counselling, Testing, and Training in Europe (2018-2021) - CA17130, COST
We cooperate with clinics and centers abroad (https://ern-ithaca.eu/). Complex cases are discussed with international experts. Patient organizations, e.g. Down syndrome patients and their caregivers association ((https://www.saulytes.lt/), 22q11 syndrome association (https://www.facebook.com/22q11Lietuva/) are partners with the team of our Reference Center. The team takes part in the teaching of Vilnius University Faculty of Medicine students, residents and physicians.
