Santariškių g. 2, 08661 Vilnius
tel. (+370) 5 236 5000
faks. (+370) 5 236 5111
info@santa.lt

      

SANTAROS KLINIKOS

VILNIAUS UNIVERSITETO LIGONINĖ

Departments, subdepartments and diseases

Spausdinti

DEPARTMENT OF PRENATAL DIAGNOSIS

The aim of prenatal genetic counseling is to diagnose any hereditary diseases or congenital abnormalities far before the childbirth. There are the following directions of prenatal diagnosis at the Centre of Medical Genetics:

1)  examination of the levels of maternal serum markers characteristic to certain fetal development abnormalities;
2)  performance of fetal ultrasound examination to diagnose congenital abnormalities and/or to determine respective ultrasound markers;
3)  determination of fetal karyotype to determine the number of chromosomes and possible abnormalities in their structure;
4)  Performance of molecular genetic testing for the diagnosis of certain chromosomal and monogenic disorders. To determine fetal karyotype, and for performance of prenatal molecular genetic examinations, cells having the same genotype and karyotype as those of the fetus are required. The samples of such cells - amniotic fluid cells or chorionic villus cells are taken through certain invasive procedures (amniocentesis, chorionic villus sampling).

LABORATORY FOR MOLECULAR GENETICS

The Laboratory for Molecular Genetics provides molecular genetic testing for the purpose of confirming genetic disorders, prenatal diagnosis, presymptomatic testing and risk assessment.  Molecular genetic diagnostics is performed from DNA extracted from blood, amniotic fliud, chorionic villus. Analysis is preformed by experienced laboratory specialists using classical and modern molecular technologies and software. 

Molecular genetic diagnostics is performed for chromosome aneuploidy, Y chromosome microdeletion testing, phenylketonuria, cystic fibrosis, hereditary hearing loss, inherited muscle atrophies, Fragile X syndrome, Huntington disease, Prader Willi/Angelman syndrome. Testing for complex disorders – breast and ovarian cancer, prostate cancer, hypertrophic cardiomyopathy, Long QT syndrome. The Laboratory for Molecular Genetics is committed to the highest standards of molecular genetic diagnostic services for patient management.

DEPARTMENT OF GENETIC COUNSELING

The diversity of human genome and the genetic proceses in human populations.The applications of DNA technologies in the diagnostics of congenital disease.The determination of the human genome diversity according to mt-DNA, Y chromosome and nuclear DNA polymorphism.

LABORATORY FOR CYTOGENETICS

The Laboratory for Cytogenetics provides cytogenetic analysis for patients with various clinical symptoms. Laboratory performs postnatal cytogenetic tests from cultivated lymphocytes and prenatal cytogenetic tests from cultivated amnycytes. Karyotype analysis is performed using differential G-banding (GTG) chromosome staining technique. Molecular cytogenetic methods, such as FISH with commercial kits and custom labeled BAC probes, are also performed for analysis of chromosome microdeletions and small chromosome structure rearrangement detection and specification.

Laboratory for Newborn Screening and Diagnostics of Inborn Errors of Metabolism is the main diagnostic laboratory for inborn errors of metabolism in Lithuania, based at Vilnius University Hospital Santaros Clinics.

The laboratory is responsible for the nationwide newborn screening programme in Lithuania as well as selective screening of IEM.

LABORATORY FOR NEWBORN SCREENING AND DIAGNOSTICS OF INBORN ERRORS OG METABOLISM

Nationwide program of newborn screening for inherited metabolic disorders covers all the territory of Lithuania and is regulated by the Health Minister order 2004-12-06 Nr. V-865.

Currently newborns are screened for phenylketonuria (since 1975) and congenital hypothyroidism (since 1993). >99 % of newborns are being tested and 10–16 new cases of these diseases are diagnosed in Lithuania annually due to this programme. Biochemical genetic testing in laboratory is performed using methods of liquid chromatography, gas chromatography – mass spectrometry, thin layer chromatography, electrophoresis and covers diagnostics of organic acidurias, disturbances of amino acid metabolism, lysosomal storage disorders, etc. very year up to 600 patients are tested in the laboratory. ince 2008 very rare IEM such as alpha-mannosidosis, succinic semialdehyde dehydrogenase deficiency, formiminoglutamic aciduria were diagnosed in the laboratory. aboratory participates in external quality assurance programme (ERNDIM) for plasma amino acids, qualitative organic acids, special assays in urine.

Which clinical geneticist do you need?

The reasons that a person might be referred to a clinical geneticist are:

  • Person with inherited disorder or birth defect
  • Parents whose infant has inherited disorder or birth defect
  • Family history of inherited disorder or a birth defect
  • Pregnant omen whose ultrasound examinations or blood testing indicates that their pregnancy may be at increased risk for certain complications or birth defects
  • Couples who are first cousins or other close blood relatives

Genetic counselor provides advice about a genetic condition, prognosis, treatment and long-term outcome.

Indications for genetic counseling

Genetic counseling for inherited diseases and inborn defects (with overall laboratory testing):

  1. Presence of a known or suspected inherited disorders, chromosomal abnormalities or multiple/isolated developmental defects.
  2. Family history of a known or suspected inherited disorders, chromosomal abnormalities or multiple/isolated developmental defects.
  3. Dysmorphic features (especially face).
  4. Mental retardation.
  5. Abnormal psychical state.
  6. Abnormalities in physical development (bones deformation, joints mobility).
  7. Blindness or deafness.
  8. Disorders of genital differentiation and development.
  9. Neurological symptoms: seizures, hypotonic or hypertonic muscles, hypotrophy or hypertrophy, hyperkinesis, etc.
  10. Skin alterations: hypopigmentation/hyperpigmentation of skin, outgrowth, photosensitization, abnormal hair color or structure, alopecia, alterations of nail, etc.
  11. Disorders of digestion of unknown etiology: frequent vomiting, diarrhoea, hypotrophy, some food intolerance, hepatomegaly, splenomegaly, etc.
  12. Urinary system abnormalities: nephrolithiasis in childhood, abnormal odour and color of the urine, etc.
  13. Primary infertility or amenorrhoea.
  14. Two or more miscarriages.
  15. Member of a family is a carrier of a balanced translocation or mosaic chromosomal abnormality.
  16. Pregnancy was aborted due to fetus developmental defects.
  17. Fetal ultrasound detected or suspected developmental defects
  18. Maternal serum screening detected biochemical markers for chromosomal diseases
  19. Infant death from unknown reason or sudden death
  20. Mother will be 35 years or older at delivery (or father – older than 42 years)
  21. Exposure to a known or suspected teratogen at the gestation period
  22. Close biological relationship of parents

Indications for prenatal measuring of biochemical markers signaling a risk of fetal chromosomal abnormalities, during the first and second trimesters of pregnancy:

  1.      Advanced maternal age (35 and over);
  2.      Women having been diagnosed fetal chromosomal abnormalities during previous pregnancies, or having delivered children with chromosomal disorders or congenital multiple malformations;
  3.      Women whose first – degree relatives or the relatives of the biological father have chromosome disorders;
  4.      Women whose fetal ultrasound examination revealed any pathology or markers of chromosomal abnormalities;
  5.      Women whose karyotype or the karyotype of the biological father demonstrated balanced chromosome rearrangements;
  6.      Women whose fetus had experienced mutagenic or teratogenic effects during early pregnancy

 

 

Atnaujinta 2017-07-18
Straipsnis parodytas: 11005 kartų(kartus)
 
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