Genetic disorders occur in about 2-5% of all live births and cause about 50% of infant deaths in industrialized countries. Children presenting with a severe disease in early childhood represent a population likely enriched for rare genetic diseases.
The aim of the study was to investigate the most common causes for referral to a clinical geneticist during first 3 months of age and observe the diagnoses. This is a retrospective analysis of 1096 medical records of patients consulted by a clinical geneticist in Children’s Clinical university hospital during year 2019. From all the records 101 were selected as appropriate. In 36 cases (35,6%) first consultation was made during the first week of life. Born prematurely were 31 (30,7%) infants. Apgar score was below 7 in 31 (30,7%) cases.
Abnormalities were found prenatally in 36 cases (35,6%). The most common causes for consultation were nervous system diseases – 22,7 %, congenital heart defect - 19,8% and muscle-skeletal abnormalities – 17,8%.
In 78 cases (77,2%) the patient's features were strongly suggestive of a genetic disorder, but in 23 cases (22,7%) the clinical picture was very complicated and the geneticist was invited as one of several consultants. Diagnosis of a genetic disease was made in 15 cases (14,83%), of which 10 were chromosomal abnormalities and 5 (4,9%) were monogenic disorders. Genetic disorders were suspected in many infants but found in a minority. Genetic disorders should be suspected in premature births. Neonates who needed resuscitation in delivery room are suspicious on genetic disorders. Urgent transfers from the perinatal centres to Children hospital are often needed in these cases. The study should be continued with bigger patient count and for a longer time period as diagnostics of rare diseases may take several years.
- 3.4. Other publications in conference proceedings (including local)