Introducere. Consultațiile genetice la instituții medicale avansate sunt
efectuate pentru pacienţ cu maladii ereditare sau congenitale, precum și pentru
diagnosticul prenatal. În spitalele pentru copii, majoritatea pacienților consultați
sunt copii de diferite vârste, femei aflate în diferite etape ale sarcinii și cupluri
pentru planificarea familială sau cu tulburări reproductive.
Scopul studiului: Analiza generală a activității de consiliere a unui
geneticist medical pe baza unui an de activitate clinică la Centrul Genetic IMSP
Mamei și Copilul.
Materiale şi metode. A fost efectuat un studiu observațional retroactiv
folosind materialele din Registrul de Înscriere a Pacienților, formular nr. 074/e,
aprobat prin 828 la 31 octombrie 2011, pentru anul 2024. Au fost analizate
rezultatele a 782 de consultații genetice la Centrul Genetic IMSP Mamei și
Copilul.
Rezultate studiului. Din cei 782 de pacienți, 336 au fost femei la
diferite stadii ale sarcinii (49,74%), dintre care 53 au fost consultate o dată
(13,62%), și 393 de copii (50,26%), dintre care 251 au fost consultați o dată
(63,87%). La 10 de femei (18,87%) sarcina a fost prima. Vârsta a 23 de femei
era sub 35 de ani (43,4%), în timp ce vârsta a 30 de femei (56,6%) era peste 35
de ani. 16 femei (30,19%) au fost recomandate pentru amniocenteză, dintre
care în 10 cazuri (18,87%) rezultatele au fost confirmate ca fiind normale, iar în
4 femei (7,55%) au fost detectate anomalii ale fătului. În toate cazurile, sarcina
a fost continuată.
Au fost consultați un număr total de 393 de copii, dintre care 251 au
fost consultate o dată (53.87%). 171 de copii consultați (68.13%) erau sub
vârsta de un an, 40 de copii (15.94%) erau sub 5 ani, iar 40 de copii (15.94%)
erau sub 16 ani. Un cariotip a fost recomandat pentru 27 de copii (10.76%),
MLPA pentru diagnosticul sindromurilor de microdeletie a fost recomandat
pentru 16 copii (6.37%), 6 copii au fost testați pentru oncogeni (2.39%), iar 7
copii (2.79%) au fost testați pentru boli neuromusculare progressive. Bolile
genetice unice au fost suspectate la 26 de copii (10.36%), iar bolile metabolice
au fost suspectate la 17 copii (6.77%). Anomaliile congenitale au fost diagnosticate la 155 de copii (61,75%),
datele au fost comparate cu materialele din Departamentul de Statistică (166 de
cazuri pentru 2024). Cele mai frecvente au fost anomaliile multiple – 41
(26,45%)/47 (28,31%), anomaliile sistemului musculo-scheletic – 31
(20,0%)/21 (12,65%), și anomaliile sistemului cardiovascular – 29 (18,7%)/39
(23,49%).
Au fost 29 (11,55%) de cazuri de anomalii cromozomiale confirmate,
dintre care sindromul Down a reprezentat 12 (4,78%), sindromul Turner într-un
caz (0,39%) și 2 (0,79%) cazuri de sindrom Edwards. Au fost 14 (5,58%)
cazuri de aberații cromozomiale, inclusiv 6 (2,39%) pacienți cu aberații
neechilibrate. Fenotipic, au fost 2 cazuri de epidermoliză bulosă și o familie (5
membri) cu 1 caz de neurofibromatoză, când diagnosticul a fost pus doar după
nașterea primului copil.
Concluzii. Printre femeile consiliate, o parte semnificativă avea vârsta
de 35 de ani și peste, ceea ce a necesitat amniocenteză. Două treimi dintre
copiii consiliați au anomalii congenitale, a căror structură corespunde datelor
de la Departamentul de Statistică și EUROCAT.
Introduction. Genetic consultations at large medical institutions are
carried out in cases of suspected hereditary or congenital diseases, as well as
for prenatal diagnostics. In children's hospitals, the majority of consulted
patients are children of various ages, women at different stages of pregnancy,
and couples aiming for family planning or dealing with reproductive disorders.
Scope of the study: General analysis of the counseling work of a
medical geneticist based on one year of clinical activity at the Genetic Center
MSPI Mother and Health.
Materials and methods. Was carried out a retrospective observational
study using the materials from the Patients Admittance Register, form No.
074/e, approved by 828 on October 31, 2011, for the year 2024. Were analyzed
the results of 782 genetic consultations at the Genetic Center MSPI Mother and
Health.
Results of the study. Out of 782 patients, 336 were women at various
stages of pregnancy (49.74%), of which 53 were consulted once (13.62%), and
393 children (50.26%), of which 251 were consulted once (63.87%). 10
patients (18.87%) were consulted during their first pregnancy. The age of 23
women was under 35 years (43.4%), while the age of 30 women (56.6%) was
over 35 years. 16 women (30.19%) were recommended amniocentesis, of
which in 10 cases (18.87%) results were confirmed as normal, and in 4 women
(7.55%) anomalies of the fetus were detected. In all cases, the pregnancy was
continued.
A total of 393 children were consulted, of which 251 were seen once
(53.87%). 171 children counseiled (68.13%) were under the age of one, 40
children (15.94%) were under 5 years old, and 40 children (15.94%) were
under 16 years old. A karyotype was recommended to 27 children (10.76%),
MLPA for the diagnosis of microdeletion syndromes was recommended to 16
children (6.37%), 6 children were tested for oncogenes (2.39%), and 7 children
(2.79%) were tested for progressive neuromuscular diseases. Single gene diseases were suspected in 26 children (10.36%), and metabolic diseases were
suspected in 17 children (6.77%).
Congenital anomalies were diagnosed in 155 children (61.75%), the
data was compared with the materials from the Department of Statistics (166
cases for 2024). The most common were multiple anomalies – 41 (26.45%)/47
(28.31%), anomalies of the musculoskeletal system – 31 (20.0%)/21 (12.65%),
and anomalies of the cardiovascular system – 29 (18.7%)/39 (23.49%).
There were 29 (11,55%) cases of confirmed chromosomal
abnormality, of which Down syndrome accounted for 12 (4,78%), Turner
syndrome in 1 (0,39%) case and 2 (0,79%) cases of Edwards syndrome. There
were 14 (5,58%) cases of chromosomal aberrations, including 6 (2,39%)
patients with unbalanced aberrations. Phenotypically, there were 2 cases of
epidermolysis bullosa and one family (5 members) with 1 case of neurofibromatosis, when the diagnosis was made only after the birth of the first child.
Conclusions. Among the counseled women, a significant part was
aged 35 and older which required amniocentesis. Two-thirds of the counseled
children have congenital anomalies, the structure of which corresponds to the
data from the Department of Statistics and EUROCAT.