- a referral to the Genetic Counselling Clinic,
- the child's medical records book,
- the results of previous diagnostic tests, including psychological assessment, X-ray results (if skeletal system disorders are suspected), sonogram, computer tomography, magnetic resonance imaging and EEG (if available),
- hospital discharge summary reports/release notes,
- photos from previous periods of life (if a significant change occurred due to the disease progression, photos of parents and other relatives, if relevant),
- data on closest relatives (if there are cases of congenital disorders, intellectual disability or other chronic diseases in the family).
The Genetic Counselling Clinic is a unit of the Medical Genetics Department of the Institute of Mother and Child. It carries out specialist activities in areas such as diagnosis of genetically determined diseases, genetic counselling for families with risk factors (families where a genetic disorder has been diagnosed or is suspected) and for families with reproductive failure. It also offers prenatal diagnosis of certain genetically determined developmental abnormalities/diseases. It is one of the oldest and most experienced centres in Poland offering diagnosis of genetic disorders and genetic counselling. The Clinic provides services for approx. 20,000 families.
The doctors employed at the Genetic Counselling Clinic have many years of experience in diagnosis and genetic counselling with regard to genetically determined diseases, including dysmorphias. All the doctors have a specialisation in clinical genetics and, additionally, two doctors have a specialisation in paediatrics. The Clinic uses state-of-the-art diagnostic techniques, including aCGH (the microarray-based comparative genomic hybridisation), for clinical diagnosis as well as cytogenetic-molecular diagnosis.
As regards diagnosis of genetic disorders, the Clinic uses of the research and diagnostic capacities available at the IMC clinics and laboratories as well as capacities of medical genetics departments at medical universities and institutes in Poland and abroad. State-of-the-art computer programmes are used in diagnosis, for instance the dysmorphology database (Oxford Medical Database) and a cytogenetic database (Human Cytogenetics Database (A. Schinzel (LDDB)). The Clinic also carries out consultations within the European Network of Centres of Expertise for Dysmorphology (DYSCERNE) and with the European Skeletal Dysplasia Network (ESDN) to diagnose dysmorphic syndromes.
The Genetic Counselling Clinic cooperates with the Gynaecology and Obstetrics Clinic at the IMC for invasive and non-invasive prenatal diagnosis (the first and second trimester of pregnancy trimester).
Range of diagnostic tests offered by the Genetic Counselling Clinic
The Genetic Counselling Clinic offers competent genetic counselling to individuals and families with a diagnosis or suspicion of a genetically determined congenital disease/disorder. Within genetic counselling offered to patients and their families the Clinic will:
make (verify) the diagnosis of a genetic disease/disorder based on clinical features (analysis of phenotypic characteristics) and results of specialised medical analyses,
analyse and interpret the family history,
plan and conduct specialised diagnostic tests offered by the Molecular Genetics Laboratory and Cytogenetics Laboratory as well as other diagnostic tests (e.g. biochemical, medical visualisation), which are indispensable in order to provide reliable genetic counselling,
discuss medical recommendations (if any) for prenatal testing and related guidance,
offer consultancy for couples with reproductive failure,
interpret genetic risk in the context of the health condition determinants.
Advice from the Genetic Counselling Clinic is recommended in the following cases:
a child born with a congenital disorder/numerous congenital disorders/dysmorphic features,
a child with retarded psychomotor development/intellectual disability among the closest relatives,
retarded physical and psychomotor development, congenital disorders, dysmorphic features in the body structure,
significant growth retardation: height deficit/disharmony in the body structure/suspicion of skeletal dysplasia,
hypotonia or hypertonia (abnormally low or high muscle tone) with concomitant retarded development,
a child born with chromosomal aberration/monogenic disease,
one of the would-be parents carries a structural chromosomal aberration,
a would-be mother carries a gene mutation of an X-linked disease,
a positive family history: cases of congenital disorders, intellectual disability or metabolic disorders in the family,
a would-be mother's/father's disease/teratogenic agents during pregnancy: drugs, X-rays, chemical compounds,
abnormal foetal ultrasound result indicating a possibility of a genetic disorder,
abnormal result of non-invasive prenatal testing (the first/second pregnancy trimester),
mother's age over 35, advanced age of the father.
Before planned pregnancy in the following cases:
the would-be parents are close blood relatives,
bad obstetric history (BOH): spontaneous abortion (SAB), pregnancy loss, neonatal death/infant death/cases of congenital disorders and intellectual disability among relatives.
Deputy Medical Director of the Medical Genetics Department:
Ewa Obersztyn, M.D., PhD
To make an appointment, please call the IMC switchboard:
+48 22 32 77 050, +48 22 32 77 051
Genetic Counselling Clinic, contact phone:
+48 22 32 77 138
Appointments can be arranged:
Monday to Friday, from 7:30–8:30 a.m. and 10:00–noon
Building A, 1st Floor, Room 150