Genetic Counselling Unit
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Genetic Counselling Service Unit
Coordinator:
Prof Ibtessam M. Ramzy Hussein
Assistant :
Prof Mohammed Al-Qahtani
 
 

Vision & Mission:
Vision:The CEGMR is aiming to be a leading Centre for providing quality Genetic counseling services for better management and alleviation of the burden of birth defects in Saudi Arabia.
Mission: To develop efficient and effective models for providing genetic counseling services that ensure the appropriate use and integration of genetic tests and services
To achieve this aim, the CEGMR Genetic Counselling Service Unit has been established which accepts referrals from doctors working in hospitals, government out-patient clinics, specialist clinics, family planning clinics, maternal and child health centers and clinics from the private sector.

Objectives: 
To Provide information to patients or parents regarding the etiology and natural course of the disease in question, as well as the estimated recurrence risk to other family members.
To help parents to make informed decisions on family planning.
To provide early diagnosis and guide management of possible genetic diseases.

List of Services Provided by GCSU: 
The service unit will provide information about clinical features, natural history, genetic basis, recurrence risk, test results, evaluation and treatment.
Genetic counselling service in prenatal diagnosis: expectant mothers will receive prenatal diagnostic investigations including fetal ultrasonography, amniocentesis, or chorionic villus sampling (CVS). Samples (blood, amniotic fluid cells, or CVS) shall be referred for other diagnostic units for chromosomal analysis or molecular studies for providing accurate diagnosis.

Beneficiaries of the Genetic Counselling Clinic: 
A child with any suspected genetic disorder
Multiple congenital anomalies syndromes
Mental disabilities of unknown cause
Recurrent abortions of unknown cause
Suspected sex chromosomal disorders including primary infertility in males and primary amenorrhoea in females
Advanced maternal age (over 35 years old)
Women booked for prenatal diagnosis
Family history of a congenital abnormality or a heritable disorder

Facilities: 
The GSCU has clinical examination facilities such as private room, medical bed, and partition.
Scale for weight and height, stethoscope, blood pressure instrument.
Personal Computer for keeping records and data base for the attending families and patients.
Software for construction the pedigrees and building a data base for keeping records of laboratory investigations such as cytogenetic studies, molecular diagnostic tests, X-ray, ECHO, MRI or any other investigations that are needed for the diagnosis.

Implications in Genetic Counselling:
Patient information obtained during consultation are kept strictly confidential and will not be released (even to family members) without the consent of the patient or patient's guardian.
 
Last Update
4/7/2016 1:41:27 PM