Inherited genetic disorders have been a major health concern in the Middle East. In the UAE alone,
- consanguineous marriages increased from 39 per cent to 50.5 per cent in a single generation (1997)
- genetic disorders and congenital anomalies cause for 40.3 per cent of all infant deaths in the country
Most individuals are not fully aware of the exact condition of their health, a person may look healthy, but he/she may have undetected health problems, or be a silent carrier of infectious or hereditary diseases. For couples considering marriage, pre-marital screening helps identify potential health problems and risks for themselves and also their offspring. Couples in a consanguineous marriage run the risk of having children with genetic birth defects such as Down’s syndrome and Thallasemia, as such, it is vital for these couples to be screened in order to aid them to understand their genetics and help them take the necessary precautions or treatments.
Considering the above statistics, Pre-marital screening is made mandatory by the Ministry of Health (MOH), UAE, for the people getting married. Pre marital Screening offered by MOH includes the following tests:
- Thalassemia
- Sickle Cell Anemia
- Hepatitis B
- Sexually Transmitted Diseases
Besides, the regular biochemical analysis of the above mentioned diagnostic tests, it is important to know the genetics of the couples before tying the knots. The genetic screening program can be included with variety of tests, like
- Screen the hereditary conditions
- Screen for fertility problems
- Identify infectious diseases and
- Assess the over all health status
One of the most common tests is the chromosomal analysis or Karyotyping. Blood Karyotyping is a test to examine chromosomes in a sample of cells, which can help identify genetic problems as the cause of a disorder or disease. This test can:
- Count the number of chromosomes
- Look for structural changes in chromosomes
The sample is placed into a special dish and allowed to grow in the laboratory. Cells are later taken from the growing sample and stained. The laboratory specialist uses a microscope to examine the size, shape, and number of chromosomes in the cell sample. The stained sample is photographed to provide a karyotype, which shows the arrangement of the chromosomes.
Certain abnormalities can be identified through the number or arrangement of the chromosomes. Chromosomes contain thousands of genes that are stored in DNA, the basic genetic material.
Normal Results
- Females: 44 autosomes and 2 sex chromosomes (XX), denoted 46, XX
- Males: 44 autosomes and 2 sex chromosomes (XY), denoted 46, XY
The couples showing the correct number of chromosomes, there is less likely that they have any genetic abnormalities in their chromosomes.
Couples having a family history of a particular disorder should go for further analysis of their chromosomes. There are various different Molecular Cytogenetic or DNA tests which might be helpful for the couples, like:
- Alpha thalassemia – deletions
- Apo E Genotyping
- Ataxia telangiectasia - carrier screening by linkage
- Congenital Adrenal hyperplasia- mutation analysis
- Cystic Fibrosis- mutation
- DMD Carrier test
- Fragile X Screen
- G -6-PD one mutation
- Hemophilia A/B, Carrier test
- Parkinson disease(Gly19 ser mutation, by Sequencing)
- Polycystic Kidney dis. (Aut. Rec. ARPKD) PND by linkage
- Rett syndrome MECP2 deletion / duplication
- Rh Genotyping - Both alleles (+/+ or -/-)
- Spinal muscular Atrophy- Carrier screening for deletion
- Thalassemia beta globin gene sequencing
- Wilson Disease-PND By Linkage etc.
The complete list of the test will be found at: www.easternbiotech.com
Advances in molecular biology have led to an explosion in genetics. On a daily basis a gene associated with disease is identified. Geneticists are laying the foundation for an exciting, advanced concept of predictive and diagnostic medical testing. Still people are unaware and confused to take the risk assessment tests or genetic diagnostic analysis. This is due to the burning need for professionals like genetic counselors who would discuss the couple’s unique concerns regarding potential or present genetic disorders that are encountered by them for which they have either carried out a test or are contemplating having a test. In either circumstance they would benefit greatly through a consultation with a genetic counselor. |