Blood tests spot gene flaws

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Hyderabad: Compulsory blood screening for couples would go a long way in reducing genetic disorders, claimed researchers and gynaecologists during World Preven-tion Day of Genetic Diso-rders and Birth Defects, which was observed on Thursday.
Blood screening can help identify causes of genetic disorders and would also help reduce the socio-economic burden on society. Researchers and health experts have often urged the government to take up mass screening programmes, but nothing has been done, said health experts.
Issues of infrastructure, screening facilities and covering the huge population have been major handicaps for the government. However, experts feel that the manner in which HIV/AIDS has been tackled shows that the government can undertake such huge programmes by involving community wor-kers and the existing health infrastructure to create awareness about the disorders.
Prof. A. Jyothy, director of Institute of Genetics and Hospital of Genetic Diseases, said, “The first hurdle in identifying genetic disorders lies in the inability of medical professionals to evaluate high risk pregnancies. We have been working towards sensitising medical staff in public health units to direct such cases to the institute for further evaluation. In the last three years, 5,000 cases were screened and 550 abnormalities detected.”
Detection is possible by 11 to 12 weeks of pregnancy and with 3D scanning. Gynaecologists have found cysts in kidneys, abnormal spines and face developm-ent and congenital defects.
The reasons for genetic disorders are largely consanguineous marriages, reaction to medicines — especially anti-epileptic drugs — exposure to radiation or weak semen due to diabetes or chemotherapy drugs.
The most common disorders in AP are thalassemia, which accounts for 10 per cent of the population, and Down’s Syndrome, which occurs in one in 800 live births.Dr B. Srinath said, “Most couples come to us after their first child is born with Down’s Syndrome. This makes it very important to have strong pre-natal diagnosis as it will go a long way in controlling the diseases.”
Stress, environment share blame
Stating that genes alone can’t be blamed for birth defects, health experts say that factors like pollution, under nourishment and toxicity are also responsible.
In rural areas, men working in cement factories, fertiliser plants and pesticide industries often suffer due to constant exposure to chemicals. Dr T. Sunita, foetal medicine specialist of Osmania General Hospital, said, “In these cases the men carry various diseases due to which their sperm is poor.
Sometimes, the chemicals that they inhale cause sporadic mutations which are transmitted to the foetus resulting in abnormality. Ninety per cent of women in these marriages suffer abortions because the womb does not allow an abnormal child to stay in it. It is the natural process of elimination.
“When they come to us, we find that their environment is the reason for these problems.” she added. In urban areas, stress is the major factor apart for lifestyle diseases like diabetes and hypertension.
Gynaecologist Dr A. Manjula of Beam Hosp-itals says, “High stress levels reduce the quality of sperms. Once the sperm quality is low, chances of abnormality are high. Young men diagnosed with cancer are advised to store their semen before going for chemotherapy as the damage due to the treatment leaves very little chance for a healthy baby. In women, we find that absorption of food is not at an optimum level resulting in undernourishment.
The combination of right foods is very important for the body to absorb and use it.”Women suffer from many metabolic changes early, putting them in the high risk zone.