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Health indicators have improved substantially in the last fifty years in India. Average Infant Mortality Rate (IMR) has declined from 146 per 1000 live births to 70 and average life expectancy doubled and now stands at 65. In consequence India is going through health epidemiological transition facing currently double burden of communicable and non-communicable disorders. In children, congenital disorders, both birth defects and genetic diseases, cannot be ignored any more especially when many are curable. Smile Pinky the Oscar winner emphasizes this point.

The five most common worldwide birth defects, which accounted for 25% of all birth defects in 2001, were Congenital heart defects (1,040,865 births), Neural tube defects, such as spina bifida (323,904 births), Haemoglobin disorders, such as thalassemia and sickle cell disease (307,897 births), Down Syndrome (217,293 births) and G6PD enzyme deficiency (177,032 births). No information is available on the prevalence of congenital heart diseases in India but clinically the last four are major problems in India.

Major objectives of the present rural based study are to
 

  • Develop a rural-based module (feasibility study) for control and prevention of four common congenital disorders namely Hemoglobinopathies, Down Syndrome (DS) and Neural tube defect (NTD) through prenatal and neonatal screening programs.

  • Generate baseline epidemiological information on common congenital abnormalities in 1 to 5 years old children.

Operational details


The project, which is financed by the Indian Council of Medical Research, is being conducted in Purandhar taluka of Pune district. It is almost rural with only three towns (population of more than 10,000) namely Sasvad, Jejuri and Nira; the most populous being Sasvad (Population 26,689). According to 2001 census the total population of the area is about 233,000. Number of persons per household is only 5.0. Female literacy is now about 65%. Almost 100% villages have domestic electricity and majority have pucca motor-able all weather roads. There is a robust network of primary health centers, which would be an asset for the project.

The study, in which participation is entirely voluntary, is being conducted in Jejuri/Belsar PHC in Sasvad taluka of Pune district  in Maharashtra using the existing Governmental infrastructure.

Blood samples are collected from pregnant women in the second trimester (15-18 wks). Every sample is screened for triple markers namely AFP, E3 and β hCG and HbA2. All women, without exception, attending clinic participated in the project voluntarily

Summary


Blood samples were collected from 150 pregnant women in the second trimester (15-18 wks). Every sample was screened for triple markers namely AFP, E3 and β hCG and HBA2 ( cellulose acetate electrophoresis). Coverage was found to be 75% for the towns where the ANCs clinics are held and 100% women attending clinic participated in the project voluntarily. Seven cases showed risk higher than 1:250 for trisomy 21 (DS). They were subjected to pre-natal diagnosis (Amniocentesis) for trisiomy 21 or any other chromosomal abnormalities. Three cases had high AFP suggestive of NTD. They were subjected to special USG studies. No case of DS/NTD/ β thalassemia carrier has been detected so far. The participating women appeared to be good nutritionally as judge by their weight, Hb and serum protein levels. Infant showed normal growth pattern. There is a significant drop in fertility, and crude birth rate is estimated to be 11-12/1000 as compared to 20 reported in the last census (2001). This speaks highly of the PHC program. Work has also been initiated to create a rural based birth defect registry.

Pregnant mothers showing high risk, which is determined using a computer software, are subjected to definitive pre-natal diagnostic tests. For DS fetal tissue obtained through Amniocentesis) is subjected to cytogenetic analysis and for NTD special UDG studies are conducted. Out of the 145 pregnant mothers, 16 showed high risk for DS and 3 for NTD. Good news is that no case of DS/NTD/ β thalassemia carrier has been detected so far.