Résumé
Background & objective: Genetic factors could play an important role in the outcome of pregnancy. This study was carried out to identify risk factors that result in adverse pregnancy outcome and to develop a system of screening and referral to a tertiary hospital equipped with facilities for diagnosis and management of such high risk pregnancies. Methods: District level hospitals close to the participating centers e.g. All India Institute of Medical Sciences, New Delhi, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, BJ Medical College, Pune, St. John Medical College, Bangalore and Genetic Research Center, (ICMR), Mumbai, were selected. Pregnant women < 28 wk gestation attending antenatal OPD of selected district hospitals were included. All eligible women who gave consent for participation in the study, were screened using a predesigned proforma based on family history, past pregnancy history, history of genetic disease/ congenital malformation in previous child and history of present pregnancy. Pregnancy outcome was noted. Results: There was statistically significant difference in the outcome of pregnancy in the following groups: (i) past pregnancy history of 3 or more spontaneous abortions (RR= 3.9; CI=1.17-9.02); (ii) still birth (RR= 2.5; CI= 1.41-4.48); (iii) previous child with neurol tube defect (NTD) (RR=2.3; CI= 1.22- 4.60); and (iv) previous child with congenital malformation (RR=2.2; CI = 1.11- 4.35). Interpretation & conclusion: A sample questionnaire may be used for screening of pregnant women at risk of having and adverse outcome. Also screening of pregnant women for thalassaemia carrier state and maternal serum α-foetoprotein (AFP) for NTD may be useful.