Patterns and prevalence of congenital malformations

INTRODUCTION: “A Happy Mother Is Obstetrician’s Pride, A Healthy baby is Nation’s pride” This clearly picturises the dynamic role of obstetricians in shaping a happy house, prosperous nation and healthy third generation. With the advent of tremendous advancement of paediatric care, investigations and surgical skills, a new horizon has developed in improving the human stock and decrease the perinatal mortality, the lion share of which is congenital malformations. Thanks to the development of modern technology of ultrasound, MRI, amniocentesis, chorionic villous sampling and Percutaneous umbilical blood sampling which have aided in prenatal diagnosis and has avoided unnecessary surgery, false hopes to the mother and embarrassment to the obstetrician who is the first paediatrician. The rapid development of technology allowing early and accurate prenatal diagnosis of fetal disorder has revolutionised the practice of obstetrics over 20 years. Beginning with simple cytogenetics to detect chromosomal abnormality in amniotic fluid cells, there are new methods that permit rapid detection of mutant genes by using minute quantities of fetal DNA. These techniques coupled with molecular genetics allow detection of a list of inherited conditions that is expanding8 almost daily. Of paramount importance is the ability to provide counselling regarding various screening, diagnostic technique and treatment options. AIM OF THE STUDY: 1. To study the prevalence of congenital malformations in our institute. 2. To study the pattern of malformations. 3. To assess the influence of various risk factors such as Age, Gravidity, Previous Obstetric history, Consanguinity, 1st trimester events on the occurrence of malformations. MATERIALS & METHODS: The present study was conducted at the Institute of Obstetrics and Gynaecology, a tertiary level Government institution at Chennai, Tamil Nadu. The study was conducted for a period of one year from July 2006 to July 2007 taking into account all the deliveries that occurred in our institution. The total number of deliveries for the period was 17890. All the cases booked and unbooked were taken into consideration. Some cases have been diagnosed incidentally in our institution. Some have been referred here with an ultrasound report for either reconfirmation or for termination. All the cases detected to have congenital malformations by an antenatal ultrasound were analysed by detailed questionnaires. A detailed history regarding the patient and husband’s age, parity, occupation, previous obstetric outcomes, family history of malformed babies, degree of consanguinity and the events in the present pregnancy were analysed. Any history of maternal exposure to fever, teratogens, drugs and other environmental factors were ascertained. Enquiries were put forward with regard to maternal medical diseases like diabetes mellitus. Patients were enquired regarding the intake of preconceptional folate. CONCLUSION: Congenital malformations though cannot be prevented totally, can be minimised and if detected earlier will reduce the mental agony in the mother and her family. It can be minimised by prenatal counselling, peri conceptional folate and prenatal diagnosis It has become our professional responsibility to identify those couples who are at risk of having abnormal fetus. Early ante-natal diagnosis results in earlier termination which will decrease the maternal morbitity and the mental health in the mother. Conditions amenable to surgical correction in the neonatal period or in utero treatment can be planned if possible. Broader the diagnosis of birth defects made if Obstetricians, Perinatalogist, Sonologist and Laboratory Personnel work hand in hand