ABSTRACT
Background: Congenital malformations (CMs) represent a major cause of admission in most of the NICU all over the world.They represent a defect in the morphogenesis during early fetal life. With the advances in delivery and newborn care, CMshave emerged as one of the most common causes of perinatal mortality.Objective: The objective of this study was to determine the prevalence and pattern of CMs among neonates in a teaching hospital.Materials and Methods: The retrospective study of live neonates from newborn to 28 days of age both inborn and outbornadmitted to the unit irrespective of their general condition with CMs comprised the study population. Details of investigations likeultrasonography, radiology, echocardiography, laboratory studies have done were noted from the case record. Their outcomein the form of morbidity, hospital stay, and mortality was analyzed.Results: In 2132 babies, with malformations were 87 (4.08%). Of which inborn babies were 3.9% and outborn babies were 4.8%.Of the malformed babies were 54% of male and 45% of female, 1% was DSD. Cesarean delivery was 63.2%, other modes were36.8%. The cardiovascular system was involved in 35.6% of babies, followed by the musculoskeletal system (26.4%), then thegenitourinary system 13.8%, gastrointestinal (9.2%), and central nervous system (10.3%). Maternal risk factors associated withmalformations were maternal diabetes in 2.3%, age between 21 and 30 in 87.4%, and consanguinity in 8%. Maximum mortalityoccurred in babies with cardiovascular system malformations (76.5%). Majority of babies with malformations discharged (65.5%)only 19.5% of babies expired and 15% of babies were referred for intervention at a higher center.Conclusions: CMs represent one of the causes of neonatal mortality. Health-care managers must stress on primary preventionin the form of good antenatal care, nutrition, and drugs to decrease the preventable share of CMs. Early detection and timelymanagement are required to decrease mortality
ABSTRACT
The embryonic midline is an area of heightened morphogenetic activity at stage 8-14 [approximately8-32 post ovulatory days]. Interference during this period with any of these activities seriously impairs the development of the midline structures which sometimes include the more lateral rudiments such as the limb buds. The caudal regression syndrome [CRS] comprises a cluster of congenital malformations of the urogenital, vertebral and hindlimb structures. Often more cranial structures are also malformed in CRS. The aetiology is uncertain. Maternal diabetes is implicated. Increased incidence of CRS in monozygotic twinning has not proved a Mendellian inheritance. Potter sequence, VATER and VACTERAL associations with CRS indicate that the pathogenesis is seemingly more complex than currently understood. Lateral compressive forces, defective-deficient caudal mesoderm, defective tissue interaction, vascular steal, over-distension of the neural tube and a combination of vascular disruption, mesodermal injury and microperfusion abnormalities are some of the many suggested pathogenetic mechanisms. An experimental mouse model in which all-trans retinoic acid [RA] is administered on day 8 of gestation resulted in 100% incidence of CRS in our laboratory. Depending on the dose of RA, caudal regression and agenesis follow. Regression involves haemorrhage, oedema, tissue disruption and cell death and in agenesis, the caudal mesoderm fails to develop and the caudal neural tube is over distended. These observations are suggestive of a significant role for vascular disruption, mesodermal injury and defective microperfusion abnormalities in the pathogenesis of CRS