Prevalence and management of anencephaly at Saidu teaching hospital, Swat

Anencephaly is a fatal congenital abnormality characterised by absence of cerebral hemisphere and cranial vault. Overall incidence of anencephaly is 3.8-6.0/1,000 births. This study was conducted to determine the prevalence, diagnosis and management of anencephaly in District Swat. This Prospective study was carried out over a period of one year from January 2007 to December 2007 at Saidu Teaching Hospital/Saidu Medical College Swat. Pregnant women having foetuses with neural tube defects [NTDs] admitted in Labour Room/Obstetric Ward of the Saidu Teaching Hospital Swat were selected as subjects. Those women who delivered normal babies were taken as control subjects. A proper history was taken from each subject and all the relevant information were recorded on a proforma. A total of 5,560 subjects were included in this study. Out of them, 69 were having NTDs, 63 had anencephaly, 4 had spina bifida, and 2 foetuses were having multiple neural tube defects. Prevalence of anencephaly was 11.33/1000 births and that of spina bifida was 0.72/1000 births. Eighty percent [80%] anencephaly and 50% spina bifida were diagnosed by ultrasonography. Most of the cases [52, 75.36%] were delivered through normal vaginal delivery after induction. Twelve [17.40%] had spontaneous vaginal delivery, 4 [5.80%] had caesarean section, and hysterectomy was done in 1 [1.45%]. Anencephaly is common congenital anomaly in Swat. Complications can be prevented by implementing screening program for early diagnosis, treatment, and management. Prevalence can be decreased by folic acid supplementation periconceptionally

Morphological changes in developing rats exposed to valproic acid

Valproic Acid [VPA] is a broad spectrum antiepileptic drug. Its use during pregnancy has been associated with congenital anomalies and hepatotoxicity. This study was designed to assess the effects of VPA on the morphology of the fetuses of albino rats exposed to the drug during various trimesters of pregnancy. Experimental study. In this study pregnant rats were divided into four groups A,B,C and D. Group A [n=10] received VPA in a dose of 500mg/kg/day intraperitonealy [I/p] on days 3, 4 and 5 of gestation. Group B [n=10] received the drug in a dose of 500mg/kg/day I/P on days 8,9 and 10 of gestation. Group C [n=10] received VPA in a dose of 500mg/kg/day I/P on days 16, 17 and 18 of gestation. Group D [n=10] received no treatment and was kept as a control group. On day 21, the rats were euthanized by cervical dislocation. The fetuses were examined for any gross congenital malformation, Congenital malformations were noted in 20% of the fetuses exposed to VPA during second week of gestation i.e. group B. The anomalies included spina bifida [occulta and aperta], exophthalmia, digital abnormalities, cleft lip etc. The other experimental groups showed no such anomalies but high rate of underdevelopment was noted in group A, Moreover, there was significant reduction in body weight and crown rump length [CRL] of the fetuses in group B and C, VPA use during various gestational periods produces deleterious effects in developing rats. So, the use of this drug during pregnancy should be carefully decided

Heterozygous beta thalassemia in parents of children with beta thalassemia major

Beta thalassemia is the most common single gene disorder causing a major genetic health problem in the world. Beta thalassemia is common in Pakistan. This study was conducted to find out the pattern of transmission of beta thalassemia in the affected families. One hundred families having children with beta thalassemia major were analyzed at Postgraduate Medical Institute, Lady Reading Hospital Peshawar, Pakistan, for detection of beta thalassaemia trait. Screening was performed in both maternal and paternal parents and grandparents. Four hundred and fifteen [69.2%] cases of heterozygous beta thalassaemia were detected in the survey of 100 families [600 subjects], having beta thalassaemia major children. Altered red cell morphology such as hypochromia, microcytosis and aniso-poikilocytosis were seen in all these cases. Haemoglobin A2 level ranged 4.0-6.9%, MCV of less than 77 fl and MCH of less than 26.4 pg were found in all the subjects with beta thalassaemia trait. The frequency of consanguineous marriages in parents was first cousin 72%, second cousin 5%, distant cousin 4% and un-related 19%. Consanguinity was found to be present in most of the parents of patients with beta thalassaemia major. This can be minimized by health education, nation-wide screening and provision of genetic counseling to the affected families