Pregnancy loss rate following amniocentesis

Objective: To determine pregnancy loss rate following amniocentesis in a mainstream urban healthcare centre.Methods: We analysed cases of all pregnant women who underwent Amniocentesis at the Foetal Medicine Unit of Aga Khan University Hospital, Karachi, during 2001 to 2010. Cases of unknown pregnancy outcome were excluded, and after the process of consent, the final study population was 228 patients. Two operators performed the procedure using 22 G needle.Results: The mean age of women in the study was 32 +/- 6 years. The commonest indication of the procedure was a previous baby with Down\u27s Syndrome. Majority 197 (86.6%) cases had a normal karyotype. Down\u27s syndrome was 14 (6.1%). Regarding the outcome of pregnancies, it was normal in 173 (77.3%) cases while 2 (0.8%) intrauterine deaths were reported, one of which was within two weeks of the procedure. The number of pregnancy termination was 27 (11.7%). There was one miscarriage which means the pregnancy loss rate in the study population was 0.4%.Conclusion: In order to have good quality control, healthcare audits are essential on both short-term and long-term basis

Isolated oligohydramnios is not an indicator for adverse perinatal outcome

Objectives: To assess the impact of isolated oligohydramnios on Perinatal outcomes. Methods: A prospective Cohort Study was conducted at the department of Obstetrics and Gynaecology, The Aga Khan University Hospital, Karachi, Pakistan. Pregnant women with isolated oligohydramnios were recruited for the study after obtaining informed consent. The mode of delivery and perinatal outcome were compared with women having normal amniotic fluid. Results: Between 1st May 2005 and 30th December 2005 a total of 421 women were included in this study. Of these 421 women, 71 were exposed and 350 were unexposed. When compared to the unexposed group women with oligohydramnios had significantly lower birth weight babies and were delivered at a significantly earlier gestational age. However there was no statistical difference in the APGAR scores at birth and NICU admissions between the two groups. The number of inductions and caesareans done for foetal reasons were significantly higher in the exposed group. Conclusion: Isolated oligohydramnios is not associated with adverse perinatal outcomes. However, it increases the risk for labour induction and Caesarean section

Sirenomelia, the Mermaid syndrome: case report and a brief review of literature

Sirenomelia, the Mermaid Syndrome is a rare and lethal congenital anomaly with an incidence of one in 60,000 to 70,000 pregnancies. Sirenomelia is characterized by complete fusion of the lower limbs, commonly associated with renal agenesis, absent external genitalia and other gastrointestinal defects. Another pathognomonic finding is the presence of single umbilical, persistent vitelline artery which is the chief distinguishing anatomic finding from Caudal Regression Syndrome. We report a case of termination of pregnancy done on the basis of ultrasound diagnosis of bilateral renal agenesis with no liquor volume. The foetus was identified to have characteristic features of Sirenomelia at the time of termination

Association of gestational weight gain and pre-pregnancy body mass index with adverse pregnancy outcome

Objective: To determine the association between gestation weight gain (GWG) and adverse pregnancy outcome in a Pakistani population.Study Design: Analytical study.Place and Duration of Study: The Aga Khan University, Karachi, from February 2003 to 2007.Methodology: This study used secondary data of 4,735 women from a large cohort study on fetal growth. Pre-pregnancy BMI was categorized according to the recommendations from the institute of medicine (IOM, 2009) and gestation weight gain (GWG) was noted. Chi-square test was used to find the association of GWG and pre-pregnancy BMI with low birth weight (LBW), preterm delivery, large for gestational age (LGA), and caesarean section. Logistic regression analysis was performed to control for confounders like age, parity, working status and ethnicity.Results: The prevalence of LBW decreased with increasing BMI. GWG of the population was noted as 8.5 kg. LBW was observed to have an inverse relationship with GWG. Women below the age of 19 were twice more likely to have LBW than above 35 years of age. Weight gain above the recommended range were twice more likely to have large for dates. Overweight women were 1.5 times more likely to deliver preterm whereas obese women were 1.4 times more likely to undergo caesarean section than women with normal BMI.Conclusion: The optimal weight gain was estimated to be 8.5 kg to prevent low birth weight in our population. Obese women are more likely to have LGA, caesarean sections and pre-term deliverie

Morbidities of cervical cerclage: experience at a tertiary referral center

The Perinatal morbidity and mortality associated with pre-term delivery is well known. Cervical incompetence or short cervix is a risk factor for the condition and cervical cerclage is the management option for such cases. The objective of the study was to determine the frequency of operative morbidities of cervical cerclage. All women undergoing cervical cerclage from April 2007 to December 2009 at the Aga Khan University Hospital served as the study subjects. Findings suggested that the risk of developing ruptured membranes after cervical cerclage was 10% and that of pregnancy loss was 8.6%. The risk of cerclage-associated complications like rupture of membranes, bleeding and chorioamnionitis was small. The risk of delivery before 34 weeks of gestation was 15.7%

Prenatal diagnosis of rare genetic conditions at a tertiary care hospital in Karachi

This study aims to observe the spectrum of Prenatal Diagnosis of Rare Genetic conditions at a Tertiary care hospital in Karachi. This is a retrospective review conducted at the Aga Khan University Hospital, Karachi from January 2016 to July 2018. All cases undergoing invasive testing by Chorionic villus sampling for indications other than Thalassemia were included. Forty percent of patients in our cohort underwent invasive testing for muscular dystrophies particularly survival motor neuron (SMN) gene deletion and 32% for Cystic Fibrosis. Other rare disorders like JAM 3 mutation, PEX 1 gene, Barters Syndrome, Wardenberg, Bardet-Beidl Syndrome and Lissencephaly accounted for 28%. Sophistication in laboratory technology and DNA banking has improved the prenatal diagnosis of rare genetic disorders particularly SMN gene deletion. Integrated care involving foetal medicine specialist, Paediatric geneticist, and dedicated Laboratory personnel improves Counseling and Diagnosis of rare genetic conditions. Provision of dedicated nursing staff along with strengthening of welfare facility for non-affording patients would improve the uptake of invasive testing

The accuracy of ultrasound in the diagnosis of congenital abnormalities

Objective: To determine the accuracy of ultrasound in the diagnosis of congenital abnormalities at the Aga Khan University Hospital, Karachi.Methods: The data of congenital abnormalities was obtained from the obstetrical database and medical records of all cases complicated by congenital abnormalities, delivering from January 2001 to December 2003 and was reviewed. Antenatal ultrasounds had been performed by operators with different level of experience. In addition this data was retrieved from the termination and Congenital anomaly register. A structured data collection form was used to collect information of different variables of interest.Results: Congenital abnormalities, complicated 2.8% (n=170), of all deliveries, including all cases of termination of pregnancy, stillbirth and live births. Out of the total, 11.6% occurred in women above the age of 35 years. Consanguinity was found in 18.2% cases. Prenatal diagnosis was made in just under half of the cases (48.8%). Central nervous system and renal abnormalities were commonly diagnosed. However, facial defects, heart defects or skeletal defects were more commonly missed.Conclusion: Antenatal ultrasound successfully diagnosed foetal abnormalities in 48.8% of cases, and more than 90% Central Nervous system defects and renal abnormalities. In contrast about a quarter of Cardiac defects and none of the facial defects were detected. Based on these findings we recommend that the Sonologist should incorporate four chamber view of the heart and also look at the face carefully

Analysis of amniotic fluid specimens for common chromosome disorders using interphase fluorescence in situ hybridization

Objective: The aim of the study was to examine the usage of multi colour FISH technology as an adjunct to conventional cytogenetics for the prenatal diagnosis of aneuploidy in interphase nuclei from high risk pregnancies.Methods: Amniotic fluid samples were collected for interphase FISH analysis using DNA probes for chromosomes 13, 18, 21, X and Y. All the probes were directly labeled with fluorescent molecules. Fluorescent signals were observed under a microscope. A minimum of 100 nuclei with defined hybridization signals were counted for each probe. Results: Seventy-eight amniotic fluid samples were received for FISH analysis. The average age of mothers and their gestational ages were 33 years and 17.5 weeks respectively. Triple test screening was positive in 39.5% of the women followed by advanced maternal age and ultrasonographic abnormalities. Interphase FISH was performed on 76 specimens whereas 2 samples were rejected because of blood contamination. Aneuploidy was identified in 6 out of 76 specimens. Two cases of trisomy 21, two cases of trisomy 18 and one case of monosomy X were detected. In addition, one case showed 10% mosaicism for trisomy 21. Initially 4 (5.3%) samples were uninformative due to technical reasons but gave acceptable scoring signals when reanalyzed. Conclusion: This study has demonstrated that interphase FISH is a rapid and a reliable technique for the enumeration of chromosome number in uncultured amniocytes. Clinicians can use it for making early decisions necessary for the management of high risk pregnancies ultimately saving patients from anxiety and psychological stress (JPMA 57:189;2007

Twin chorionicity and prospective stillbirth risk: experience at a tertiary care hospital

Objective: To determine the prospective risk of stillbirth, perinatal death and neonatal morbidities in twins. Methods: This retrospective cohort study was conducted at the Aga Khan University Hospital, Karachi, and comprised cases of twin pregnancies from January 2001 to December 2012. . Cases of both monochorionic diamniotic and dichorionic diamniotic twin pregnancies were included. SPSS 19 was used for data analysis. Results: Of the 394 cases, 84(21.3%) were monochorionic diamniotic twins and 310(78.7%) were dichorionic diamniotic twins. There were no cases of stillbirth beyond 30 and 34 weeks in monochorionic and dichorionic twins, respectively. Neonatal mortality stood reduced beyond 36 weeks of gestation in both groups. Neonatal morbidity reduced beyond 35 weeks of gestation in both groups. Conclusion: Perinatal mortality and morbidity in twin gestation decreased as the gestation advance

Spontaneous uterine rupture at 28 weeks: A case report

Abstract Spontaneous Uterine rupture is associated with massive intra-peritoneal bleed which can be fatal if not recognized. We report a case of 32 year old multigravida at 28 weeks of gestation with history of liver cysts, previous caesarean and uterine curettage, who presented with acute abdominal pain and tenderness; ultrasound revealed placenta percreta. CT abdomen showed haemoperitoneum. The patient underwent emergency caesarean hysterectomy due to uterine rupture at the cornual site