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.

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.. CONCLUSIONS: Perinatal mortality and morbidity in twin gestation decreased as the gestation advanced.

Increased nuchal translucency and adverse pregnancy outcomes.

OBJECTIVE: To assess the adverse outcome in pregnancies with raised Nuchal translucency measurement. METHODS: This retrospective study was conducted at the Aga Khan University Hospital, Karachi, Pakistan between January 2001 and December 2015. Women attending the Fetal Medicine unit for first trimester screening by Nuchal translucency were included in the study. All pregnancies were followed up till delivery. Those with incomplete information about the delivery were excluded from the analysis. Pregnancy outcome was observed in normal Nuchal translucency measurements and in raised Nuchal translucency measurements. RESULTS: Out of the 1941 fetuses, there were 54 (2.8%) with raised Nuchal translucency measurement. Adverse pregnancy outcome was found in 32 (59.3%) of fetuses with raised Nuchal translucency measurement. Invasive testing was done in 15 (27.8%) of pregnancies with raised Nuchal translucency measurement. Among them there were nine (16.7%) cases with abnormal karyotype. It included six (11.1%) cases of trisomy 21, three (5.6%) cases of trisomy 13 and 18. CONCLUSION: Raised Nuchal translucency measurement is associated with adverse pregnancy outcome. One in three fetuses are affected by it. Live birth in this group where there is no aneuploidy is around 3.7%.

Prognostic value of obstetric Doppler ultrasound in fetuses with fetal growth restriction: an observational study in a tertiary care hospital.

OBJECTIVE: To determine the prognostic value of umbilical artery Doppler (UAD) with fetal growth restriction (FGR) and their perinatal outcomes. METHODS: This was a retrospective cohort study of fetuses with growth≤5th centile from 2001 to 2012. Pregnancy outcomes were compared according to UAD findings for 253 cases. Doppler findings were categorized as; Normal End Diastolic Flow (NEDF), Reduced End Diastolic Flow (REDF) and Absent/Reverse End Diastolic Flow (AREDF). Mean and proportion were calculated and odds of perinatal complications were compared by using logistic regression for REDF and AREDF with NEDF at 5% level of significance. RESULTS: The perinatal morality rate was 3.2%. Neonates with abnormal Doppler were at increased risk of cesarean delivery, low birth weights and low Apgar scores. Among the perinatal morbidity, neonatal intensive care unit (NICU) admission was 4.2 and 15.3 times in neonates with REDF and AREDF and similarly the perinatal mortality of AREDF was 12.5 times higher as compared to NEDF. Other morbidities were also much higher in abnormal Doppler groups. CONCLUSION: There is a prognostic value of UAD in predicting the outcomes for FGR fetuses and therefore recommend its use in the conservative management of such pregnancies to reduce perinatal mortality and morbidity.

Risk factors for intraventricular haemorrhage in preterm infants from a tertiary care hospital of Karachi, Pakistan.

OBJECTIVE: To determine the incidence of Intraventricular Haemorrhage in pre-term infants, along with adverse neonatal outcomes associated with the disease. METHODS: The retrospective case control study was conducted at Aga Khan University Hospital, Karachi, and comprised patients' records from January 2004 to December 2009 of preterm babies from 26-35 weeks of gestation who had Intraventricular Haemorrhage of any grade. The diagnosis was confirmed by ultrasound scan. Controls were preterm births matched with the cases according to gestational age (±1 week) and birth weight (±150 grams). SPSS 19 was used for statistical analysis. RESULT: Of the total 201 preterm babies in the study, there were 67(33.33%) cases and 134(66.66%) controls; the respective ratio being 1:2.The incidence of Intraventricular Haemorrhage in the study population was 22.1 per 1000 live births.The odds of developing Intraventricular Haemorrhage was substantially higher in babies with respiratory distress syndrome (odds ratio: 3.77; 95% Confidence Interval: 1.52-9.37; p < 0.004) and who were given mechanical ventilation (odds ratio: 23.6; 95% Confidence Interval: 5.09-109.5; p < 0.001). There was a four-fold increase in risk of Intraventricular Haemorrhage in babies who received surfactant administration (odds ratio: 4.26; 95% Confidence Interval: 1.77-10.22; p < 0.001). Out of 67 cases, 50 (74.6%) re-demonstrated the same grade, 13 (19.4%) were resolved, and 4 (6%) progressed. Overall, there were 38 death; the mortality rate being 56.71. CONCLUSION: The risk of Intraventricular Haemorrhage was substantially higher in preterm neonates with respiratory distress syndrome, etc., and the mortality rate was higher in babies with severe disease.