Clinical profile and screening of exon 6 and 14 of ABCB4 gene in obstetric cholestasis patients at a tertiary care hospital in Rawalpindi, Pakistan

Author(s):  
Nuzhat Noor ◽  
Sabika Firasat ◽  
Naheed Bano ◽  
Kiran Afshan ◽  
Bushra Gul ◽  
...  

Abstract Objective: Intrahepatic Cholestasis of Pregnancy (ICP) is a rare pregnancy specific disorder. Genetic variants of ABCB4 gene increase ICP risk. This study was conducted to determine frequency of ICP cases presented at a tertiary care hospital in Rawalpindi, Pakistan and to screen for genetic variants of exon 6 and 14 of ABCB4 gene inICP cases. Methods: This analytical study included ICP patients presented at Department of Gynaecology and Obstetrics, Holy Family Hospital Rawalpindi, from February 2017 to May 2017. Sanger’s sequencing was performed using genomic DNA extracted from blood samples of patients and controls. Results: Twenty pregnant women out of 1150 (1.74%) had ICP and enrolled during study period. Overall 95% patients had pruritus and among them 40%, 20% and 10% had a history of miscarriages, stillbirths and familial ICP respectively. Genetic analysis revealed an already reported variant i.e., c.504C>T in exon 6 in thirteen patients and a novel variant i.e., c.1686A>G in exon 14 in five patients. Both variants were not present in controls. In silico analysis suggested that both variants might affect pre-mRNA splicing of ABCB4 transcript. Conclusion: ICP had a frequency of 1.74% among pregnant women. Identification of a novel heterozygous variant in five patients and an already reported variant in thirteen patients reaffirms genetic heterogeneity and role of ABCB4 in ICP etiology. Keywords: intrahepatic cholestasis of pregnancy, ABCB4 gene, Single Nucleotide Polymorphism (SNP), Continuous...

2021 ◽  
pp. 1-7
Author(s):  
Nighat Aftab ◽  
Saima Faraz ◽  
Komal Hazari ◽  
Faiza Badawi Mahgoub

Introduction: Intrahepatic cholestasis of pregnancy (ICP) has been sparsely studied especially in the Middle East. The incidence and outcome of ICP varies worldwide. Its incidence in the Middle East and primary maternal and fetal outcome must be evaluated to ascertain the burden so that appropriate preventive and intervention measures can be formulated and implemented. Objective: To assess the incidence, associations, and maternal-fetal outcomes in ICP. Design: Case-control study. Settings: tertiary care hospital settings affiliated with the academic center in the UAE. Patients and methods: a total of 150 patients were included from October 2016 to September 2018 in the study with 75 cases of ICP and 75 controls matched according to age and date of delivery. The maternal risk factors attributable to ICP were recorded. Biochemical profile of mothers was monitored. Maternal and fetal outcomes were compared in 2 groups. Main outcomes measured: incidence and associations of ICP were evaluated. Maternal and fetal outcomes were compared in cases and controls. Sample size: 150. Result: The incidence of ICP in our study in the UAE was 1.0%. ICP has significant association with past obstetric cholestasis history (p value <0.01, odds ratio [OR] 9.3, 95% CI: 2.1–41.8), gestational diabetes (p value <0.05, OR 2.0, 95% CI: 1.0–3.8), pre-eclampsia (p value <0.05, OR 7.2, 95% CI: 1.6–33.1), and undergoing induction of labor (p value <0.01, OR 8.1, 95% CI: 3.7–17.8). The maternal bile acid level above 40 μmol/L is ­associated with higher chances of preterm delivery (p value <0.01, OR 8.2, 95% CI: 3.0–22.5), intrauterine fetal demise (p value <0.01), low birth weight (p value <0.01, OR 13.6, 95% CI: 4.2–43.5), respiratory distress (p value <0.05, OR 15.5, 95% CI: 1.8–132.7), poor Apgar score (p value <0.05, OR 12.720, 95% CI: 1.5–111.4), and NICU admissions (p value <0.01, OR 9.0, 95% CI: 1.8–45.9). Conclusion: ICP mothers have low incidence in the UAE and significant association with gestational diabetes and pre-eclampsia. High maternal bile acids above 40 μmol/L have poor fetal outcomes.


2021 ◽  
Vol 71 (5) ◽  
pp. 1852-56
Author(s):  
Rabiah Anwar ◽  
Kashif Razzaq ◽  
Aysha Shahid ◽  
Afeera Afsheen ◽  
Amera Tariq ◽  
...  

Objectives: To evaluate the principal risk factors associated with development of intrahepatic cholestasis of pregnancy (ICP) in patients presenting to a tertiary care hospital. Study Design: Case control study. Place and Duration of Study: Department of Gynaecology and Obstetrics, Pakistan Naval Ship Shifa Hospital Karachi, from Jan to Dec 2019. Methodology: All pregnant women with symptoms of intrahepatic cholestasis of pregnancy confirmed on history, examination and investigations were included. A comparison cohort of pregnant women with neither hepatobiliary nor medical illness associated with pregnancy was selected. Comparison of risk factors was done between both the groups. Results: Out of 6932 obstetric patients, 90 (1.29%) had intrahepatic cholestasis of pregnancy. Pruritis was cardinal symptoms in all (100%) the patients followed by excoriation marks (75.55%). Intrahepatic cholestasis of pregnancy was significantly found in women with multiple pregnancy (OR=1.81; 95% CI 0.51-6.42), antecedent intrahepatic cholestasis of pregnancy (OR=36.81; 95% CI 8.53-158.79), family history of intrahepatic cholestasis of pregnancy (OR=17.80; 95% CI 2.29-137.91) and history of pruritis with obstetric cholestasis of pregnancy use (OR=16.25; 95% CI 0.91-289.08). Conclusion: Intrahepatic cholestasis of pregnancy was observed in less than two percent cases. Risk of intrahepatic cholestasis of pregnancy was found to be increased with multiple pregnancies, antecedent intrahepatic cholestasis of pregnancy, family history of intrahepatic cholestasis of pregnancy and history of pruritis with prior obstetric cholestasis of pregnancy use.


2021 ◽  
pp. 1-8
Author(s):  
Naimshree Sonkar ◽  
Malay Banerjee ◽  
Suman Gupta ◽  
Absar Ahmad

Introduction: Asymptomatic bacteriuria (ASB) is the presence of actively multiplying bacteria within the urinary tract with absence of any symptoms, resulting in adverse pregnancy outcomes. This research study was done in order to review prevalence, antimicrobial susceptibility profile, and factors associated with ASB occurring in female patients who are pregnant and being treated at a tertiary care hospital in Lucknow, India. Method and Materials: This is a cross-sectional study done among 216 pregnant women attending a hospital for antenatal check-ups. Clean catch midstream urine samples were collected and examined microscopically, and semi-quantitative culture was done on blood agar and MacConkey agar. Isolates were identified by colony morphology and biochemical tests, and antimicrobial susceptibility testing was done by using the Kirby-Bauer method. Results: Of the 216 pregnant women, 36 (16.7%) tested positive for ASB. The female gestational period, haemoglobin level, and BMI were significantly associated with ASB. Logistic regression also showed that higher haemoglobin level was less likely to ASB (AOR = 0.42, 95% confidence interval: 0.202–0.88, p = 0.021). The predominant and usual isolates were E. coli (n = 22, 61.1%), followed by Cons (n = 6, 16.7%), and S. aureus (3, 8.3%). All Gram-negative isolates were mostly sensitive to most of the drugs like piperacillin-tazobactam, cefepime, nitrofurantoin, and meropenem but were 100% resistant to ampicillin. Similarly, Gram-positive isolates were sensitive to ampicillin, vancomycin, linezolid, and nitrofurantoin but 100% resistant to co-trimoxazole. Conclusion: The present study shows the existence of ASB was 16.7% among women who are pregnant. Pregnancy duration, haemoglobin level, and BMI were significantly associated with ASB. The isolates identified more frequently were E. coli (61.16%), Cons (16.7%), and S. aureus (8.3%). All isolates which were Gram-negative were mostly sensitive to most of the drugs but were 100% resistant to ampicillin. Similarly, Gram-positive isolates were sensitive to most of the drugs but 100% resistant to co-trimoxazole.


Author(s):  
Bhawna Sharma ◽  
Neetu Arora ◽  
Kusum Dogra ◽  
Kamal S. Negi

Background: Maternal, fetal, and neonatal outcomes in parturients with intrahepatic cholestasis of pregnancy (ICP) have been retrospectively documented. We aimed to present pregnancy outcomes of parturients with ICP who underwent delivery. The study was conducted during a 1-year period in a tertiary care centre.Methods: Data from 1 January to 31 December 2017 were collected to identify parturients with ICP.Results: Almost 3/4th of births came to a vaginal delivery (76.74%) and only 10 parturients had cesarean delivery. 4 of 10 parturients underwent nonelective cesarean section, while 6 had elective cesarean delivery. 15.15 % vaginal deliveries were instrumental. The most common indications for emergency LSCS and instrumental deliveries was fetal distress followed by failure to progress of labour. Most births occurred at or after 37 weeks of gestation (65%).  Regarding neonatal outcomes in terms of birth weight and Apgar scores at 1 and 5 min, they were positive, as well.  None of the babies had Apgar score < 7 at 5 minutes. No case of perinatal death was observed.Conclusions: Although the results were generally positive, larger studies need to be conducted to evaluate the maternal and fetal outcomes in ICP and correlation with serum bile acid levels.


2016 ◽  
Vol 9 (3) ◽  
pp. 354 ◽  
Author(s):  
BarunBhai Patel ◽  
Pranaya Gurmeet ◽  
DatttreyaRamkrishna Sinalkar ◽  
KapilH Pandya ◽  
Ajoy Mahen ◽  
...  

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