Maternal FMR1 alleles expansion in newborns during transmission: a prospective cohort study.

INTRODUCTION: The CGG repeats in the 5' untranslated region of the fragile X mental retardation 1 gene (FMR1) gene shows increased instability upon maternal transmission. Maternal FMR1 intermediate (45-54 repeats) and premutation (PM: 55-<200 repeats) alleles usually expand to full mutation (>200 repeats) alleles in offspring and consequently, cause fragile X syndrome (FXS) in them. METHODS: In a prospective cohort study, Pakistani pregnant women in prenatal care were first screened for FMR1 expanded alleles. In the follow-up, pregnancy outcomes in women carrying FMR1 expanded alleles were recorded and their newborn offspring were also screened for FXS. RESULTS: In a total of 1950 pregnant women, 89 (4.6%) were detected carriers for FMR1 expanded alleles; however, rates of detection of expanded alleles were found significantly high in women with a history of FXS. In addition, miscarriages and birth of affected newborns with FXS were significantly more common in women carrying large size PM alleles and had a history of FXS (P = 0.0494 and P = 0.0494, respectively). CONCLUSIONS: The current study provides the first evidence of screening Pakistani pregnant women for FMR1 expanded alleles in prenatal care. Moreover, the miscarriage was also detected as a clinical predictor for FXS. IMPACT: Offspring would have a higher risk of developing FXS due to maternal FMR1 alleles expansions during transmission. This is the first prospective cohort study in Pakistan for finding FMR1 allelic status of pregnant women and their newborn offspring in follow-up. The robust offspring risk for FXS estimated in this study may be valuable information for genetic counseling of women carriers for FMR1 expanded alleles. The family history and miscarriage were detected as effective indicators for FXS carrier screening in Pakistani women.

Feto-Maternal Outcomes Of Maternal Sepsis: A Snapshot Of The Illness.

BACKGROUND: Maternal sepsis is a life-threatening condition with serious adverse feto-maternal outcomes. This descriptive cross-sectional study aimed to study the incidence of common feto-maternal outcomes of maternal sepsis in our hospital. METHODS: Pregnant females with singleton pregnancy as per inclusion/exclusion criteria were enrolled in the study. A detailed medical history was taken and physical and obstetrical examination was done. They were investigated for the cause of their febrile illness and managed as per department protocols. Data was recorded in a pre-designed pro forma. RESULTS: The most common cause of infection was UTI (32; 42.6%) followed by genital infections (20; 26.7%) and respiratory tract infections (15; 20%). In 8 (10.7%) patients, the cause couldn't be found. Only one patient developed sepsis and was admitted to the medical ICU. That pregnancy resulted in PROM and an infant with low birth weight was delivered. Both the mother and the child survived and were discharged from the hospital. There was no mortality in our study group. CONCLUSIONS: Though sepsis was associated with adverse feto-maternal outcomes in our study, the study design prevents us from drawing any conclusions from this study concerning maternal sepsis in our region. Further research is needed to determine the true magnitude of the problem.

Outcome Of B-Lynch Application In Patients With Post-Partum Hemorrhage Following Cesarean Section.

BACKGROUND: The most common cause of post partum hemorrhage after a cesarean section is uterine atony. Aims and Objective: The main aim of this study was to examine the outcomes of the B-Lynch procedure in patients who experienced primary PPH after cesarean section. METHODS: This study spanned one year, from August 2020 to August 2021, at Ayub Teaching Hospital. Patients who developed post-partum hemorrhage after a cesarean section were enrolled in this study and a thorough review of their records was conducted to identify those who received B-Lynch sutures and assess the resulting outcomes. RESULTS: Out of the 87 patients who experienced PPH, 24 (27.6%) patients received the B-Lynch procedure. Among these 24 patients, only two (8.3%) needed hysterectomy, while the remaining 22 successfully recovered after receiving the B-Lynch procedure. CONCLUSIONS: The B-Lynch technique proves to be a safe, effective, and easily applicable method for stopping hemorrhage in patients who experienced significant initial postpartum hemorrhage due to uterine atony.

Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation.

PURPOSE: Women of reproductive age who carry fragile X premutation (PM) alleles have 56 to 200 CGG repeats in the 5'-untranslated region of FMR1 gene are at increased risk for producing children with intellectual disabilities (ID) or autism spectrum disorders (ASD) due to expansion of PM alleles to full mutation alleles (> 200 repeats) during maternal transmission. METHODS: In present study fragile X PM carrier screening was performed in total 808 women who were consulting primary health care centers for preconception care in Khyber Pakhtunkhwa region of Pakistan between April, 2018 and December, 2020. Polymerase chain reaction (PCR) was performed for detection of PM carrier women and the CGG repeats number was confirmed by Southern blotting and capillary electrophoresis. RESULTS: The prevalence rate for PM carriers among preconception women was found to be 0.7% that was contributed by 0.5% women in risk group (RG1) with family history of ID and 0.2% in risk group 2 (RG2) with family history of ASD. PM carrier women had at least one affected child or sibling. In addition, the preconception women with FMR1 PM alleles were found to be at increased risk for primary ovary insufficiency (RG1: P = 0.0265, RG2: P = 0.0389), postpartum depression (RG1: P = 0.0240, RG2: P = 0.0501) and neuropsychiatric disorders (RG1: P = 0.0389, RG2: P = 0.0432). CONCLUSIONS: Current study provides first evidence of fragile X PM carrier screening in Pakistani preconception women in primary care consultation. Findings of current study may help to improve preconception care and to reduce burden of fragile X associated disorders in our population.

Association Of Risk Factors With Spontaneous Preterm Labour With Intact Foetal Membranes.

BACKGROUND: Spontaneous preterm labour refers to the onset of uterine contractions of sufficient strength and frequency to effect progressive dilatation between 24 and 37 weeks of gestation. The objective of the study was to determine an association between risk factors and spontaneous preterm labour with intact foetal membranes. METHODS: A case control study was designed which was conducted in the Department of Obstetrics and Gynaecology, Ayub Teaching Hospital, Abbottabad. Sample size of 262 subjects was equally divided into two equal groups (131 cases and control each). Non-probability consecutive sampling was used collection of samples. Pregnant women presenting after 24 weeks of gestation with spontaneous preterm labour with intact membranes were considered as cases. While, pregnant women presenting after 37 complete weeks of gestation with normal pregnancy were considered as controls. The diagnosis of bacterial vaginosis was established by Amsel criteria. Asymptomatic bacteriuria was diagnosed by microscopy. Odds ratios were calculated as measure of association with calculation at 95% confidence interval. Level of 5% (p<0.05) was used to test for significant difference. RESULTS: Mean±SD age of cases was 26.97±7.072. Subjects with young maternal age (<20 years) were 27 (10.3%) from cases and 12 (4.6%) from controls (OR=2.575, 95% CI: 1.242, 5.338). The subjects with advanced maternal age (>35 years) were 26 (9.9%) from cases and 15 (5.7%) from controls (OR=0.522, 95% CI: 0.262, 1.039). 25 (19.1%) cases and 6 (4.6%) controls had bacterial vaginosis (OR=4.914, 95% CI: 1.943, 12.426). Asymptomatic bacteriuria was present in 03 (2.3%) subjects from cases and 2 (1.5%) from controls (OR=1.512, 95% CI: 0.248, 9.199). CONCLUSIONS: The study concluded that risk factors like young maternal age and bacterial vaginosis are significantly associated with spontaneous preterm labour with intact foetal membranes. While, association of other risk factors like advanced maternal age and asymptomatic bacteriuria with spontaneous preterm labour is still debatable.

A Two-Year Analysis Of Uterine Rupture In Pregnancy.

BACKGROUND: Uterine rupture, an obstetrical emergency though rare but still has grave implications. Uterine rupture is the occurrence of breach in the wall of uterus. Complete rupture involves complete disruption of uterine wall resulting in spillage of uterine contents into the abdominal cavity whereas an incomplete rupture has intact peritoneum or serosa. The most commonly reported risk factor in developed countries is previous caesarean section whereas in developing countries neglected and obstructed labour are more frequently reported predisposing factors. METHODS: This was a cross sectional descriptive study which was carried out for a period of 2 years from January 2015 to December 2016 in Gynae "A" unit of Ayub Teaching Hospital Abbottabad. RESULTS: In our study frequency of uterine rupture was 0.63%. Previous scar dehiscence was the most common risk factor for uterine rupture. Maternal mortality was 4% out of total 52 ruptured uterus, while 94.2% was perinatal mortality. CONCLUSION: Although uterine rupture can be prevented but its frequency is still high. Therefore, proper antenatal care, health education, utilisation of health facilities is needed to reduce adverse outcome associated with this avoidable condition..

Analysis Of Two Years Cases Of Ectopic Pregnancy.

BACKGROUND: Ectopic pregnancy is the leading cause of pregnancy related deaths in the first trimester. The aim of this study was to evaluate the frequency of risk factors, clinical presentation, diagnostic methods and site of ectopic pregnancy. METHODS: This descriptive cross sectional study was conducted in Gynaecology and Obstetrical Unit-A of Ayub Teaching Hospital Abbottabad from 1st October 2013 to 31st October 2015. All women diagnosed with ectopic pregnancy were included in the study. A predesigned proforma was used to record the details about demographic features, risk factors, clinical features at presentation, diagnostic methods and site of ectopic pregnancy. RESULTS: Out of total 6675 patients admitted during the study period, 45 cases of ectopic pregnancy were diagnosed with frequency of ectopic pregnancy to be 0.65%. Mean age of the patients was 28.98±5.525. Majority of patients were primigravida14 (31.3%), 9 (20.0%) gravida 2, 5 (11.1%) gravida 3, 4 (8.8%) gravida 4, 7 (15.5%) gravida 5, 6 (13.3%) found grand multi out of total 45 ectopic pregnancies, 45% of the patients had no identifiable risk factors, however history of infertility 20 (22.22%), history of Pelvic inflammatory disease (PID) 10 (22.22%), previous ectopic 2 (4.44%) and previous abdominal pelvic surgery 3 (6.67%) were identified as common risk factors of 45 ectopic pregnancies. Out of total 45 sufferers 23 (51.11%) were clinically diagnosed, 20 (44.44%) through abdominal ultrasound and 2 (4.44%) through transvaginal ultrasound. The most frequent clinical presentation was amenorrhea 30 (66.67%) followed by abdominal pain 28 (62.22%), irregular vaginal bleeding 18 (40.00%), asymptomatic patients with routine ultrasound 18 (40.0%) and 10 (22.22%) presented in shock. Twenty-eight (62.2%) of the ectopic pregnancies were found in right sided fallopian tube and 17(37.8%) were found in left sided fallopian tube. The commonest site of ectopic pregnancy was ampulla 29 (64.44%) followed by 11 (24.44%) Isthmus, 4 (8.89%) fimbrial end and 1 (2.22%) were rudimentary horn of uterus out of total 45 ectopic pregnancies. Evidence of 32 (71.1%) patients with ruptured ectopic was recorded. Thirteen (28.9%) were unruptured ectopic. CONCLUSIONS: Amenorrhea and abdominal pain are the most consistent features of ectopic pregnancy.

Frequency of placenta previa in women with history of previous caesarean and normal vaginal deliveries.

BACKGROUND: Placenta previa is known to be associated with previous caesarean deliveries, advanced maternal age, increasing parity, smoking, curettage and myomectomy. This study was carried out to compare the frequency of placenta previa, in women with previous caesareans versus those with normal vaginal deliveries. METHODS: It was one year study conducted at the Department of Obstetrics and Gynaecology Unit B, Ayub Teaching Hospital, Abbottabad. One hundred women were included in the study, 50 in Group A with previous caesarean deliveries, and 50 in Group B with previous normal vaginal deliveries. Frequency of placenta previa in both groups was analysed. RESULTS: Placenta previa was found in one (2%) woman in Group A, and in two women (4%) in Group B. It was not found in para 4 or less in both groups. One woman in Group A and two women in Group B with parity 4 or more had placenta previa (p < 0.05). None of the women with previous one scar had placenta previa, while with previous 2 scars one had placenta previa (p < 0.05). One woman with placenta previa in Group A and both women with placenta previa in Group B were more than 25 years old. Placenta previa was not found in women below 25 years of age. CONCLUSION: Previous one caesarean section did not increase the frequency of placenta previa. Increasing number of scars, increasing maternal age beyond 25 years and increasing parity beyond 4 were associated with placenta previa.