Role of Progesterone Receptor Polymorphisms in the Recurrent Spontaneous Abortions: Indian Case

Background: We attempt to ascertain if the 3 linked single nucleotide polymorphisms (SNPs) of the Progesterone Recepto

Role of Androgen Receptor CAG Repeat Polymorphism and X-Inactivation in the Manifestation of Recurrent Spontaneous Abortions in Indian Women

The aim of the present study was to investigate the role of CAG repeat polymorphism and X-chromosome Inactivation (XCI) pattern in Recurrent Spontaneous Abortions among Indian women which has not been hitherto explored. 117 RSA cases and 224 Controls were included in the study. Cases were recruited from two different hospitals - Lakshmi Fertility Clinic, Nellore and Fernandez Maternity Hospital, Hyderabad. Controls were roughly matched for age, ethnicity and socioeconomic status. The CAG repeats of the Androgen Receptor gene were genotyped using a PCR-based assay and were analysed using the GeneMapper software to determine the CAG repeat length. XCI analysis was also carried out to assess the inactivation percentages. RSA cases had a significantly greater frequency of allele sizes in the polymorphic range above 19 repeats (p = 0.006), which is the median value of the controls, and in the biallelic mean range above 21 repeats (p = 0.002). We found no evidence of abnormal incidence of skewed X-inactivation. We conclude that longer CAG repeat lengths are associated with increased odds for RSA with statistical power estimated to be ∼90%

Early pregnancy HbA1c as the first screening test for gestational diabetes: results from three prospective cohorts

Background More than 90% of gestational diabetes cases are estimated to occur in low-income and middle-income countries (LMICs). Most current guidelines recommend an oral glucose tolerance test (OGTT) at 24–28 weeks of gestation. The OGTT is burdensome, especially in LMICs, resulting in a high proportion of women not being screened. We aimed to develop a simple and effective screening strategy for gestational diabetes. Methods STRiDE, a prospective cohort study, was set up in seven centres in south India and seven centres in western Kenya, and included pregnant women aged 18–50 years of age and at less than 16 weeks of gestation (1c (venous and capillary point-of-care), either alone or as part of a composite risk score with age, BMI, and family history of diabetes, in predicting gestational diabetes at 24–28 weeks of gestation, in two LMICs (India and Kenya) and in a UK multi-ethnic population from the PRiDE study. A key secondary outcome was to assess whether an early pregnancy composite risk score can reduce the need for OGTTs. Gestational diabetes was diagnosed using current WHO criteria. Findings Between Feb 15, 2016, Dec 13, 2019, we enrolled 3070 participants in India and 4104 in Kenya. 4320 participants were included from the PRiDE cohort. Gestational diabetes prevalence by OGTT at 24–28 weeks was 19·2% in India, 3·0% in Kenya, and 14·5% in the UK. Early pregnancy HbA1c was independently associated with incidence of gestational diabetes at 24–28 weeks of gestation. Adjusted risk ratios were 1·60 (95% CI 1·19–2·16) in India, 3·49 (2·8–4·34) in Kenya, and 4·72 (3·82–5·82) in the UK. Composite risk score models that combined venous or point-of-care HbA1c with age, BMI, and family history of diabetes best predicted testing positive for gestational diabetes. A population-specific, two-threshold screening strategy of rule-in and rule-out gestational diabetes using early pregnancy composite risk score could reduce the requirement of OGTTs by 50–64%. For the HbA1c-alone model, the thresholds were 5·4% (rule in) and 4·9% (rule out) in India, 6·0% (rule in) and 5·2% (rule out) in Kenya, and 5·6% (rule in) and 5·2% (rule out) in the UK. Interpretation Early pregnancy HbA1c offers a simple screening test for gestational diabetes, allowing those at highestrisk to receive early intervention and greatly reduce the need for OGTTs. This can also be carried out using point-of-care HbA1c in LMIC

Immediate neonatal outcomes of preterm infants born to mothers with preterm pre-labour rupture of membranes

Background & objectives: With the use of early and appropriate use of antibiotics, outcomes have improved in the mother-infant dyads exposed to preterm pre-labour rupture of membranes (PPROM). This study was undertaken to evaluate immediate neonatal outcomes in infants born before 33 completed weeks of gestation to mothers with PPROM versus without PPROM. Methods: During the study period from January 2013 to December 2013, a total of 182 mother-infant dyads were prospectively included in the study. Among the enrolled, 69 were in the PPROM group and 113 in the control group (no PPROM). Mother-infant dyads in PPROM group were covered with antibiotics. The primary outcome was the combined adverse neonatal outcome consisting of sepsis, necrotizing enterocolitis >Stage II or pneumonia or oxygen at day 28 or cystic periventricular leucomalacia or mortality before discharge. Results: Baseline maternal and neonatal variables were comparable across the two groups, except for higher incidence of singletons, maternal pregnancy-induced hypertension (PIH) in the control group and higher proportion of males, complete steroid coverage and oligohydramnios in the PPROM group. The proportion of infants with combined adverse neonatal outcome was similar between the two groups [odds ratio (OR): 1.43; 95% confidence interval (CI): 0.77-2.6]. Both the groups were comparable for most other neonatal morbidities and outcomes, except screen-positive sepsis (OR: 3.7; 95% CI: 1.17-11.5) which was higher in PPROM group. Interpretation & conclusions: Mothers with PPROM and their newborns when treated with timely and appropriate antibiotics had neonatal outcomes similar to those not exposed to PPROM

Mallory-Weiss Syndrome complicating pregnancy – A rare near miss

Mallory-Weiss syndrome (MWS) rarely occurs during pregnancy and can lead to massive bleed if occurring in the third trimester. Unrecognized MWS may lead to life threatening hemorrhage and shock affecting maternal and fetal well-being. We describe a rare case of MWS in a pregnant patient at 36 weeks of gestation with underlying pre-eclampsia, acute kidney injury, and hemodynamic instability. The possibility of mucosal tears should be kept in mind in the absence of an obvious source of bleeding

Gel picture showing bands for homozygotes (T1) allele, heterozygotes (T1/T2), and homozygote (T2) allele run on 2% agarose.

<p>Lane 3, 4, 5, and 6 are heterozygotes, and lane 13 is homozygous for the T2 allele and the remaining are homozygous for the T1 allele.</p

Genotype distribution of PROGINS insertion; (T1) wild type (no insertion) and (T2) insertion allele.

<p>Genotype distribution of PROGINS insertion; (T1) wild type (no insertion) and (T2) insertion allele.</p

LD plot showing the confidence bounds color scheme where dark grey suggests strong evidence of LD and light grey suggests an uninformative status of LD.

<p>The analysis reveals that exons 4 and 5 inherit as an LD Block.</p

Genotype distribution of the PR mutations; (*1) wild type (G1031, G1978, and C2310) and (*2) mutant allele.

<p>Genotype distribution of the PR mutations; (*1) wild type (G1031, G1978, and C2310) and (*2) mutant allele.</p