Profile of 208 patients with inborn errors of immunity at a tertiary care center in South India.

Primary immune deficiencies or inborn errors of immunity (IEI) are a heterogeneous group of disorders that predispose affected individuals to infections, allergy, autoimmunity, autoinflammation and malignancies. IEIs are increasingly being recognized in the Indian subcontinent. Two hundred and eight patients diagnosed with an IEI during February 2017 to November 2021 at a tertiary care center in South India were included in the study. The clinical features, laboratory findings including microbiologic and genetic data, and treatment and outcome details were analyzed. The diagnosis of IEI was confirmed in a total of 208 patients (198 kindreds) based on relevant immunological tests and/or genetic tests. The male-to-female ratio was 1.8:1. Of the 208 patients, 72 (34.6%) were < 1 yr, 112 (53.8%) were 1-18 years, and 24 (11.5%) were above 18 years. The most common IEI in our cohort was SCID (17.7%) followed by CGD (12.9%) and CVID (9.1%). We also had a significant proportion of patients with DOCK8 deficiency (7.2%), LAD (6.2%) and six patients (2.8%) with autoinflammatory diseases. Autoimmunity was noted in forty-six (22%) patients. Molecular testing was performed in 152 patients by exome sequencing on the NGS platform, and a genetic variant was reported in 132 cases. Twenty-nine children underwent 34 HSCT, and 135 patients remain on supportive therapy such as immunoglobulin replacement and/or antimicrobial prophylaxis. Fifty-nine (28.3%) patients died during the study period, and infections were the predominant cause of mortality. Seven families underwent prenatal testing in the subsequent pregnancy. We describe the profile of 208 patients with IEI, and to the best of our knowledge, this represents the largest data on IEI from the Indian subcontinent reported so far.

Ultrasound-guided procedures in the management of heterotopic caesarean scar pregnancy - A review of case reports and case series.

BACKGROUND: Heterotopic caesarean scar pregnancy (HCSP) is where one gestational sac implants in the previous caesarean section (CS) scar and another sac implants in the uterine cavity. There is limited evidence on the management of this rare condition. Here, we present a case of HCSP in which US-guided selective reduction of the CS pregnancy (CSP) was performed using potassium chloride (KCl) to salvage the intrauterine pregnancy. We also conducted a review of published case reports to understand the determinants of outcome. METHODS: After a MEDLINE search, 23 case reports were found eligible based on quality assessment and were included in the analysis. A composite-score indicating overall obstetric morbidity was computed, and mixed-effects linear regression was implemented to identify its predictors. RESULTS: US-guided local treatment was the most common mode of intervention for HCSP. The regression analyses revealed that the poor obstetric outcomes, especially antepartum haemorrhage (APH) and postpartum haemorrhage (PPH), were significantly predicted by advanced gestational age at treatment and a higher number of previous CS, irrespective of the mode of treatment. CONCLUSION: These results indicate that a high index of suspicion for an early ultrasound diagnosis and treatment is critical. US-guided techniques are useful in salvaging the intrauterine pregnancy with decreased maternal morbidity. The results are preliminary due to the rarity and a small number of published reports. Every CSP should be recorded in a central international registry to obtain reliable data on the diagnosis and management of women with CSP. Given the rising rates of CS, future systematic studies are warranted.

Monochorionic triamniotic triplets following conventional in vitro fertilization and blastocyst transfer.

Multiple pregnancy in in vitro fertilization (IVF) is on the decline with a reduction in number of embryos transferred. But the risk of monozygotic splitting persists. The risk of monozygotic twinning in women undergoing IVF is reported to be twice that of natural conception, and monochorionic triplets are even rarer at 100 times more than natural conception. We report a case of monochorionic triamniotic (MCTA) triplets following conventional IVF and blastocyst transfer without zona manipulation. This report highlights the possibility of zygotic splitting in IVF in young couples with no family history, in centers with good experience with blastocyst transfer. MCTA triplets carry a high risk of perinatal mortality and morbidity and need multidisciplinary care. Prevention and prediction of zygotic splitting ought to be realized with better reporting and identification of possible risk factors.

Do women seeking care from obstetrician-gynaecologists prefer to see a female or a male doctor?

PURPOSE: To examine whether women seeking care from obstetrician-gynaecologists prefer to see a female or a male doctor or have no preference. METHODS: Five hundred consecutive women attending gynaecology and antenatal clinics were asked to complete a survey questionnaire containing 12 items requiring opinion on whether they want to be seen by a female or male obstetrician-gynaecologist or have no preference. It also contained questions regarding their reasons for the stated preference. RESULTS: Of the consecutive 500 patients that were given the questionnaire, 435 responded (87% response rate). Two hundred and twenty-five patients had no preference, 194 patients preferred female obstetrician-gynaecologist and 16 patients preferred male obstetrician-gynaecologist. The reasons stated by women who preferred to see a female doctor were as follows: religious beliefs-5%, understands problems better-48%, unspecified reasons-6%, issues of personal modesty-41%. All 16 women who preferred to see a male doctor stated the reason as 'understands problems better' (100%). CONCLUSIONS: The majority of women expressed no preference to either gender of their obstetrician and gynaecologists, but significant proportion of the remainder would prefer to see a female doctor when given the choice. Although women gave a variety of subjective reasons for this, demographically it appears that women who are less educated with lower income and being non-white are more likely to prefer to see a female doctor.