COVID-19 vaccine coverage, determinants and inequity amongst refugees and migrants in Pakistan: a cross-sectional study.

OBJECTIVE: Migrants and refugees are at a disadvantage in accessing basic necessities. The objective of this study is to assess the inequity in access, needs and determinants of COVID-19 vaccination among refugees and migrant populations in Pakistan. DESIGN: We conducted a mixed-method study comprising a cross-sectional survey and a qualitative study. In this paper, we will only report the findings from the cross-sectional survey. SETTING: This survey was conducted in different cities of Pakistan including Quetta, Karachi and Hyderabad. PARTICIPANTS: A total of 570 participants were surveyed including refugees and migrants, both in regular and irregular situations. PRIMARY AND SECONDARY OUTCOME MEASURES: The primary outcome of the study was to estimate the proportion of refugees and migrants, both in regular and irregular situations vaccinated against COVID-19 and assess the inequity. The χ2 test and Fisher's exact test were used to determine the significant differences in proportions between refugees and migrants and between regions. RESULTS: The survey showed that only 26.9% of the refugee and migrant population were tested for COVID-19, 4.56% contracted coronavirus, and 3.85% were hospitalised due to COVID-19. About 66% of the refugees and migrants were fully vaccinated including those who received the single-dose vaccine or received all two doses, and 17.6% were partially vaccinated. Despite vaccination campaigns by the government, 14.4% of the refugee and migrant population remained unvaccinated mostly because of vaccines not being offered, distant vaccination sites, limited access, unavailability of COVID-19 vaccine or due to a difficult registration process. Vaccination rates varied across provinces, genders and migrant populations due to misconceptions, and several social, cultural and geographical barriers. CONCLUSION: This study highlights the COVID-19 vaccine coverage, access and inequity faced by refugees and migrants during the pandemic. It suggests early prioritisation of policies inclusive of all refugees and migrants and the provision of identification documents to ease access to basic necessities.

Cardiovascular Health and Disease in the Pakistani American Population.

PURPOSE OF REVIEW: This narrative review seeks to elucidate clinical and social factors influencing cardiovascular health, explore the challenges and potential solutions for enhancing cardiovascular health, and identify areas where further research is needed to better understand cardiovascular issues in native and American Pakistani populations. RECENT FINDINGS: The prevalence of cardiometabolic disease is high not only in Pakistan but also among its global diaspora. This situation is further complicated by the inadequacy of current cardiovascular risk assessment tools, which often fall short of accurately gauging the risk among Pakistani individuals, underscoring the urgent need for more tailored and effective assessment methodologies. Moreover, social determinants play a crucial role in shaping cardiovascular health. The burden of cardiovascular disease and upstream risk factors is high among American Pakistani individuals. Future research is needed to better understand the heightened risk of cardiovascular disease among Pakistani individuals.

Cultural Influences on Making Nutritional Adjustments in Type 2 Diabetes in Pakistan: The Perspectives of People Living With Diabetes and Their Family Members.

In Pakistan, type 2 diabetes is widespread, and although dietary recommendations from healthcare professionals are critical to its treatment, cultural norms can have a great influence on the dietary habits of people living with diabetes (PLwD). Understanding the social aspects of the lives of PLwD is crucial when examining the effectiveness of nutritional recommendations and adjustments. This study investigated (1) how PLwD and their family members adjust their nutrition to the recommendations of healthcare professionals to manage type 2 diabetes mellitus (T2DM) and (2) what do PLwD and their family members perceive as enablers and barriers to the necessary nutritional adjustments for managing T2DM. Prime consideration was given to experiences of living in Pakistan as the cultural context. Semi-structured interviews were conducted with 30 PLwD and 17 family members; the data were analysed thematically. Three themes emerged: (i) 'Influence of family system, gender, and age on meals prepared at home': family hierarchy and opinions based on gender and age can enable or hinder nutritional adjustment in meals prepared at home; (ii) 'Temptations of "unhealthy" foods, festivals, cultural interactions, and social etiquette': family/social interactions at home, gatherings, or festivities can affect PLwD's ability to resist temptations to eat foods prohibited by healthcare professionals; and (iii) 'Folk knowledge, folk remedy, and the balance between culture and Western medicine': PLwD and their family members in Pakistan hold strong beliefs concerning foods' medicinal properties. Power dynamics within families need to be considered when making nutritional recommendations. Medical guidelines should acknowledge personal agency and cultural beliefs.

The role of knowledge, primary care and community engagement to improve breast-screening access for Pakistani women in the United Kingdom: A secondary analysis of a qualitative study.

OBJECTIVE: Breast cancer incidence is rising among Pakistani women in the United Kingdom. However, uptake of breast screening remains low. This study aimed to improve access to breast screening for British-Pakistani women by exploring their knowledge of breast cancer and the role of primary care and community networks to support screening access amongst British-Pakistani women. METHODS: We undertook a secondary qualitative analysis of 18 semi-structured interviews with British-Pakistani women from East Lancashire in the United Kingdom. Anonymized transcripts of the interviews were used for a thematic analysis. RESULTS: Three themes were identified in the interviewees' responses: (i) 'Women's knowledge of breasts and breast cancer', which described how a cultural taboo exists around Pakistani women's bodies and around breast cancer; (ii) 'Role of primary care', which detailed how General Practitioners can support informed decisions and offer a trusted and valued information source; (iii) 'Community engagement', which described the potential to disseminate breast-screening information through the whole community, including primary care providers, all family members and mosques. CONCLUSIONS: Our analysis suggested three main targets for future interventions to improve access to breast screening for British-Pakistani women: (i) co-produced strategies to increase knowledge of breasts and breast screening; (ii) greater collaboration with local General Practitioners to support women to make informed choices about screening; and (iii) community engagement involving General Practitioners and community leaders, to inform everyone - not just screening-age women - about breast cancer and screening.

Generational perspective on asthma self-management in the Bangladeshi and Pakistani community in the United Kingdom: A qualitative study.

BACKGROUND: Self-management strategies improve asthma outcomes, although interventions for South Asian populations have been less effective than in White populations. Both self-management and culture are dynamic, and factors such as acculturation and generation have not always been adequately reflected in existing cultural interventions. We aimed to explore the perspectives of Bangladeshi and Pakistani people in the United Kingdom, across multiple generations (first, second and third/fourth), on how they self-manage their asthma, with a view to suggesting recommendations for cultural interventions. METHODS: We purposively recruited Bangladeshi and Pakistani participants, with an active diagnosis of asthma from healthcare settings. Semi-structured interviews in the participants' choice of language (English, Sylheti, Standard Bengali or Urdu) were conducted, and data were analysed thematically. RESULTS: Twenty-seven participants (13 Bangladeshi and 14 Pakistani) were interviewed. There were generational differences in self-management, influenced by complex cultural processes experienced by South Asians as part of being an ethnic minority group. Individuals from the first generation used self-management strategies congruent to traditional beliefs such as 'sweating' and often chose to travel to South Asian countries. Generations born and raised in the United Kingdom learnt and experimented with self-management based on their fused identities and modified their approach depending on whether they were in familial or peer settings. Acculturative stress, which was typically higher in first generations who had migration-related stressors, influenced the priority given to asthma self-management throughout generations. The amount and type of available asthma information as well as social discussions within the community and with healthcare professionals also shaped asthma self-management. CONCLUSIONS: Recognizing cultural diversity and its influence of asthma self-management can help develop effective interventions tailored to the lives of South Asian people. PATIENT OR PUBLIC CONTRIBUTION: Patient and Public Involvement colleagues were consulted throughout to ensure that the study and its materials were fit for purpose.

Exploring the obesity concerns of British Pakistani women living in deprived inner-city areas: A qualitative study.

INTRODUCTION: British South Asians have a higher prevalence of overweight and obesity than the wider population. Bradford (UK), with its high Pakistani presence and levels of economic deprivation, has exceptionally high instances, especially in deprived areas where many Pakistanis reside. British Pakistani women in Bradford are more likely to be overweight and obese. There is uncertainty on how these women can be aided to manage their weight. Therefore, the objective of this study was to explore the obesity concerns of Pakistani women living in deprived inner-city areas of Bradford. METHODS: Three focus groups interviews were carried out with 23 Pakistani women living in deprived areas of Bradford. Data were analysed thematically. RESULTS: This exploratory study identified a wide range of concerns that women had around managing their weight. Participants disclosed distrust in information given around medication, conflicting dietary information and reported low levels of trust in women-only organized physical activities. Cultural barriers were identified, which included the gender role of the woman, the lack of culturally appropriate dietary advice, cultural misunderstandings of what constitutes a healthy diet and healthy weight, the lack of culturally suitable exercise facilities and conforming to family and community expectations. Other concerns were language barriers around a lack of understanding, the inability to read Urdu and reliance on others to translate information. CONCLUSION: These findings have implications for researchers, local authorities, policy makers and others with an interest in reducing the rates of obesity in this population. Recommendations include training health practitioners to be culturally aware of the diet and eating practices of this community, exploring different ways to support socially isolated women to be more physically active at home, addressing physical activity and diet misconceptions and designing obesity management information materials appropriate for a range of literacy levels. PATIENT OR PUBLIC CONTRIBUTION: Public contributors were involved in the development of the interview guide and design of the research. A pilot focus group with participants not included in the present paper was used to help test and refine the focus group questions. Interview transcripts were member checked by participants, and participants assisted with data analysis.

Developing an obesity research agenda with British Pakistani women living in deprived areas with involvement from multisectoral stakeholders: Research priority setting with a seldom heard group.

INTRODUCTION: British Pakistani women have exceptionally high rates of obesity and yet are seldom heard in a research priority setting concerning weight management. The objectives of this study were (i) to ascertain what multisectoral professionals perceive to be the most pressing unmet obesity needs or topic areas that need more research in relation to Pakistani women living in deprived areas of Bradford and (ii) to determine the top 10 obesity health priorities for this group to develop an obesity research agenda. METHODS: A two-step process was adopted using the following: (i) a survey of a wide range of multisectoral professional stakeholders (n = 159) and (ii) a ranking exercise involving Pakistani women living in deprived areas of Bradford (n = 32) to select and prioritize their top 10 obesity health concerns and unmet needs from a list of 31 statements identified in the survey and previous research. Survey data were analysed using inductive content analysis and themes were identified. Themes were translated into statements to be ranked by Pakistani women. The ranking exercise was conducted by telephone either via voice or video call. Data were analysed using a reverse scoring system. RESULTS: Survey responses were grouped into statements reflecting the following three categories: education needs; healthy behaviour barriers and mental well-being. The highest rankings were given by Pakistani women to statements on mental health and the need for education. The top 10 prioritized statements were developed with members of the public into an obesity research agenda that reflected the target population. CONCLUSION: Actively engaging British Pakistani women in setting research priorities provided a unique opportunity to understand the key areas they think are important for future research. The culminating research agenda can be used by researchers to advance the field of obesity research in Pakistani communities, thus producing research outputs that are relevant to and have impact in this population. PATIENT OR PUBLIC CONTRIBUTION: Participants in the ranking exercise collected data. Public contributors were involved in developing the prioritized statements into a research agenda.

Contrasting maternal and paternal genetic histories among five ethnic groups from Khyber Pakhtunkhwa, Pakistan.

Northwest Pakistan has served as a point of entry to South Asia for different populations since ancient times. However, relatively little is known about the population genetic history of the people residing within this region. To better understand human dispersal in the region within the broader history of the subcontinent, we analyzed mtDNA diversity in 659 and Y-chromosome diversity in 678 individuals, respectively, from five ethnic groups (Gujars, Jadoons, Syeds, Tanolis and Yousafzais), from Swabi and Buner Districts, Khyber Pakhtunkhwa Province, Pakistan. The mtDNAs of all individuals were subject to control region sequencing and SNP genotyping, while Y-chromosomes were analyzed using 54 SNPs and 19 STR loci. The majority of the mtDNAs belonged to West Eurasian haplogroups, with the rest belonging to either South or East Asian lineages. Four of the five Pakistani populations (Gujars, Jadoons, Syeds, Yousafzais) possessed strong maternal genetic affinities with other Pakistani and Central Asian populations, whereas one (Tanolis) did not. Four haplogroups (R1a, R1b, O3, L) among the 11 Y-chromosome lineages observed among these five ethnic groups contributed substantially to their paternal genetic makeup. Gujars, Syeds and Yousafzais showed strong paternal genetic affinities with other Pakistani and Central Asian populations, whereas Jadoons and Tanolis had close affinities with Turkmen populations from Central Asia and ethnic groups from northeast India. We evaluate these genetic data in the context of historical and archeological evidence to test different hypotheses concerning their origins and biological relationships.

Relationship between physical activity level and BMI among Pakistani labourers in Saudi Arabia: A cross-sectional study.

OBJECTIVE: To study the level of physical activity of Pakistani labourers in Saudi Arabia, and to find its relationship with body mass index. Methods: The observational study was conducted inside the Pakistan Embassy in Riyadh, Saudi Arabia, from October 2017 to March 2018, and comprised Pakistani males aged 22-60 years doing unskilled and semi-skilled jobs. Body mass index was calculated, and the level of physical activity was assessed using the short form of International Physical Activity Questionnaire. Data was analysed using SPSS 20. RESULTS: There were 130 subjects with mean age of 33.53±7.9 years. There were 109(83.8%) subjects aged <40 years, and 21(16.2%) were aged >40 years. Mean body mass index of the sample was 26.13±5.29kg/m². Overall, 71(54.6%) participants were insufficiently active having energy expenditure <600 metabolic equivalent of task in minutes per week. No statistically significant result was found when total energy expenditure was considered (p>0.05), but significant result was found for energy expenditure due to 'walk alone' (p<0.05). Significant correlation was found between profession and overall energy expenditure and job-related energy expenditure. Significant but weak positive correlation was found between body mass index and walk-related energy expenditure (r=0.279), (p<0.001). CONCLUSIONS: Mean body mass index of the sample was high compared to South Asian cut-off values, and the level of physical activity was very low, but the findings failed to show an inverse relationship between physical activity level and body mass index.

Antibiotic susceptibility patterns of bacterial isolates of patients with upper respiratory tract infections

Abstract To evaluate the antibiotic susceptibility patterns in URTIs reporting to tertiary hospitals of Lahore. A cross-sectional study employing 259 culture sensitivity reports obtained from tertiary care hospitals of Lahore. Using SPSS, descriptive statistics were used to estimate frequencies and percentages. In URTIs, S. aureus (5%) was the frequent gram-positive isolate followed by MRSA (1.5%) and MSSA (1.5%), while P. aeruginosa (15.8%) was the prevalent gram-negative isolate followed by Klebsiella (13.1%) and E. coli (6.9%). Against P. aeruginosa, ceftazidime (7.7%), cefuroxime/ceftriaxone (4.6%), amoxicillin (4.3%) and ciprofloxacin (4.2%), were tested resistant, while imipenem (11.2%), ciprofloxacin (9.2%), amikacin (9.2%), meropenem/ levofloxacin/gentamicin (8.1%) and piptaz (6.9%) were found sensitive. Against Klebsiella, carbepenems (7.3%), amikacin (6.5%), ciprofloxacin (5.4%) and gentamicin (5%) were tested sensitive, whereas, ceftazidime (8.5%), ceftriaxone (5.8%), cefaclor (5.5%), ampicillin (4.6%), co-amoxiclave (4.2%) and ciftazidime/ciprofloxacin (3.8%) were found resistant. Overall, imipenem (35%), meropenem (30.8%) and amikacin (31.9%) were the three most sensitive antibiotics, while ceftazidime (25.4%), ceftriaxone (19.2%) and ampicillin (18.5%) were the three most resistant antibiotics. Data suggested that P.aeruginosa and Klebsiella, were the most frequent bacterial isolates in URTIs of Lahore. These isolates were resistant to ampicillin, cefuroxime and ceftazidime, but were sensitive to carbapenem and aminoglycosides

Spermatozoa retrieval in azoospermia and expression profile of JMJD1A, TNP2, and PRM2 in a subset of the Karachi population.

BACKGROUND: The difficulties encountered in surgical spermatozoa retrieval for intracytoplasmic sperm injection procedure in azoospermic men have stressed the dire need for a robust biomarker for the prediction of spermatozoa retrieval. Data have highlighted the role of JMJD1A (Jumonji domain-containing 1A), a histone H3K9 demethylase, and other nuclear proteins, protamines (PRM) and transition nuclear proteins (TNP), as biomarkers in male infertility. OBJECTIVE: To access successful spermatozoa retrieval at the time of intracytoplasmic sperm injection by evaluating the mRNA expression profile of JMJD1A, TNP, and PRM in testicular tissue. MATERIALS/METHODS: About 100 azoospermic patients, who visited the Australian Concept Infertility Medical Center, Karachi for spermatozoa retrieval by testicular sperm extraction or microsurgical testicular sperm extraction participated in the study. mRNA expression of the JMJD1A, TNP1, TNP2, PRM1, and PRM2 genes was determined. Patients were categorized into successful spermatozoa retrieval (n = 42) group and unsuccessful spermatozoa retrieval (n = 58) group. RESULTS: Azoospermic men in successful spermatozoa retrieval had significantly increased expression of JMJD1A, TNP2, and PRM2. The hormonal parameters - follicle-stimulating hormone, luteinizing hormone, and thyroid-stimulating hormone were significantly higher in unsuccessful spermatozoa retrieval. Multivariate analysis showed a significant association between JMJD1A, TNP2, PRM2, and successful spermatozoa retrieval. The area under the receiver operating characteristics curve showed a significant discriminatory ability to predict the spermatozoa retrieval outcome in azoospermic patients for mRNA expression of JMJD1A, TNP2, and PRM2 was 71, 72, and 73%, respectively. The area under the curve for follicle-stimulating hormone, luteinizing hormone, and thyroid-stimulating hormone was 0.67, 0.81, and 0.65, respectively. DISCUSSION: Our study demonstrates that the mRNA expression profile of JMJD1A, TNP2, and PRM2 along with hormonal parameters, is a useful marker to assess the probability of spermatozoa retrieval before intracytoplasmic sperm injection intervention. CONCLUSION: The probability of spermatozoa retrieval in azoospermic patients is increased when the mRNA expression profile of JMJD1A, TNP2, and PRM2 in testicular tissue is increased.

Understanding the impact of systemic lupus erythematosus on work amongst South Asian people in the UK: An explorative qualitative study.

SLE has a range of fluctuating symptoms affecting individuals and their ability to work. Although South Asian (SA) patients are at increased risk of developing SLE there is limited knowledge of the impact on employment for these patients in the UK. Understanding ethnicity and disease-specific issues are important to ensure patients are adequately supported at work. Semi-structured interviews were conducted with patients of SA origin to explore how SLE impacted on their employment. Thematic analysis was used to analyse the data which are reported following COREQ guidelines. Ten patients (8 female; 2 male) were recruited from three rheumatology centres in the UK and interviewed between November 2019 and March 2020. Patients were from Indian (n = 8) or Pakistani (n = 2) origin and worked in a range of employment sectors. Four themes emerged from the data: (1) Disease related factors; (2) Employment related factors; (3) Cultural and interpersonal factors impacting on work ability; (4) Recommendations for improvement. Patients' ability to work was affected by variable work-related support from their hospital clinicians, low awareness of SLE and variable support from their employers, and cultural barriers in their communities that could affect levels of family support received. These findings highlight the need for additional support for SA patients with SLE in the workplace.

Forensic features and genetic legacy of the Baloch population of Pakistan and the Hazara population across Durand line revealed by Y-chromosomal STRs.

The Hazara population across Durand line has experienced extensive interaction with Central Asian and East Asian populations. Hazara individuals have typical Mongolian facial appearances and they called themselves descendants of Genghis Khan's army. The people who speak the Balochi language are called Baloch. Previously, a worldwide analysis of Y-chromosomal haplotype diversity for rapidly mutating (RM) Y-STRs and with PowerPlex Y23 System (Promega Corporation Madison, USA) kit was created with collaborative efforts, but Baloch and Hazara population from Pakistan and Hazara population from Afghanistan were missing. In the current study, Yfiler Plus PCR Amplification Kit loci were examined in 260 unrelated Hazara individuals from Afghanistan, 153 Hazara individuals, and 111 Balochi individuals from Baluchistan Pakistan. For the Hazara population from Afghanistan and Pakistan overall, 380 different haplotypes were observed on these 27 Y-STR loci, gene diversities ranged from 0.51288 (DYS389I) to 0.9257 (DYF387S1), and haplotype diversity was 0.9992. For the Baloch population, every individual was unique at 27 Y-STR loci; gene diversity ranged from 0.5718 (DYS460) to 0.9371(DYF387S1). Twelve haplotypes were shared between 178 individuals, while only two haplotypes among these twelve were shared between 87 individuals in Hazara populations. Rst and Fst pairwise genetic distance analyses, multidimensional scaling plot, neighbor-joining tree, linear discriminatory analysis, and median-joining network were performed, which shed light on the history of Hazara and Baloch populations. The results of our study showed that the Yfiler Plus PCR Amplification Kit marker set provided substantially stronger discriminatory power in the Baloch population of Pakistan and the Hazara population across the Durand line.

Chloracne: a case series on cutaneous expression of CYP1A1 as diagnostic biomarker.

Chloracne, also known as metabolizing acquired dioxin-induced skin hamartomas (MADISH), is a rare disfiguring disease related to dioxin exposure. There is a paucity of literature on the clinical manifestations and pathogenesis of chloracne/MADISH. The aim of this study was to assess the clinical features of this very unusual acneiform eruption and to explore the pathogenesis of the disease. This was a retrospective, observational report study was conducted on five patients belonging to the same nuclear family (father, mother and three children) and a relative (father's brother) living in the same house. Histopathological, immunohistochemical, laboratory and toxicological analyses were performed for all patients. The results suggest that CYP1A1 in human skin is a diagnostic biomarker in chloracne, and was positive for all the patients in our sample. Tetrachlorodibenzo-p-dioxin is the most investigated dioxin responsible for chloracne; however, several other agonists, whether dioxin-like or not, can activate the aryl hydrocarbon receptor. To our knowledge, this Italian case series is the first study to suggest polychlorinated biphenyls as a possible cause of an overstimulation of aryl hydrocarbons causing the consequent acneiform eruption.

OCCURRENCE OF UNUSUAL HAEMOGLOBINOPATHIES IN BALOCHISTAN: HB SD AND HB SE - PRESENTATION WITH OSTEOMYELITIS.

OBJECTIVE: To describe two cases of unusual variants of sickle cell disease. CASE DESCRIPTION: We present two cases of sickle cell disease variants (haemoglobinopathies), from unrelated families, in the state of Balochistan (Pakistan). One was diagnosed with sickle cell disease in the haemoglobin electrophoresis, whereas the other was diagnosed with sickle cell SE disease. Both were diagnosed based on the presentation of osteomyelitis. COMMENTS: Haemoglobin SD disease (Hb SD) and haemoglobin SE disease (Hb SE) are rare haemoglobinopathies in the world. The lack of available literature suggests that both are variants of sickle cell disease (SCD), with heterogeneous nature. The prevalence of sickle cell disease with compound heterozygotes was found at a variable frequency in the population of the Asian Southeast. The frequency of osteomyelitis in SCD is 12 to 18%, but its occurrence among variant haemoglobinopathies is little reported. Both reported cases presented with osteomyelitis as a characteristic of the disease presentation.

Influence of culture, religion and experience on the decision of Pakistani women in Lothian, Scotland to use postnatal contraception: a qualitative study.

INTRODUCTION: Evidence suggests that Pakistani women may experience difficulty accessing postnatal contraceptive (PNC) services. The study aimed to identify experience and decision-making around PNC provision for Pakistani women in Lothian, and to explore the views and experience of maternity staff who provide PNC counselling. METHODS: Qualitative research including focus groups and 1:1 semi-structured interviews with women and staff. Participants were first- and second-generation Pakistani women with a child/children aged up to 5 years, or pregnant; community and hospital midwives, obstetric doctors who counsel or provide PNC. Data were coded and categorised using QSR NVIVO10. Inductive thematic analysis was carried out. RESULTS: Women were receptive to discussion of contraception, including antenatally, and welcomed translated information. Some said the decision on PNC was theirs or made jointly with their husband; however, they acknowledged that in some marriages the husband will take the decision. Women stated they may face family expectation to have a baby early in marriage. Language was identified as a challenge by maternity staff, who utilised translation services to ensure women received the information they needed on contraception. CONCLUSIONS: Pakistani women value antenatal discussion about PNC. Maternity staff have an important role in providing quality information on contraception and should be supported with translated resources in a range of formats. Most importantly, staff should adopt a tailored approach to identify the individual woman's needs and preferences.

Diagnostic and perinatal outcomes in consanguineous couples with a structural fetal anomaly: A cohort study.

INTRODUCTION: Consanguineous unions occur when a couple are related outside marriage and is associated with adverse genetic and perinatal outcomes for affected offspring. The objectives of this study were to evaluate: (i) background characteristics, (ii) uptake of prenatal and postnatal investigation and (iii) diagnostic outcomes of UK consanguineous couples presenting with a fetal structural anomaly. MATERIAL AND METHODS: This was a retrospective and partly prospective cohort study comparing consanguineous (n = 62) and non-consanguineous (n = 218) pregnancies with current or previous fetal structural anomalies reviewed in a UK prenatal genetic clinic from 2008 to 2019. Outcomes were compared using odds ratios (OR). RESULTS: Most consanguineous couples were of Pakistani ethnicity (odds ratio [OR] 29, 95% confidence interval [95% CI] 13-62) and required use of an interpreter [OR 9, 95% CI 4-20). In the consanguineous group, the uptake of prenatal invasive testing was lower (OR 0.4, 95% CI 0.2-0.7) and the number declining follow up was greater (OR 10, 95% CI 3-34) than in the non-consanguineous group. This likely explained the lower proportion of consanguineous couples where a final definitive unifying diagnosis to explain the fetal structural anomalies was reached (OR 0.3, 95% CI 0.2-0.6). When a diagnosis was obtained in this group, it was always postnatal and most often using genomic sequencing technologies (OR 6, 95% CI 1-27). The risk of perinatal death was greater (OR 3, 95% CI 1-6) in the consanguineous group, as was the risk of fetal structural anomaly recurrence in a subsequent pregnancy (OR 4, 95% CI 1-13). There was no difference in the uptake of perinatal autopsy or termination of pregnancy between groups. CONCLUSIONS: Consanguineous couples are a vulnerable group in the prenatal setting. Although adverse perinatal outcomes in this group are more common secondary to congenital anomalies, despite the evolution of genomic sequencing technologies, due to a lower uptake of prenatal testing it is less likely that a unifying diagnosis is obtained and recurrence can occur. There is a need for proactive genetic counseling and education from the multidisciplinary team, addressing language barriers as well as religious and cultural beliefs in an attempt to optimize reproductive options.

Forensic application and genetic diversity of 21 autosomal STR loci in five major population groups of Pakistan.

OBJECTIVES: Investigation of genetic diversity of the 21 autosomal STR loci included in the GlobalFilerTM PCR Amplification Kit in 529 Pakistani individuals belonging to the Punjabi, Pashtun, Sindhi, Saraiki, and Baloch ethnic groups. Population genetic parameters and forensic informative metrics for each group were evaluated. RESULTS: SE33 showed the greatest power of discrimination in all populations studied. The combined match probability ranged from 8.06E-27 (Saraiki) to 1.05E-26 (Baloch), and the combined power of exclusion ranged from 0.99999999902 (Punjabi) to 0.99999999964 (Pashtun). D12S391 in the Baloch population and D2S441 in the Saraiki population showed deviation from Hardy-Weinberg equilibrium. CONCLUSION: Significant genetic distances were observed between the Punjabi, Pashtun, and Baloch populations. This study supports the utilization of the GlobalFilerTM STR kit for forensic applications in Pakistan.