Population Of Childbearing Age Research Articles

Expanded carrier screening for 216 diseases in a cohort of 3 097 healthy Chinese individuals of childbearing age

Objective: To determine the carrier frequency and hot-spot variants of a custom-designed expanded carrier screening (ECS) panel with 216 diseases (216-ECS panel) within a Chinese population of childbearing age. Methods: Whole-exome sequencing data from a cohort of 3 097 unrelated healthy individuals (including 1 424 couples) from Peking Union Medical College Hospital between January 2013 and December 2023 were analyzed. Totally 220 genes which inherited in a recessive manner of 216-ECS panel were included in the analysis. The analysis included variant carrier rate, gene carrier rate, cumulative carrier rate, at-risk couple rates, and variant spectrum. Results: (1) Pathogenic variants were identified in 1 472 (47.53%, 1 472/3 097) individuals, with an average of 0.65 pathogenic variants per individual. The rate of at-risk couples was 3.93% (56/1 424). (2) A total of 180 genes were identified, with 16 genes exhibiting a gene carrier rate of ≥1% and 33 genes having a rate of ≥0.5%, most of which were associated with inherited metabolic diseases. Noteworthy genes with higher gene carrier rates and high-frequency variants included GJB2: c.235del, PAH: c.728G>A, ATP7B: c.2333G>T, SLC26A4: c.919-2A>G, GALC: c.1901T>C, POLG: c.2890C>T, SLC22A5: c.1472C>G, USH2A: c.2802T>G, SLC25A13: c.852_855del, GAA: c.761C>T and c.752C>T. Conclusion: This study offers a focused analysis of carrier frequencies and hot-spot variants of 216 diseases of the ECS panel constructed by our laboratory among the Chinese population, laying a foundation for the development of ECS programs tailored to the Chinese population.

Impact of COVID-19 Vaccination on Female Fertility.

Despite evidence in previous literature regarding vaccine safety, more data were needed as concerns about COVID-19 vaccines were raised, particularly regarding their effects on female fertility, exacerbated by the widespread dissemination of information without scientific evidence. This study aims to answer the question: does COVID-19 vaccination have any impact on female fertility at a population level. In this ecological study, vaccination rates against COVID-19 and birth rates in 100 different countries were correlated. In addition, the correlation between these two rates of interest and the Gini index were also analyzed. Data were retrieved from the World Population Prospects document produced by the Population Division of the United Nations Department of Economic and Social Affairs, from the World Health Organization (WHO) website, and from the World Bank website. Statistical analyses were conducted using the ANOVA test, and Pearson's correlation using the JASP software. For all analyses, results were considered significant if P < 0.05. In evaluating the trend of the birth rate in the countries included in the study, a persistent reduction of approximately 1.66% per year was observed between 2010 and 2022. From 2019 to 2022, the decline was close to 5%, resulting in an annual average reduction of 1.68%, which is similar to previous years. Among the selected countries, until December 2021, the average number of vaccine doses administered was 137 per 100 inhabitants. There was no observed correlation between the number of vaccine doses administered in different countries and the variation in the birth rate per thousand inhabitants between 2019 and 2022 (Pearson's r = 0.075; P = 0.455). A correlation was found between the Gini index and the birth rate, considering the base year of 2022, with a Pearson's r value of 0.376 (P < 0.01). This correlation remained consistent for all other years. A negative correlation was found between vaccine doses and the Gini index, with a Pearson's r value of -0.219 (P = 0.040). The findings of this article, as well as previous scientific evidence, do not identify any correlation between COVID-19 vaccines and female fertility issues. The associations analyzed in this study indicate the safety of vaccines for reproductive health and contribute to reducing vaccine hesitancy among the population of childbearing age.

Screening for thalassemia carriers among the Han population of childbearing age in Southwestern of China.

Thalassemia is a severe hereditary blood disorder that poses a significant threat to human health and leads to mortality and disability. It is one of the most prevalent monogenic diseases worldwide. The aim of this study was to analyze the molecular epidemiological data of individuals of childbearing age from the Han ethnic group with thalassemia in Southwest China and to explore the application of next-generation sequencing (NGS) technology in screening thalassemia carriers. The participants were Han males and females of childbearing age who sought medical advice at the West China Second University Hospital, Sichuan University from June 2022 to June 2023. We detected α- and β-thalassemia mutations using full-length capture of the thalassemia genes and NGS technology. In a cohort of 1,093 participants, 130 thalassemia carriers were identified, with an overall detection rate of 11.89% (130/1,093). Among these, 0.91% (10/1,093) had mutations that could not be detected using traditional PCR techniques. The proportions of carriers with α-, β-, and α-complexed β-thalassemia gene mutations were 7.68% (84/1,093), 3.93% (43/1,093), and 0.27% (3/1,093), respectively. We identified a novel HBA2 c.166del variant that has not been previously reported. Using NGS technology, we found that the mutation-carrying rate of thalassemia genes was 11.89% in the Han population of childbearing age in Southwest China. Compared with the results of traditional PCR techniques, NGS detected an additional 0.91% (10/1,093) rare genetic variants. NGS technology should be utilized as the primary screening method for thalassemia carriers among Han nationality people of childbearing age in Southwest China.

Clinical application value of pre-pregnancy carrier screening in Chinese Han childbearing population.

To explore the clinical application value of pre-conception expanded carrier screening (PECS) in the Chinese Han ethnicity population of childbearing age. The results of genetic testing of infertile parents who underwent PECS in the Reproductive Medicine Center of the Second Affiliated Hospital of Zhengzhou University, China, from September 2019 to December 2021, were retrospectively analyzed. The carrier rate of single gene disease, the detection rate of high-risk parents, and the clinical outcome of high-risk parents were statistically analyzed. A total of 1372 Chinese Han ethnicity patients underwent PECS, among which 458 patients underwent the extended 108-gene test, their overall carrier rate was 31.7%, and the detection rate of high-risk parents was 0.3%. The highest carrier rates were SLC22A (2.4%), ATP7B (2.4%), MMACHC (2.2%), PAH (1.8%), GALC (1.8%), MLC1 (1.3%), UNC13D (1.1%), CAPN3 (1.1%), and PKHD1 (1.1%). There were 488 women with fragile X syndrome-FMR1 gene detection, and 6 patients (1.2%) had FMR1 gene mutation. A total of 426 patients were screened for spinal muscular atrophy-SMN1, and the carrier rate was 3.5%, and the detection rate of parents' co-carrier was 0.5%. Monogenic recessive hereditary diseases had a high carrier rate in the population. Pre-pregnancy screening could provide good prenatal and postnatal care guidance for patients and preimplantation genetic testing for monogenic/single gene disorders (PGT-M) and prenatal diagnosis could provide more precise reproductive choices for high-risk parents.

Effects on reduction of morbidity and mortality in ACHD population of childbearing age as a result of ESC Guidelines

Abstract Introduction Cardiovascular disease remains the leading cause of maternal death during pregnancy and peripartum period. ACHD is a rising cause for maternal cardiovascular complications. Several studies demonstrated the beneficial role of systematic maternal cardiovascular risk assessment culminating in the European Society of Cardiology guidelines in 2018 endorsing the use of the modified World Health Organization (mWHO) classification to stratify maternal risk and further guide surveillance and management of women with underlying cardiac conditions. Purpose In this study we aim to reduce maternal cardiovascular morbidity risks by actively implementing recommendations from the 2018 ESC guidelines for the management of cardiovascular diseases in women with ACHD in childbearing age in Grampian region, Scotland. Methods We identified women of childbearing age (n = 204) in the ACHD population of NHS Grampian (n = 594). We initially calculated baseline percentage of ACHD women who had pre-pregnancy counselling, documented mWHO risk assessment and, if applicable, contraception advice and pregnancy rate. This population has been prospectively followed up during the period from 2020 to 2022 and ESC guidelines were implemented. By the end of the follow up period we assessed the changes in the pregnancy rate in ACHD women. Results Overall, the population of ACHD women of childbearing age in Grampian region has significantly grown (expanded) during the study period (from n = 204 to n = 230) and the vast majority (90.5%) of these patients are diagnosed with mWHO class I (38.3%, ESC mild ACHD) or mWHO class II / class II-III (52.2%, ESC moderate ACHD). There has been an increase in the percentage of women reviewed in Transition Clinic compared to baseline (44.7% versus 27.8%, respectively), a clearer documentation of mWHO pregnancy risk (31.6% versus 7.3%) and an increase in contraceptives use, especially in moderate and severe ACHD patients compared to baseline (65.2% versus 57.1%, respectively). This resulted in an overall reduction of the numbers of pregnancy in ACHD women compared to baseline (7.9% versus 40.1%, respectively), especially in women with ESC moderate and severe ACHD (Table 1) with consequent reduction in hospital admissions and morbidity. Conclusions Implementing risk stratification tools (mWHO pregnancy risk stratification) and systematic pre-pregnancy counselling with contraceptive advice (all key recommendations from the ESC guidelines) reduce the rate of high-risk pregnancy in ACHD women. This translates to an improvement in survival rates and lower morbidity in ACHD women. Further follow up is required to ensure the consistency of this finding.

Using the COM-B framework to elucidate facilitators and barriers to COVID-19 vaccine uptake in pregnant women: a qualitative study

Since April 2021, COVID-19 vaccines have been recommended for pregnant women. Despite this, COVID-19 vaccine uptake in this group is low compared to the non-pregnant population of childbearing age. Our aim was to understand barriers and facilitators to COVID-19 vaccine uptake among pregnant women in Northern Ireland using the COM-B framework, and so to make recommendations for public health interventions. The COM-B proposes that human behaviour is influenced by the extent to which a person has the capability, opportunity, and motivation to enact that behaviour. Understanding the factors underpinning behaviour through this lens helps discern what needs to change to change behaviour, therefore supporting the development of targeted interventions.This study consisted of eight semi-structured interviews with new/expectant mothers who did not receive a COVID-19 vaccine dose while pregnant since April 2021, and a focus group with five participants who received at least one COVID-19 vaccine dose while pregnant. Interview and focus group data were analysed using semi-deductive reflexive thematic analysis framed by a subtle realist approach. The COM-B was used to categorise codes and subthemes were developed within each COM-B construct.Within Psychological Capability, subthemes captured the need for consistent and reliable COVID-19 vaccine information and access to balanced and jargon-free, risk–benefit information that is tailored to the pregnant individual. The behaviour/opinions of family, friends, and local healthcare providers had a powerful influence on COVID-19 vaccine decisions (Social Opportunity). Integrating the COVID-19 vaccine as part of routine antenatal pathways was believed to support access and sense of familiarity (Physical Opportunity). Participants valued health autonomy, however experienced internal conflict driven by concerns about long-term side effects for their baby (Reflective Motivation). Feelings of fear, lack of empathy from healthcare providers, and anticipated guilt commonly underpinned indecision as to whether to get the vaccine (Automatic Motivation).Our study highlighted that the choice to accept a vaccine during pregnancy generates internal conflict and worry. Several participants cited their concern was primarily around the safety for their baby. Healthcare professionals (HCPs) play a significant part when it comes to decision making about COVID-19 vaccines among pregnant women. HCPs and pregnant women should be involved in the development of interventions to improve the delivery and communication of information.

Fertility intentions to have a second or third child among the childbearing-age population in Central China under China's three-child policy: A cross-sectional study.

On May 31, 2021, the Chinese authorities announced that couples can have up to three children, aiming to stimulate a rise in fertility levels. However, there is limited research on second and third birth intentions of the childbearing-age population under China's three-child policy, and the existing results are inconsistent. A cross-sectional survey was performed in Central China from June to August 2022. A total of 13 479 respondents aged 20-49 were enrolled in the study through a multi-stage sampling method. Data on the intentions to have a second or third child were collected using anonymized questionnaires. Descriptive statistics were performed to assess fertility intentions. Multivariate logistic regression analyses were used to assess the associations between fertility intentions and the related factors. Among families with a single child, 29.7% (1444 / 4859) of the respondents intended to have a second child, while among two-child families, 10.6% (750 / 7056) respondents intended to have a third child. Overall, participants indicated that the ideal number of children was 1.85 ± 0.52. The age-specific fertility intentions of the one-child families were always higher than those of two-child families; however, based on couples' age groups, the number of ideal children reported by two-child families was always higher than that of one-child families. Fertility intentions were influenced by the respondents' gender, age, residence, marital status, educational level, average working time, childcare support, marital satisfaction, accessibility of educational resources, health condition of both spouses, loan situation, size of living house and the gender of the first child or second child. The general prevalence of the second and third birth intention of the childbearing-age population in Central China is not high. To increase the birth rate, it is necessary to create a favourable fertility context and offer supportive measures.

Clinical application value of expanded carrier screening in the population of childbearing age

ObjectiveThe objective of this study was to explore the clinical utility of the implementation of expanded carrier screening (ECS) in Chinese population of childbearing age.Materials and methodsBased on capillary electrophoresis, a first-generation sequencing technology, a prospective screening study of carriers of 15 single-gene diseases was carried out in 327 subjects in Anhui Province, including 84 couples and 159 women of childbearing age, the disease carrier rate, types of screened pathogenic genes, and incidence of both partners carrying the same pathogenic genes were summarized and analyzed.ResultsIn 320 people with normal phenotypes who underwent ECS for 15 genetic diseases and 7 spouses who underwent targeted gene sequencing, 65 carriers of at least one disease were detected, with a total carrier rate of 20.31% (65/320). Among the 65 carriers, 81.54% (53/65) carried one genetic variant, 16.92% (11/65) carried two genetic variants, and 1.54% (1/65) carried three genetic variants. In this study, the three diseases with the highest carrier rates were hereditary deafness (8.13%, 26/320), Wilson's disease (4.06%, 13/320), and phenylketonuria (3.13%, 10/320). One high-risk couple (1.19%, 1/84) was detected.ConclusionsIt has certain clinical application value to implement ECS in the population of childbearing age in China.

Serum Vitamin E Reference Intervals in a Black Congolese Population of Kinshasa

Context: Vitamin E is a powerful antioxidant and plays an important role in human reproduction. However, micronutrient deficiency is a major public health problem, particularly in developing countries. This study aimed to establish reference intervals (RIs) for vitamin E in black Congolese people of childbearing age using an ELISA method to provide a reference for clinically assessing vitamin E status. Methods: A total of 127 healthy people between the ages of 20 and 42 who underwent check-ups were randomly selected for the study. ELISA method measured the level of vitamin E. The effect of gender on vitamin E level was assessed, and RI was established using a parametric approach. Results: Women showed significantly higher levels of vitamin E than men (p = 0.01). The RI of vitamin E in people of childbearing age was 3.71 to 13.72, 4.52 to 14.64, and 4.17 to 13.52 mg/L, respectively, for the whole population, women and men. Conclusion: Using an ELISA method, this study established RI for vitamin E in the black Congolese population of childbearing age. We also found that women had significantly higher vitamin E levels than men. The results could provide a scientific basis for interpreting vitamin status in people of childbearing age in our setting.

DETEKSI DINI KANKER SERVIKS DAN SAFARI KELUARGA BERENCANA DI EKS KAWEDANAN BOJA

Family Planning is one of the efforts to reduce maternal mortality, so that Indonesia is committed to participating in signing of the global development of the Millennium Development Goals (MDG's) but the evaluation of the MDG's achievements in Indonesia shows that the target achievement has not been satisfactory so that it is continued with the Sustainable development Goals / SDG's program. In 2018 the population of childbearing age in Kendal district, there were 273,848 women out of 503,710 people, while Fertile Age Couple (FAC) was 188,118, who became new family planning (FP) acceptors 124,869 (66.38%). This is still far from the national achievement target, namely the coverage of FAC to become family planning acceptors of 87%. Another problem that arises in FAC is the high incidence of cervical cancer, this condition is caused because the patient comes at an advanced stage. Family planning safaris and early detection of cervical cancer are important things that must be done. This service method uses field studies, Focus Group Discussion (FGDs), counseling and papsmer examination. The target of community service is FAC in Ex Kawedanan Boja. Health education about family planning and early detection of cervical cancer can change behavior. The number of acceptors 60 people with IUD contraception 16 (26%), Implant 26 (43.3%) and Failed 3 (8.3%), the failure to install this contraceptive device was due to inflammation of the cervix. 3 people (17.65%) were positive while negative 14 people (82.35%).Counseling can improve understanding and change the behavior of FAC regarding early detection of cervical cancer and the installation of free implants and IUDs on acceptors through family planning safari.

How does the regulation of abortion provision for pregnancies resulting from rape affect its supply in the municipalities?

The provision of abortion in pregnancies resulting from rape in Brazil is limited, restricted to a few facilities and concentrated in large urban centers. We aimed to estimate the potential for expansion of this service considering the installed capacity in the country's municipalities. From the data of June 2021 in the Cadastro Nacional de Estabelecimentos de Saúde (Brazilian National Registry of Health Facilities, CNES), three different scenarios of abortion provision provided by law in pregnancies resulting from rape were elaborated, and the percentage of female population of childbearing age living in the municipalities of each scenario was calculated by region. The first scenario included the municipalities with installed provision; the second, those with potential for provision considering the current regulations; and the third, those with potential for provision considering only the recommendations of the World Health Organization and the Penal Code of Brazil. The scenarios were composed of 55, 662 and 3,741 municipalities, respectively, and were home to 26.7%, 62.1%, and 94.3% of the country's females between the ages of 10 and 49. In all regions, there was installed capacity to expand provision, both in light of current regulations and international recommendations.

Como a normatização sobre o serviço de aborto em gravidez decorrente de estupro afeta sua oferta nos municípios?

Abstract The provision of abortion in pregnancies resulting from rape in Brazil is limited, restricted to a few facilities and concentrated in large urban centers. We aimed to estimate the potential for expansion of this service considering the installed capacity in the country’s municipalities. From the data of June 2021 in the Cadastro Nacional de Estabelecimentos de Saúde (Brazilian National Registry of Health Facilities, CNES), three different scenarios of abortion provision provided by law in pregnancies resulting from rape were elaborated, and the percentage of female population of childbearing age living in the municipalities of each scenario was calculated by region. The first scenario included the municipalities with installed provision; the second, those with potential for provision considering the current regulations; and the third, those with potential for provision considering only the recommendations of the World Health Organization and the Penal Code of Brazil. The scenarios were composed of 55, 662 and 3,741 municipalities, respectively, and were home to 26.7%, 62.1%, and 94.3% of the country’s females between the ages of 10 and 49. In all regions, there was installed capacity to expand provision, both in light of current regulations and international recommendations.

Prevalence and Genetic Analysis of Thalassemia and Hemoglobinopathy in Different Ethnic Groups and Regions in Hainan Island, Southeast China.

Background: There are limited studies on the molecular profile of thalassemia in Hainan, the free trade island in China. Our aim was to reveal the prevalence and molecular mutation spectrum of thalassemia in different ethnic groups and regions of Hainan through a large sample study for the first time. Methods: A total of 231,596 individuals from 19 cities and counties in Hainan were screened by hematological parameter analysis, and further genetic analysis was performed on individuals with MCV less than 82 fL. Results: Totally, 31,780 (13.72%) subjects were diagnosed as thalassemia carriers. The overall prevalence of α-thalassemia, β-thalassemia, and α+β-thalassemia were 11.04%, 1.48%, and 1.20%, respectively. We further analyzed the molecular profiles of thalassemia in various ethnic groups and mainly compared the difference between Han and Li. The results showed that the frequency of thalassemia in the Li population (47.03%) was much higher than that in Han (9.37%). Except for β-thalassemia (1.31% of Li vs. 1.47% of Han), the frequencies of α-thalassemia (39.59% of Li vs. 7.35% of Han) and α+β-thalassemia (6.13% of Li vs. 0.56% of Han) in the Li were obviously higher than those in Han. The high-frequent genotypes of α-thalassemia in Han were αα/--SEA (25.55%), -α3.7/αα (22.17%), -α4.2/αα (21.59%), αWSα/αα (8.93%), and -α3.7/-α4.2 (4.17%) and those of Li were -α4.2/αα (17.24%), -α3.7/αα (17.16%), -α3.7/-α4.2 (15.09%), αWSα/αα (9.69%), and αWSα/-α3.7 (8.06%), respectively. The αα/--SEA was the highest genotype of α-thalassemia in Han but only accounted for 1.87% in Li. For β-thalassemia, the top three high-frequent genotypes in both Han and Li were βCD41/42(-TTCT)/βN, β-28(A>G)/βN, and βIVS-Ⅱ-654(C>T)/βN, but the frequency of βCD41/42(-TTCT)/βN in Li (90.96%) was much higher than that in Han (56.32%) and the data reported in other provinces of China. Additionally, the prevalence of thalassemia ranged from 8.16% to 34.35% in Hainan, Wuzhishan, Baoting, Qiongzhong, and Baisha have a higher prevalence than other areas. Conclusion: Our study revealed the characteristics of ethnic and regional differences in the prevalence of thalassemia in the childbearing age population of Hainan for the first time, indicating that the prevalence of thalassemia among Li nationality is the highest in China. Those findings will be useful for genetic counseling and the prevention of thalassemia.

Pre-conception carrier screening for 21 inherited metabolic diseases in a Chinese population

To determine the carrier rate for 21 inherited metabolic diseases among a Chinese population of childbearing age. A total of 897 unrelated healthy individuals (including 143 couples) were recruited, and DNA was extracted from their peripheral blood samples. Whole exome sequencing (WES) was carried out to screen potential variants among 54 genes associated with 21 inherited metabolic diseases. Pathogenic and likely pathogenic variants and unreported loss-of-function variants were analyzed. One hundred fourty types of pathogenic/likely pathogenic variants (with an overall number of 183) and unreported loss-of-function variants were detected, which yield a frequency of 0.20 per capita. A husband and wife were both found to carry pathogenic variants of the SLC25A13 gene and have given birth to a healthy baby with the aid of preimplantation genetic diagnosis. The detected variants have involved 40 genes, with the most common ones including ATP7B, SLC25A13, PAH, CBS and MMACHC. Based on the Hardy-Weinberg equilibrium, the incidence of the 21 inherited metabolic diseases in the population was approximately 1/1100, with the five diseases with higher incidence including citrullinemia, methylmalonic acidemia, Wilson disease, glycogen storage disease, and phenylketonuria. This study has preliminarily determined the carrier rate and incidence of 21 inherited metabolic diseases among a Chinese population of childbearing age, which has provided valuable information for the design of neonatal screening program for inherited metabolic diseases. Pre-conception carrier screening can provide an important measure for the prevention of transmission of Mendelian disorders in the population.

Prevalence and genetic analysis of thalassemia in childbearing age population of Hainan, The Free Trade Island in Southern China.

BackgroundHainan has one of the high incidences of thalassemia in China, but the epidemiological data in the whole province has not been reported yet. The objective of our study was to reveal the true prevalence and molecular mutation spectrum of thalassemia in the population of Hainan who are of childbearing age.MethodsWe screened 166,936 individuals from 19 cities and counties in Hainan by hematological parameters analysis, and further conducted genetic analysis for individuals whose MCV was less than 82fL.ResultsIn total, 21,619 (12.95%) subjects were diagnosed as thalassemia carriers or patients. The overall prevalence of α‐thalassemia, β‐thalassemia, and α+β‐thalassemia were 10.39%, 1.38%, and 1.18%, respectively. Eleven α‐thalassemia mutations and sixteen β‐thalassemia mutations were identified. The high‐frequent genotypes of α‐thalassemia were ‐α3.7/αα (19.70%), ‐α4.2/αα (19.39%), αα/‐‐SEA (15.60%), αWSα/αα (9.24%), and ‐α3.7/‐α4.2 (8.90%), and those of β‐thalassemia were βCD41/42(−TTCT)/βN (58.92%), β−28(A>G)/βN (16.05%), βIVS−Ⅱ−654(C>T)/βN (8.42%), βCD71/72(+A)/βN (6.03%), βCD17(A>T)/βN (5.47%), and βCD26 (GAG>AAG)/βN (2.69%). In addition, the frequencies and hematological profiles of many rare mutations of α‐ [Fusion, HKαα, αααanti4.2, IVS‐II‐55 (T>G), IVS‐II‐119 (−G,+CTCGGCCC)] and β‐globin genes [−50 (G>A), IVS‐Ⅱ‐81 (C>T)] in Hainan were reported for the first time.ConclusionOur study revealed the high prevalence and extensive molecular spectrum of thalassemia in childbearing age population of Hainan, suggesting thalassemia in Hainan ranks second in prevalence among all regions in China. The findings will be useful for genetic counseling and prevention of thalassemia.

The value of combined detection of HbA2 and HbF for the screening of thalassemia among individuals of childbearing ages

To assess the application value of combined detection of HbA2 and HbF for the screening of thalassemia among a population of childbearing age in Quanzhou, Fujian, and determine the optimal cut-off values for the region. Capillary hemoglobin electrophoresis and genetic testing for α and β globin gene mutations were simultaneously carried out on 11 428 patients with suspected thalassemia. Statistical methods were used to analyze the distribution of various types of thalassemia and compare the performance of HbA2 and HbF measurement for the screening of various types of thalassemia. The optimal cut-off values for HbA2 and HbF were determined with the ROC curves. 4591 patients with α, β, and αβ compound thalassemia were identified by genetic testing. The most common genotypes for α and β thalassemia included --SEA/αα and β654/βN, β41-42/βN, and β17/βN. The ROC curves were drawn to compare the performance of HbA2 screening for α-, β-, αβ-compound, static α-, mild α-, and intermediate α-thalassemia, and the maximum area under the curves was 0.674, 0.984, 0.936, 0.499, 0.731, 0.956, and the optimal cut-off values for HbA2 were 2.45%, 3.25%, 3.65%, 2.95%, 2.55%, 1.75%, respectively. HbA2 is an efficient indicator for identifying intermediate types of α-, β-, and αβ compound thalassemia. The combination of HbA2 and HbF measurement can effectively detect carriers for β-thalassemia mutations.

Third birth intention of the childbearing-age population in mainland China and sociodemographic differences: a cross-sectional survey

BackgroundGlobal fertility declines have become an inevitable trend, and many countries are adopting policies to drive fertility increases. Fertility intention plays an important role in predicting fertility behavior. The Chinese government has recently issued the ‘three-child’ policy, and there is still little research on the third birth intention of the childbearing-age population. Therefore, the aim of this study is to investigate the prevalence and related reasons of third birth intention in the childbearing-age population in mainland China, and analyze the sociodemographic differences.MethodA cross-sectional survey was conducted in mainland China from June to July 2021. A total of 15,332 childbearing-age participants responded and completed the Fertility Intention Questionnaire online through the Wenjuanxing Platform. Data were explored and analyzed by SPSS (version 22.0) software. Descriptive statistics were used to describe the current situation and reasons of third birth intention. Binary logistic regression analysis was applied to assess the influencing factors in the sociodemographic level.ResultsThe mean age of the participants was 32.9 ± 5.94 years. Only 12.2% of participants reported having third birth intention. The subjective norm of having both son and daughter (22.0%) and busy at work (29.2%) accounted for the largest proportion in the reasons of acceptance and rejection, respectively. Age has negative impact on third birth intention (OR = 0.960). Men were 2.209 times more likely to have three children than women (P < 0.001). With the improvement of education and family monthly income, the birth intention shows a downward trend. Compared with Han nationalities, first marriage and city residents, the ethnic minorities, remarriage and rural residents have stronger birth intention (all P < 0.05). And individuals with two existing children are inclined to have the third child (OR = 1.839).ConclusionThe third birth intention in the childbearing-age population in China is still low after the announcement of the three-child policy. It is necessary to create a favorable fertility context for childbearing-age group with high level of third birth intention, like younger, male, minority, remarriage, with lower education and family monthly income, living in rural and two existing children. Furthermore, removing barriers for those unintended is also prominent to ensure the impetus of policy.

Maternal morbidity of adolescent pregnant women

Background: In Mexico, it is estimated that the adolescent population represents 29% of the population of childbearing age. The present study aimed to analyze the obstetric results of 3310 adolescent pregnant women attended in a third level hospital. Material and methods: All records of pregnant women aged 19 years or less up to the date of admission were analyzed at the Mónica Pretelini Saenz Maternal Perinatal Hospital during the period from January 2018 to June 2020, with the following variables: age, pregnancy, resolution obstetric, severe preeclampsia, preeclampsia and gestational hypertension. Results: A total of 13874 pregnant women were attended, of which 3310 (24%) patients were adolescents. The overall frequency of obstetric complications was 21%, including obstetric hemorrhage (13%) and hypertensive disorders of pregnancy (8%). Regarding postpartum obstetric hemorrhage events, classified according to the Advanced Trauma Life Support shock scale, they were categorized as Grade 1 – 338 cases, Grade II – 76 cases, Grade III – 11 cases and Grade IV – 1 case. Hypertensive disorders of pregnancy highlight preeclampsia as the most frequent with a total of 97 cases, followed by 89 cases of severe preeclampsia, 58 cases of gestational hypertension, 14 cases of chronic hypertension and 3 cases of chronic hypertension with preeclampsia. Conclusions: The main complications found in the Mexican pregnant adolescent population were obstetric hemorrhage, which was more frequent in the population aged 15 to 19 years, and hypertensive disorders, which occurred more frequently in the population aged 9 to 14 years.

Trends in Mortality Among Pregnant and Recently Pregnant Women in the US, 2015-2019

This study uses National Center for Health Statistics data to assess mortality rates and their annual percentage changes for pregnancy-related and other causes among pregnant and recently pregnant women from 2015 to 2019, compared with cause-specific mortality rates in the total US female population of childbearing age.

Hodgkin Lymphoma and Female Fertility: A Multicenter Study of Fertility in Women Treated with Doxorubicin, Bleomycin, Vinblastine and Dacarbazine

Background: Hodgkin Lymphoma (HL) is a curable lymphoid malignancy affecting a young population of child-bearing age. Many young women are cured and face long-term complications. Among them, infertility holds an important place and the preservation of fertility has become a growing issue. First-line chemotherapy with ABVD (Doxorubicin, Bleomycin, Vinblastine, and Dacarbazine) appears to have low gonadotoxicity, but this toxicity has been rarely studied.Objective: To provide a new assessment of female fertility by measuring the number of pregnancies and births after ABVD in young women treated for HL compared to an unexposed population.Patients and Methods: Patients 18 to 40 years of age with HL treated in Angers, Nantes and Poitiers in the trials POF81, MH90 and MH97 conducted from 1981 to 2005 were contacted. The main treatment was ABVD. Two healthy controls were assigned to each patient and matched on age, tobacco consumption and body mass index. Fertility was assessed by the number of pregnancies after HL treatment and the number of births. Data were collected by paper questionnaires.Results: Sixty-seven patients were included. The median age at diagnosis was 24.4 years (15.6-43.1). Forty-six patients received “standard” intensity treatment: 37 patients were treated with ABVD and 9 patients with EBVM (epirubicin, bleomycin, vinblastine and methotrexate). Twenty-one patients received “enhanced” intensity treatment, 8 of them with autologous stem cells transplantation. All but one received radiotherapy. Fifty-four percent of ABVD-treated patients achieved pregnancy and 82.3% of patients who desired children had at least one birth. In the group of patients, 36 (53.7%) started at least one pregnancy after treatment versus 73 controls (54.5%) (p = 0.92). The median time to pregnancy did not differ between groups [4.8 years (3.1-6.6) in the patients vs. 6.8 years (5-8.7) in the controls, p = 0.214]. Similarly, there was no difference in the use of medically assisted procreation [7 (10.4%) patients vs 7 (5.2%) controls, p = 0.125]. The age at onset of menopause was 44.4 years (36-55) in patients vs 51.5 years (36.2-59) in controls (p = 0.006) without impact on the number of pregnancies. Thirty-six patients (53.7%) wanted to have children after HL treatment: 30 (83.3%) had at least one pregnancy and all but one had at least one birth (80.5% %). There were few premature births in patients (4%) and few neonatal complications [1 failure to thrive (2%)].Conclusion: In our study, the number of pregnancies and births in young women treated with ABVD for HL is similar to that of the general population, reflecting the low gonadotoxicity of ABVD. DisclosuresLeleu:Merck: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees; Pierre Fabre: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees; BMS: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees; Janssen: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees; Amgen: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees; Celgene: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees; Sanofi: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees; AbbVie: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees; Takeda: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees; Novartis: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees.