Prevalence of rare chromosomal abnormalities according to epidemiological register of congenital malformations in the Moscow region

2021 ◽  
pp. 59-66
Author(s):  
Е.Е. Заяева ◽  
Е.Н. Андреева ◽  
Н.С. Демикова
Keyword(s):  
Prevalence Rate ◽  
Congenital Malformations ◽  
Chromosomal Abnormalities ◽  
Population Based ◽  
Moscow Region ◽  
Live Births ◽  
Marker Chromosomes ◽  
The World ◽  
International Data

Популяционная частота редких хромосомных аномалий (ХА) до сих пор достоверно не определена. Выполнить эту задачу можно путем регистрации случаев редких ХА среди плодов, живорожденных и мертворожденных в популяционных регистрах врожденных пороков развития, которые существуют в большинстве стран мира. По данным эпидемиологического регистра Московской области за период с 2011 по 2019 годы частота редких ХА составила 0,49 случаев на 1000 рождений, их доля в структуре всех ХА составляет 11,3%. В процентном соотношении структура редких ХА выглядит следующим образом: триплоидии - 41,2%, делеции - 23,9%, несбалансированные транслокации - 10,6%, редкие трисомии - 6%, дупликации - 5,6%, маркерные хромосомы - 3,7%, другие редкие ХА - 9%. Учитывая международные данные можно предполагать, что полученная популяционная частота редких ХА является заниженной за счет их недоучета и недостаточной диагностики в исследуемом регионе, что требует дальнейших исследований. The prevalence of rare chromosomal abnormalities (CAs) has not yet been reliably determined. This task can be accomplished by registering cases of rare CAs among fetuses, live births and stillborn in population-based registries of congenital malformations that exist in most countries of the world. According to the epidemiological register of the Moscow region for the period from 2011 to 2019, the prevalence rate of rare CA was 0,49 cases per 1000 births, their share in the structure of all CA is 11,3%. In percentage terms, the structure of rare CAs is presented as follows: triploidy - 41.2%, deletions - 23.9%, unbalanced translocations - 10.6%, rare trisomies - 6%, duplications - 5.6%, marker chromosomes - 3.7%, other rare CAs - 9%. Taking into account the international data, we can assume that the obtained prevalence rate of rare CAs is underestimated due to their underreporting and insufficient diagnosis in the studied region, which requires further research.

Omphalocele in Finland from 1993 to 2014: Trends, Prevalence, Mortality, and Associated Malformations—A Population-Based Study

2020 ◽  
Author(s):  
Arimatias Raitio ◽  
Asta Tauriainen ◽  
Johanna Syvänen ◽  
Teemu Kemppainen ◽  
Eliisa Löyttyniemi ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Infant Mortality ◽  
Chromosomal Abnormalities ◽  
Heart Defects ◽  
Population Based ◽  
Associated Anomalies ◽  
Live Births ◽  
Total Prevalence ◽  
Chromosomal Defects

Abstract Inroduction The aim of this study is to assess the changes in prevalence, mortality and termination pregnancy of omphalocele, and to identify associated anomalies. Materials and Methods A population-based nationwide register study. All cases with omphalocele were identified in the Finnish Register of Congenital Malformations and the Care Register for Health Care from 1993 to 2014 including live births, stillbirths, and terminations of pregnancy due to fetal anomalies. Associated anomalies were recorded and analyzed, and perinatal and infant mortality and prevalence were calculated. Results There were 600 cases with omphalocele including 229 live births, 39 stillbirths, and 332 (55%) abortions. Birth prevalence in Finland was 1.96 per 10,000 births with no consistent trend over time. However, total prevalence was much higher (4.71/10,000) because more than half of these families chose option for the termination of pregnancy. Omphalocele is often complicated with other anomalies; most commonly chromosomal abnormalities (9.3%), heart defects (6.3%), central nervous system anomalies (3.0%), gastrointestinal, and urogenital malformations (both 2.0%). Proportion of chromosomal and central nervous system abnormalities were even higher in terminated pregnancies. Overall infant mortality was 22%. Total 1-year survival rates for isolated omphalocele, cases with multiple anomalies and neonates with chromosomal defects were 80, 88, and 17%, respectively. Conclusion Omphalocele is a rare congenital anomaly, often associated with other malformations. Our data suggest that isolated cases may be more common than previously thought. In the absence of chromosomal defects, survival is reasonably good. Regardless, more than half of these pregnancies are often terminated.

scholarly journals Major Congenital Malformations in Barbados: The Prevalence, the Pattern, and the Resulting Morbidity and Mortality

2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Keerti Singh ◽  
Kandamaran Krishnamurthy ◽  
Camille Greaves ◽  
Latha Kandamaran ◽  
Anders L. Nielsen ◽  
...  
Keyword(s):  
Congenital Malformations ◽  
Circulatory System ◽  
Neonatal Morbidity ◽  
Population Based ◽  
Morbidity And Mortality ◽  
Queen Elizabeth Hospital ◽  
Population Based Study ◽  
Live Births ◽  
Major Congenital Malformations ◽  
The Individual

Objectives. To study the prevalence and the pattern of major congenital malformations and its contribution to the overall perinatal morbidity and mortality. Methods. It is a retrospective population based study. It includes all major congenital malformations in newborns during 1993-2012. The data was collected from the birth register, the neonatal admission register and the individual patient records at the Queen Elizabeth Hospital where over 90% of deliveries take place and it is the only facility for the care of sick newborns in this country. Results. The overall prevalence of major congenital malformations among the live births was 59/10,000 live births and that among the stillbirths was 399/10,000 stillbirths. Circulatory system was the most commonly affected and accounted for 20% of all the major congenital malformations. Individually, Down syndrome (4.1/10, 000 live births) was the commonest major congenital malformation. There was a significant increase in the overall prevalence during the study period. Major congenital malformations were responsible for 14% of all neonatal death. Conclusions. Less than 1% of all live newborns have major congenital malformations with a preponderance of the malformations of the circulatory system. Major congenital malformations contribute significantly to the overall neonatal morbidity and mortality in this country.

Trends in early prenatal screening for chromosomal abnormalities and congenital malformations in Russia in 2018

2020 ◽  
pp. 76-78
Author(s):  
Е.А. Калашникова ◽  
Е.Н. Андреева ◽  
П.А. Голошубов ◽  
Н.О. Одегова ◽  
Е.В. Юдина ◽  
...  
Keyword(s):  
Reference Values ◽  
Congenital Malformations ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
First Trimester ◽  
First Trimester Screening ◽  
Trimester Screening ◽  
Overall Effectiveness ◽  
Regions Of Russia

В ходе анализа результатов раннего пренатального скрининга (РПС) в России за 2018 г. (Аудит-2019) дана оценка качества мероприятий, общей эффективности и тенденций развития системы РПС в субъектах РФ посредством сравнения рассчитанных основных организационных, методологических и интегральных показателей с международными референтными значениями. In the course of analyzing the results of early prenatal combined first-trimester screening (FTS) in Russia for 2018 (Audit-2019) the assessment of the quality of measures, the overall effectiveness and trends in the development of the FTS system in the regions of Russia. They are presented by comparing the calculated main organizational, methodological and integral indicators with international reference values.

scholarly journals Maternal depression and loss of children under the one-child family planning policy in China: a cross-sectional study of 300 000 women

BMJ Open ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. e048554
Author(s):  
Hanyu Wang ◽  
Eric Frasco ◽  
Jie Shang ◽  
Minne Chen ◽  
Tong Xin ◽  
...  
Keyword(s):  
Family Planning ◽  
Maternal Depression ◽  
Urban Areas ◽  
The Elderly ◽  
Population Based ◽  
Cross Sectional Study ◽  
Only Child ◽  
Cross Sectional ◽  
Live Births ◽  
Child Group

ObjectivesThis study aims to explore the association between maternal depression and the loss of the only child under the family-planning (FP) policy.DesignCross-sectional data from a Chinese population-based study were analysed.SettingPopulation from 10 (5 rural and 5 urban) areas in China.ParticipantsAround 300 000 females were included in the study. The FP group was defined as women with one or two live births. Those with no surviving child were classified into the loss-of-only-child group. The non-FP group included women who had more than two live births. Logistic regression was used to assess the relationship between major depressive disorder (MDD) and family types, after stratification and adjustment.OutcomeMDD was assessed using the Composite International Diagnostic Inventory.ResultsThe odds of MDD are 1.42 times higher in the FP group in general (OR=1.42, 95% CI: 1.28 to 1.57), as opposed to the non-FP group. In particular, the odds of MDD are 1.36 times greater in the non-loss-of-only-child group (OR=1.36, 95% CI: 1.21 to 1.51) and 2.80 (OR=2.80, 95% CI: 0.88 to 8.94) times greater in the loss-of-only-child group, compared with the non-FP group. The associations between FP groups and MDD appeared to be stronger in the elderly population, in those who were married, less educated and those with a higher household income. The association was found progressively stronger in those who lost their only child.ConclusionsPeople in the FP group, especially those who lost their only child, are more susceptible to MDD than their counterparts in the non-FP group. Mental health programmes should give special care to those who lost their only child and take existing social policies and norms, such as FP policies, into consideration.

scholarly journals Mortality beyond emergency threshold in a silent crisis– results from a population-based mortality survey in Ouaka prefecture, Central African Republic, 2020

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Eve Robinson ◽  
Lawrence Lee ◽  
Leslie F. Roberts ◽  
Aurelie Poelhekke ◽  
Xavier Charles ◽  
...  
Keyword(s):  
Central African Republic ◽  
Causes Of Death ◽  
Maternal Mortality Ratio ◽  
Mortality Rates ◽  
Population Based ◽  
Access To Healthcare ◽  
Mortality Data ◽  
Humanitarian Emergency ◽  
The World ◽  
Mortality Survey

Abstract Background The Central African Republic (CAR) suffers a protracted conflict and has the second lowest human development index in the world. Available mortality estimates vary and differ in methodology. We undertook a retrospective mortality study in the Ouaka prefecture to obtain reliable mortality data. Methods We conducted a population-based two-stage cluster survey from 9 March to 9 April, 2020 in Ouaka prefecture. We aimed to include 64 clusters of 12 households for a required sample size of 3636 persons. We assigned clusters to communes proportional to population size and then used systematic random sampling to identify cluster starting points from a dataset of buildings in each commune. In addition to the mortality survey questions, we included an open question on challenges faced by the household. Results We completed 50 clusters with 591 participating households including 4000 household members on the interview day. The median household size was 7 (interquartile range (IQR): 4—9). The median age was 12 (IQR: 5—27). The birth rate was 59.0/1000 population (95% confidence interval (95%-CI): 51.7—67.4). The crude and under-five mortality rates (CMR & U5MR) were 1.33 (95%-CI: 1.09—1.61) and 1.87 (95%-CI: 1.37–2.54) deaths/10,000 persons/day, respectively. The most common specified causes of death were malaria/fever (16.0%; 95%-CI: 11.0–22.7), violence (13.2%; 95%-CI: 6.3–25.5), diarrhoea/vomiting (10.6%; 95%-CI: 6.2–17.5), and respiratory infections (8.4%; 95%-CI: 4.6–14.8). The maternal mortality ratio (MMR) was 2525/100,000 live births (95%-CI: 825—5794). Challenges reported by households included health problems and access to healthcare, high number of deaths, lack of potable water, insufficient means of subsistence, food insecurity and violence. Conclusions The CMR, U5MR and MMR exceed previous estimates, and the CMR exceeds the humanitarian emergency threshold. Violence is a major threat to life, and to physical and mental wellbeing. Other causes of death speak to poor living conditions and poor access to healthcare and preventive measures, corroborated by the challenges reported by households. Many areas of CAR face similar challenges to Ouaka. If these results were generalisable across CAR, the country would suffer one of the highest mortality rates in the world, a reminder that the longstanding “silent crisis” continues.

Chromosomal Abnormalities among Children with Congenital Malformations

2010 ◽  
Vol 10 (1-3) ◽  
pp. 57-63 ◽  
Author(s):  
Radhakrishnan Yashwanth ◽  
Nallathambi Chandra ◽  
P M. Gopinath
Keyword(s):  
Congenital Malformations ◽  
Chromosomal Abnormalities

scholarly journals The World Checklist of Vascular Plants, a continuously updated resource for exploring global plant diversity

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Rafaël Govaerts ◽  
Eimear Nic Lughadha ◽  
Nicholas Black ◽  
Robert Turner ◽  
Alan Paton
Keyword(s):  
Plant Diversity ◽  
Vascular Plants ◽  
Sustainable Use ◽  
Data Reuse ◽  
Global Biodiversity Information Facility ◽  
Full Dataset ◽  
The World ◽  
Technical Validation ◽  
International Data ◽  
Data Collation

AbstractThe World Checklist of Vascular Plants (WCVP) is a comprehensive list of scientifically described plant species, compiled over four decades, from peer-reviewed literature, authoritative scientific databases, herbaria and observations, then reviewed by experts. It is a vital tool to facilitate plant diversity research, conservation and effective management, including sustainable use and equitable sharing of benefits. To maximise utility, such lists should be accessible, explicitly evidence-based, transparent, expert-reviewed, and regularly updated, incorporating new evidence and emerging scientific consensus. WCVP largely meets these criteria, being continuously updated and freely available online. Users can browse, search, or download a user-defined subset of accepted species with corresponding synonyms and bibliographic details, or a date-stamped full dataset. To facilitate appropriate data reuse by individual researchers and global initiatives including Global Biodiversity Information Facility, Catalogue of Life and World Flora Online, we document data collation and review processes, the underlying data structure, and the international data standards and technical validation that ensure data quality and integrity. We also address the questions most frequently received from users.

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