scholarly journals Gastroschisis in Finland 1993 to 2014—Increasing Prevalence, High Rates of Abortion, and Survival: A Population-Based Study

2019 ◽  
Vol 30 (06) ◽  
pp. 536-540
Author(s):  
Arimatias Raitio ◽  
Asta Lahtinen ◽  
Johanna Syvänen ◽  
Teemu Kemppainen ◽  
Eliisa Löyttyniemi ◽  
...  
Keyword(s):  
Infant Mortality ◽  
Live Birth ◽  
Survival Rates ◽  
Population Based ◽  
Good Prognosis ◽  
Associated Anomalies ◽  
Population Based Study ◽  
Birth Prevalence ◽  
Live Births ◽  
Total Prevalence

Abstract Introduction The study aims to assess the changes in prevalence and mortality of gastroschisis, and to identify associated anomalies. Materials and Methods It is a population-based nationwide study. All gastroschisis cases 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 prevalence and infant mortality were calculated. Results There were 320 cases of gastroschisis; 235 (73%) live births, 16 (5%) stillbirths, and 69 (22%) terminations of pregnancy. Live birth prevalence of gastroschisis in Finland was lower than generally reported (1.73 in 10,000). However, due to relatively high rates of abortion, our total prevalence of 2.57/10,000 was similar with other reports. The most common risk factor was young maternal age. Babies with gastroschisis were born prematurely, on average on the 36th week and most are delivered by caesarean section. There was a significant increasing trend in live birth prevalence (p = 0.0018). Overall infant mortality was 7.7% (18/235), 7.2% (16/222) in simple gastroschisis and 15% (2/13) in complex gastroschisis. Associated anomalies were rare both in aborted fetuses and neonates, and there was only one case with a chromosomal abnormality. Conclusion Gastroschisis is usually an isolated anomaly with increasing birth prevalence and excellent survival rates. Regardless of the good prognosis, the abortion rates in Finland are higher than previously reported, and we hypothesize this to be due to lack of appropriate antenatal counselling.

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 Atrioventricular septal defects among infants in Europe: a population-based study of prevalence, associated anomalies, and survival

2012 ◽  
Vol 23 (4) ◽  
pp. 560-567 ◽  
Author(s):  
Nikolas Christensen ◽  
Helle Andersen ◽  
Ester Garne ◽  
Diana Wellesley ◽  
Marie-Claude Addor ◽  
...  
Keyword(s):  
Confidence Interval ◽  
Coarctation Of The Aorta ◽  
Population Based ◽  
Chromosomal Anomalies ◽  
Population Based Study ◽  
Live Births ◽  
Atrioventricular Septal Defects ◽  
Septal Defects ◽  
Total Prevalence ◽  
Cardiac Lesions

AbstractObjectiveTo describe the epidemiology of chromosomal and non-chromosomal cases of atrioventricular septal defects in Europe.MethodsData were obtained from EUROCAT, a European network of population-based registries collecting data on congenital anomalies. Data from 13 registries for the period 2000–2008 were included.ResultsThere was a total of 993 cases of atrioventricular septal defects, with a total prevalence of 5.3 per 10,000 births (95% confidence interval 4.1 to 6.5). Of the total cases, 250 were isolated cardiac lesions, 583 were chromosomal cases, 79 had multiple anomalies, 58 had heterotaxia sequence, and 23 had a monogenic syndrome. The total prevalence of chromosomal cases was 3.1 per 10,000 (95% confidence interval 1.9 to 4.3), with a large variation between registers. Of the 993 cases, 639 cases were live births, 45 were stillbirths, and 309 were terminations of pregnancy owing to foetal anomaly. Among the groups, additional associated cardiac anomalies were most frequent in heterotaxia cases (38%) and least frequent in chromosomal cases (8%). Coarctation of the aorta was the most common associated cardiac defect. The 1-week survival rate for live births was 94%.ConclusionOf all cases, three-quarters were associated with other anomalies, both chromosomal and non-chromosomal. For infants with atrioventricular septal defects and no chromosomal anomalies, cardiac defects were often more complex compared with infants with atrioventricular septal defects and a chromosomal anomaly. Clinical outcomes for atrioventricular septal defects varied between regions. The proportion of termination of pregnancy for foetal anomaly was higher for cases with multiple anomalies, chromosomal anomalies, and heterotaxia sequence.

Asian Oral-Facial Cleft Birth Prevalence

2006 ◽  
Vol 43 (5) ◽  
pp. 580-589 ◽  
Author(s):  
Margaret E. Cooper ◽  
Jessica S. Ratay ◽  
Mary L. Marazita
Keyword(s):  
Literature Review ◽  
Cleft Palate ◽  
Live Birth ◽  
Cleft Lip ◽  
Population Based ◽  
Prevalence Rates ◽  
Birth Prevalence ◽  
Live Births ◽  
Asian Populations ◽  
Apparent Reason

Objective: To determine the clefting birth prevalence among Asian populations, specifically Chinese and Japanese, using raw counts from nonoverlapping published studies of Asian populations, and to investigate whether Asian clefting rates have been interpreted accurately as being up to twice the Caucasian rate. Design: A literature review of articles giving raw counts of clefting in Asian populations, primarily Japanese and Chinese. Main Outcome Measures: Where possible, clefts were identified by the patients’ ethnicity, country of origin, cleft type, syndromic status, and birth status. Results: Prevalence rates of cleft lip with or without cleft palate per 1000 live births are reported. Syndromic plus nonsyndromic cleft lip with or without cleft palate: Chinese, 1.30; Japanese, 1.34; Other Asian, 1.47; and total, 1.33. Nonsyndromic cleft lip with or without cleft palate: Chinese, 1.20; Japanese, 1.18; Other Asian, 1.22; and total, 1.19. Conclusions: Overall, Chinese and Japanese live birth prevalence rates for nonsyndromic cleft lip with or without cleft palate, based on the published reports of birth prevalence, are significantly lower than the oft-quoted rate of 2 per 1000 for Asians. The apparent reason for the discrepancy is that many published prevalence rates included all pregnancies (live births plus pregnancy losses) and do not distinguish between syndromic and nonsyndromic clefts or between cleft palate alone and cleft lip with or without cleft palate. These results demonstrate that it is extremely important for current population-based studies of clefts to include careful delineation of population groups, syndromes, cleft type, and birth status.

scholarly journals Birth prevalence of tetrahydrobiopterin deficiency in China: data from the national newborn screening program, 2013–2019

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Xuelian Yuan ◽  
Jun Zhu ◽  
Hanmin Liu ◽  
Liangcheng Xiang ◽  
Yongna Yao ◽  
...  
Keyword(s):  
Screening Program ◽  
National Level ◽  
Recall Rate ◽  
Birth Prevalence ◽  
Live Births ◽  
Provincial Level ◽  
Tetrahydrobiopterin Deficiency ◽  
Total Prevalence ◽  
Entire Country ◽  
Northern Regions

Abstract Background Tetrahydrobiopterin deficiency (BH4D), a less common form of hyperphenylalaninemia (HPA), can lead to severe developmental retardation if untreated. Little has been reported on the prevalence of BH4D among live births worldwide. This study examined its prevalence across China and between geographical areas within the country. Methods We analyzed data from the Chinese national screening program for HPA in newborns between 2013 and 2019. BH4D prevalence was examined by province, region and the entire country. Provincial-level prevalence was estimated from the number of confirmed BH4D cases and screened newborns, after adjusting for HPA-positive recall rate. Regional- and national-level prevalences were estimated by summing provincial-level prevalences after weighting them by the number of live births. A Poisson distribution was assumed in order to calculate 95% confidence intervals (CIs) for prevalence. Results Among 107,078,115 newborns screened for HPA in China, 380 with BH4D were identified, corresponding to a total prevalence of 3.8 per 1,000,000 live births. Prevalence was higher in eastern regions (5.9 per 1,000,000) and northern regions (4.1 per 1,000,000) of China than in southern regions (1.6 per 1,000,000) or northwestern regions (1.7 per 1,000,000). Across the entire country, 3.9% cases of HPA were diagnosed as BH4D, and this proportion reached as high as 15.1% in the southern part of the country. Conclusions These first insights into BH4D prevalence across China suggest slightly higher prevalence than in other countries, and it varies substantially by region. More attention should be paid to early diagnosis and timely treatment of BH4D.

Race differences in infant mortality from endogenous causes: A population-based study in North Carolina

1994 ◽  
Vol 47 (2) ◽  
pp. 119-130 ◽  
Author(s):  
Robert Michielutte ◽  
Mary Lou Moore ◽  
Paul J. Meis ◽  
J.M. Ernest ◽  
H. Bradley Wells
Keyword(s):  
North Carolina ◽  
Infant Mortality ◽  
Population Based ◽  
Race Differences ◽  
Population Based Study

scholarly journals Impact of tumor Epstein-Barr virus status on presenting features and outcome in age-defined subgroups of patients with classic Hodgkin lymphoma: a population-based study

Blood ◽  
2005 ◽  
Vol 106 (7) ◽  
pp. 2444-2451 ◽  
Author(s):  
Ruth F. Jarrett ◽  
Gail L. Stark ◽  
Jo White ◽  
Brian Angus ◽  
Freda E. Alexander ◽  
...  
Keyword(s):  
Hodgkin Lymphoma ◽  
Older Patients ◽  
Epstein Barr Virus ◽  
Statistical Significance ◽  
Survival Rates ◽  
Population Based ◽  
Population Based Study ◽  
Barr Virus ◽  
Epstein Barr ◽  
The Impact

AbstractThe association between tumor Epstein-Barr virus (EBV) status and clinical outcome in Hodgkin lymphoma (HL) is controversial. This population-based study assessed the impact of EBV status on survival in age-stratified cohorts of adults with classic HL (cHL). Data from 437 cases were analyzed with a median follow-up of 93 months. Overall survival (OS) was significantly better for EBV-negative compared with EBV-positive patients (P < .001), with 5-year survival rates of 81% and 66%, respectively; disease-specific survival (DSS) was also greater for EBV-negative patients (P = .03). The impact of EBV status varied with age at diagnosis. In patients aged 16 to 34 years, EBV-associated cases had a survival advantage compared with EBV-negative cases, but differences were not statistically significant (P = .21). Among patients 50 years or older, EBV positivity was associated with a significantly poorer outcome (P = .003). Excess deaths occurred in EBV-positive patients with both early- and advanced-stage disease. In multivariate analysis of OS in the older patients, EBV status retained statistical significance after adjusting for the effects of sex, stage, and B symptoms (P = .01). Impaired immune status may contribute to the development of EBV-positive cHL in older patients, and strategies aimed at boosting the immune response should be investigated in the treatment of these patients. (Blood. 2005;106:2444-2451)

Infant Mortality Among Singletons and Twins in Japan During 1999–2008 on the Basis of Risk Factors

2013 ◽  
Vol 16 (2) ◽  
pp. 639-644 ◽  
Author(s):  
Yoko Imaizumi ◽  
Kazuo Hayakawa
Keyword(s):  
Infant Mortality ◽  
Maternal Age ◽  
Survival Rates ◽  
Mortality Rates ◽  
Vital Statistics ◽  
Infant Mortality Rate ◽  
Age Group ◽  
Neonatal Deaths ◽  
Infant Deaths ◽  
Live Births

The infant mortality rate (IMR) among single and twin births from 1999 to 2008 was analyzed using Japanese Vital Statistics. The IMR was 5.3-fold higher in twins than in singletons in 1999 and decreased to 3.9-fold in 2008. The reduced risk of infant mortality in twins relative to singletons may be related, partially, to survival rates, which improved after fetoscopic laser photocoagulation for twin — twin transfusion syndrome. The proportion of neonatal deaths among total infant deaths was 54% for singletons and 74% for twins. Thus, intensive care of single and twin births may be very important during the first month of life to reduce the IMR. The IMR decreased as gestational age (GA) rose in singletons, whereas the IMR in twins decreased as GA rose until 37 weeks and increased thereafter. The IMR was significantly higher in twins than in singletons from the shortest GA (<24 weeks) to 28 weeks as well as ≥38 weeks, whereas the IMR was significantly higher in singletons than in twins from 30 to 36 weeks. As for maternal age, the early neonatal and neonatal mortality rates as well as the IMR in singletons were significantly higher in the youngest maternal age group than in the oldest one, whereas the opposite result was obtained in twins. The lowest IMR in singletons was 1.1 per 1,000 live births for ≥38 weeks of gestation and heaviest birth weight (≥2,000 g), while the lowest IMR in twins was 1.8 at 37 weeks and ≥2,000 g.

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