scholarly journals National birth prevalence, associated anomalies and mortality for Gastroschisis in Sweden

2021 ◽  
Author(s):  
C Caldeman ◽  
A Fogelström ◽  
J Oddsberg ◽  
C Mesas Burgos ◽  
A Löf Granström
Keyword(s):  
Associated Anomalies ◽  
Birth Prevalence

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.

Birth prevalence of exomphalos, associated anomalies and outcomes in England & Wales: 1997-2007

2010 ◽  
Vol 95 (Supplement 1) ◽  
pp. Fa10-Fa10 ◽  
Author(s):  
C. Smith ◽  
M. Bythell ◽  
C. Rounding ◽  
E. Draper
Keyword(s):  
Associated Anomalies ◽  
Birth Prevalence

Clinical Characteristics and Associated Anomalies in Children with Solitary Kidney

2010 ◽  
Vol 14 (1) ◽  
pp. 42 ◽  
Author(s):  
Joo Whee Kim ◽  
Se Eun Lee ◽  
Yun Hye Jung ◽  
Kyung Hee Han ◽  
Hyun Kyung Lee ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Solitary Kidney ◽  
Associated Anomalies

Radiologic findings of truncus arteriosus; incidence and associated anomalies

1992 ◽  
Vol 28 (1) ◽  
pp. 156
Author(s):  
Hyeon Kyeong Lee ◽  
Kyung Mo Yeon ◽  
Young Hi Choe ◽  
In One Kim ◽  
Yun Hyun Choe ◽  
...  
Keyword(s):  
Truncus Arteriosus ◽  
Associated Anomalies ◽  
Radiologic Findings

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.

scholarly journals Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up

2021 ◽  
Vol 7 (2) ◽  
pp. 22
Author(s):  
Jamie Matteson ◽  
Stanley Sciortino ◽  
Lisa Feuchtbaum ◽  
Tracey Bishop ◽  
Richard S. Olney ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Program Implementation ◽  
Screening Program ◽  
Birth Prevalence ◽  
Variant Of Uncertain Significance ◽  
Implementation Challenges ◽  
Screening Programs ◽  
Uncertain Significance ◽  
Long Term Follow Up

X-linked adrenoleukodystrophy (ALD) is a recent addition to the Recommended Uniform Screening Panel, prompting many states to begin screening newborns for the disorder. We provide California’s experience with ALD newborn screening, highlighting the clinical and epidemiological outcomes observed as well as program implementation challenges. In this retrospective cohort study, we examine ALD newborn screening results and clinical outcomes for 1,854,631 newborns whose specimens were received by the California Genetic Disease Screening Program from 16 February 2016 through 15 February 2020. In the first four years of ALD newborn screening in California, 355 newborns screened positive for ALD, including 147 (41%) with an ABCD1 variant of uncertain significance (VUS) and 95 males diagnosed with ALD. After modifying cutoffs, we observed an ALD birth prevalence of 1 in 14,397 males. Long-term follow-up identified 14 males with signs of adrenal involvement. This study adds to a growing body of literature reporting on outcomes of newborn screening for ALD and offering a glimpse of what other large newborn screening programs can expect when adding ALD to their screening panel.

Asymptomatic Type II Hyperprolinemia Associated with Hyperglycinemia in Three Siblings

1974 ◽  
Vol 23 (S1) ◽  
pp. 345-347
Author(s):  
F. Mollica ◽  
L. Pavone ◽  
Harvey L. Levy
Keyword(s):  
Mental Retardation ◽  
Carboxylic Acid ◽  
Metabolic Disorder ◽  
Type Ii ◽  
Associated Anomalies ◽  
Rare Metabolic Disorder

Type II hyperprolinemia is a rare metabolic disorder associated with mental retardation, seizures, and EEG anomalies.The authors describe a Sicilian family, detected screening for aminoacidopathies by the method of Scriver, in which three siblings have high levels of serum proline and urinary pyrroline-5-carboxylic acid, without any signs of associated anomalies.

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