排序方式: 共有27条查询结果,搜索用时 31 毫秒
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Francesca Bardi Pien Bosschieter Joke Verheij Attie Go Monique Haak Mireille Bekker Esther Sikkel Audrey Coumans Eva Pajkrt Caterina Bilardo 《黑龙江环境通报》2020,40(2):197-205
Objectives
To give an overview of the genetic and structural abnormalities occurring in fetuses with nuchal translucency (NT) measurement exceeding the 95th percentile at first-trimester screening and to investigate which of these abnormalities would be missed if cell-free fetal DNA (cfDNA) were used as a first-tier screening test for chromosomal abnormalities.Methods
This is a national study including 1901 pregnancies with NT≥95th percentile referred to seven university hospitals in the Netherlands between 1 January 2010 and 1 January 2016. All cases with unknown pregnancy outcome were excluded. Results of detailed ultrasound examinations, karyotyping, genotyping, pregnancy and neonatal outcomes, investigation by a clinical geneticist and post-mortem investigations were collected.Results
In total, 821 (43%) pregnancies had at least one abnormality. The rate of abnormalities was 21% for fetuses with NT between 95th and 99th percentile and 62% for fetuses with NT≥99th percentile. Prevalence of single-gene disorders, submicroscopic, chromosomal and structural abnormalities was 2%, 2%, 30% and 9%, respectively.Conclusion
Although cfDNA is superior to the combined test, especially for the detection of trisomy 21, 34% of the congenital abnormalities occurring in fetuses with increased NT may remain undetected in the first trimester of pregnancy, unless cfDNA is used in combination with fetal sonographic assessment, including NT measurement. 相似文献4.
Dick Oepkes G. C. Page-Christiaens Caroline J. Bax Mireille N. Bekker Catia M. Bilardo Elles M. J. Boon G. Heleen Schuring-Blom Audrey B. C. Coumans Brigitte H. Faas Robert-Jan H. Galjaard Attie T. Go Lidewij Henneman Merryn V. E. Macville Eva Pajkrt Ron F. Suijkerbuijk Karin Huijsdens-van Amsterdam Diane Van Opstal E. J. Verweij Marjan M. Weiss Erik A. Sistermans and for the Dutch NIPT Consortium 《黑龙江环境通报》2016,36(12):1083-1090
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Kim Bronsgeest Eline E. R. Lust Lidewij Henneman Neeltje Crombag Caterina M. Bilardo Daphne Stemkens Robert-Jan H. Galjaard Esther Sikkel Sanne H. van der Hout Mireille N. Bekker Monique C. Haak 《黑龙江环境通报》2023,43(7):873-880
Objectives
First-trimester ultrasound screening is increasingly performed to detect fetal anomalies early in pregnancy, aiming to enhance reproductive autonomy for future parents. This study aims to display the current practice of first-trimester ultrasound screening in developed countries.Method
An online survey among 47 prenatal screening experts in developed countries.Results
First-trimester structural anomaly screening is available in 30 of the 33 countries and is mostly offered to all women with generally high uptakes. National protocols are available in 23/30 (76.7%) countries, but the extent of anatomy assessment varies. Monitoring of scan quality occurs in 43.3% of the countries. 23/43 (53.5%) of the respondents considered the quality of first-trimester ultrasound screening unequal in different regions of their country.Conclusions
First-trimester screening for structural fetal anomalies is widely offered in developed countries, but large differences are reported in availability and use of screening protocols, the extent of anatomy assessment, training and experience of sonographers and quality monitoring systems. Consequently, this results in an unequal offer to parents in developed countries, sometimes even within the same country. Furthermore, as offer and execution differ widely, this has to be taken into account when results of screening policies are scientifically published or compared. 相似文献7.
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