共查询到20条相似文献,搜索用时 15 毫秒
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Merlin G. Butler 《黑龙江环境通报》2017,37(1):81-94
This review summarizes the status of genetic laboratory testing in Prader–Willi syndrome (PWS) with different genetic subtypes, most often a paternally derived 15q11–q13 deletion and discusses benefits and limitations related to prenatal screening. Medical literature was searched for prenatal screening and genetic laboratory testing methods in use or under development and discussed in relationship to PWS. Genetic testing includes six established laboratory diagnostic approaches for PWS with direct application to prenatal screening. Ultrasonographic, obstetric and cytogenetic reports were summarized in relationship to the cause of PWS and identification of specific genetic subtypes including maternal disomy 15. Advances in genetic technology were described for diagnosing PWS specifically DNA methylation and high-resolution chromosomal SNP microarrays as current tools for genetic screening and incorporating next generation DNA sequencing for noninvasive prenatal testing (NIPT) using cell-free fetal DNA. Positive experiences are reported with NIPT for detection of numerical chromosomal problems (aneuploidies) but not for structural problems (microdeletions). These reports will be discussed along with future directions for genetic screening of PWS. In summary, this review describes and discusses the status of established and ongoing genetic testing options for PWS applicable in prenatal screening including NIPT and future directions for early diagnosis in PWS. © 2016 John Wiley & Sons, Ltd. 相似文献
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E. Joanne Verweij Martine C. de Vries Esther J. Oldekamp Alex J. Eggink Dick Oepkes Femke Slaghekke Jochem K. H. Spoor Jan A. Deprest Jena L. Miller Ahmet A. Baschat Philip L. J. DeKoninck 《黑龙江环境通报》2021,41(8):949-956
Since the completion of the Management of Myelomeningocoele Study, maternal-fetal surgery for spina bifida has become a valid option for expecting parents. More recently, multiple groups are exploring a minimally invasive approach and recent outcomes have addressed many of the initial concerns with this approach. Based on a previously published framework, we attempt to delineate the developmental stage of the surgical techniques. Furthermore, we discuss the barriers of performing randomized controlled trials comparing two surgical interventions and suggest that data collection through registries is an alternative method to gather high-grade evidence. 相似文献
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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14.
Carrier screening tests reproductive couples for their risk of having children affected by serious monogenic conditions. Carrier screening has historically been offered for certain conditions in high-risk populations. However, more recent evidence has shown that offering carrier screening to all patients, regardless of their ethnicity, more effectively and equitably identifies at-risk couples. Coupled with technology that enables screening for a nearly unlimited number of conditions, this expanded carrier screening (ECS) approach is now supported by professional society guidelines. Despite recent recommendations by the American College of Medical Genetics and Genomics to screen all patients who are pregnant or considering pregnancy for 113 conditions, questions remain about what conditions should be included on a core ECS panel. Here, we briefly review the history of carrier screening and guidelines on criteria for panel design. We then suggest which of these criteria are most critical, as well as thresholds to identify which conditions meet these criteria. Based on these interpretations, we recommend a core panel of 64 conditions that would identify the vast majority of at-risk couples. Widespread adoption of a core panel such as this would result in a marked improvement in the number of patients currently receiving comprehensive carrier screening. 相似文献
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Anne Pinton Julia Boubnova François Becmeur Pierre Kuhn Marie-Victoire Senat Julien Stirnemann Marianne Capelle Jonathan Rosenblatt Jérôme Massardier Pascal Vaast Gwenaelle Le Bouar Amélie Desrumaux Laure Connant Laetitia Begue Benoit Parmentier Franck Perrotin Alain Diguet Guillaume Benoist Charles Muszynski Aurélien Scalabre Norbert Winer Jean-Luc Michel Florence Casagrandre-Magne Jean-Marie Jouannic Denis Gallot Perrine Coste Mazeau Emmanuel Sapin Alexis Maatouk Anne-Hélène Saliou Loïc Sentilhes Florence Biquard Nicolas Mottet Romain Favre Alexandra Benachi Nicolas Sananès 《黑龙江环境通报》2020,40(8):949-957
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