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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13.
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Cell-free DNA (cfDNA) testing for fetal aneuploidy is one of the most important technical advances in prenatal care. Additional chromosome targets beyond common aneuploidies, including the 22q11.2 microdeletion, are now available because of this clinical testing technology. While there are numerous potential benefits, 22q11.2 microdeletion screening using cfDNA testing also presents significant limitations and pitfalls. Practitioners who are offering this test should provide comprehensive pretest and posttest prenatal counselling. The discussion should include the possibility of an absence of a result, as well as the risk of possible discordance between cfDNA screening results and the actual fetal genetic chromosomal constitution. The goal of this review is to provide an overview of the cfDNA testing technologies for 22q11.2 microdeletions screening, describe the current state of test validation and clinical experience, review “no results” and discordant findings based on differing technologies, and discuss management options. 相似文献
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Francesca R. Grati Denise Molina Gomes Devika Ganesamoorthy Livia Marcato Simona De Toffol Eleonore Blondeel Francesca Malvestiti Laurence Loeuillet Anna Maria Ruggeri Robert Wainer Federico Maggi Azzedine Aboura Celine Dupont Anne Claude Tabet Fabien Guimiot Howard R. Slater Giuseppe Simoni François Vialard 《黑龙江环境通报》2013,33(1):32-41
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Francesca R. Grati Francesca Malvestiti Beatrice Grimi Elisa Gaetani Anna Maria Di Meco Anna Trotta Rosaria Liuti Sara Chinetti Francesca Dulcetti Anna Maria Ruggeri Cristina Agrati Giuditta Frascoli Silvia Milani Simona De Toffol Lorenza Martinoni Silvia Paganini Livia Marcato Federico Maggi Giuseppe Simoni 《黑龙江环境通报》2013,33(5):502-508
20.
Francesca Porri Gerardo I. Zardi Christopher D. McQuaid Sarah Radloff 《Marine Biology》2007,152(3):631-637
Settlement is a major determinant of intertidal populations. However, the energy costs of lost larvae are very high. Accordingly,
arrival and attachment on suitable substrata are essential requirements for species’ survival. On the intertidal, the presence
of cues left by adult or juvenile conspecifics could be vital for the successful establishment of larvae arriving on the shore.
Two mussel species, the indigenous Perna perna and the invasive Mytilus galloprovincialis, co-occur on the lower eulittoral zone on the south coast of South Africa. P.
perna dominates the low and M. galloprovincialis the high mussel zones, with co-existence in the mid mussel zone. This study tested the hypothesis of settlement selectivity
for conspecifics in these two mussel species, to understand whether the final adult distribution of mussels on the shores
is determined by active behavioural and chemical mechanisms. Preferential selection by larvae for conspecifics was tested
in the field during the peak settlement period in 2004 in natural mussel beds across zones and through manipulative experiments
in the mid-zone where the species co-exist. On natural beds, settlement was determined by counts of settlers attached over
48 h onto artificial collectors. Collectors were placed on beds of P. perna and M. galloprovincialis present at both high- and low-adult densities, as well as in mixed beds. On such natural beds, settlers of both species consistently
favored low-zone P. perna beds. Settlement patterns over 24 h onto experimentally created mussel patches consisting of P.
perna, M. galloprovincialis or the two species combined beds, set in the mixed zone, did not conform with the results of the natural beds study: settlers
of both species settled with no discrimination among different patches. The results indicate that mussels, which are sedentary,
lack attraction to conspecifics at settlement. This highlights the importance of tidal height in setting settlement rates,
and of post-settlement events in shaping populations of these broadcast spawners. 相似文献