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1-20 of 55
Keywords: Down syndrome
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Journal Articles
The Natural History of Trisomy 21: Outcome Data from a Large Tertiary Referral Centre
Available to PurchaseClare O’Connor, Rebecca Moore, Peter McParland, Heather Hughes, Barbara Cathcart, Shane Higgins, Rhona Mahony, Steve Carroll, Jennifer Walsh, Fionnuala McAuliffe
Journal:
Fetal Diagnosis and Therapy
Fetal Diagn Ther (2021) 48 (8): 575–581.
Published Online: 28 September 2021
... or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Trisomy 21 Down syndrome NIPS...
Journal Articles
Is Cisterna Magna Width a Useful First-Trimester Marker of Aneuploidy?
Available to PurchaseMontse Pauta, Maribel Grande, Virginia Borobio, Carmen Illanes, Anna Soler, Laura Nogué, Antoni Borrell
Journal:
Fetal Diagnosis and Therapy
Fetal Diagn Ther (2020) 47 (6): 457–463.
Published Online: 06 November 2019
... responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Aneuploidy Cisterna magna Down syndrome First-trimester marker Posterior fossa Prenatal diagnosis Recent advances in ultrasound...
Journal Articles
Emilia Kostenko, Frederic Chantraine, Katleen Vandeweyer, Maximilian Schmid, Alex Lefevre, Deanna Hertz, Laura Zelle, Jose Luis Bartha, Gian Carlo Di Renzo
Journal:
Fetal Diagnosis and Therapy
Fetal Diagn Ther (2019) 45 (6): 413–423.
Published Online: 21 August 2018
... Economic evaluation Cell-free DNA Genetic testing Fetal diagnosis Down syndrome Trisomy Prenatal screening for trisomy 21 (Down syndrome, T21), trisomy 18 (Edwards syndrome, T18), and trisomy 13 (Patau syndrome, T13) is routinely offered to pregnant women in most European countries. The most...
Journal Articles
Amniotic Fluid Angiogenic and Inflammatory Factor Profiling in Foetal Down Syndrome
Available to PurchaseMonika Zbucka-Kretowska, Karol Charkiewicz, Jan Czerniecki, Joanna Goscik, Slawomir Wolczynski, Piotr Laudanski
Journal:
Fetal Diagnosis and Therapy
Fetal Diagn Ther (2018) 44 (1): 44–50.
Published Online: 15 July 2017
... angiogenic factors in the amniotic fluid of women carrying foetuses with Down syndrome (DS). Methods: After analysis of the karyotyping results, for the purpose of this study, we chose 12 women with foetal DS. For the control group, we selected 12 healthy patients with uncomplicated pregnancies (15-18 weeks...
Journal Articles
Normal Range of Fetal Nasal Bone Length during the Second Trimester in an Afro-Caribbean Population and Likelihood Ratio for Trisomy 21 of Absent or Hypoplastic Nasal Bone
Available to Purchase
Journal:
Fetal Diagnosis and Therapy
Fetal Diagn Ther (2017) 42 (2): 130–136.
Published Online: 21 October 2016
.... The data of all fetuses with Down syndrome were provided by the French West Indies Register of Congenital Malformations (REMALAN). Results: There was a significant linear association between fetal NBL and GA (R 2 = 0. 354). The 50th percentile for NBL increased from 5.0 to 7.0 mm from week 20 to 24...
Journal Articles
Parental Decisions about Prenatal Screening and Diagnosis among Infants with Trisomy 21 in a National Cohort with High Uptake of Combined First-Trimester Screening
Available to PurchaseCaroline Borregaard Miltoft, Camilla B. Wulff, Susanne Kjærgaard, Charlotte K. Ekelund, Ann Tabor, the Danish Fetal Medicine Study Group
Journal:
Fetal Diagnosis and Therapy
Fetal Diagn Ther (2017) 41 (3): 209–214.
Published Online: 23 July 2016
... from any ideas, methods, instructions or products referred to in the content or advertisements. 26 02 2016 27 06 2016 23 7 2016 Diagnosis Down syndrome First trimester Pregnancy outcome Prenatal screening Screening Trisomy 21 Chromosomal abnormalities Pregnancy...
Journal Articles
Angiogenic Gene Expression in Down Syndrome Fetal Hearts
Available to PurchaseOlga Sánchez, Carmen Domínguez, Aina Ruiz, Irene Ribera, Jaume Alijotas, Lluís Cabero, Elena Carreras, Elisa Llurba
Journal:
Fetal Diagnosis and Therapy
Fetal Diagn Ther (2016) 40 (1): 21–27.
Published Online: 01 January 2016
...Olga Sánchez; Carmen Domínguez; Aina Ruiz; Irene Ribera; Jaume Alijotas; Lluís Cabero; Elena Carreras; Elisa Llurba Introduction: Forty percent of Down syndrome (DS) fetuses have congenital heart defects (CHD). An abnormal angiogenic environment has been described in euploid fetuses with CHD...
Journal Articles
How Normal Is a ‘Normal' Heart in Fetuses and Infants with Down Syndrome?
Available to PurchaseEmmeline Calkoen, Bauke Adriaanse, Monique Haak, Margot Bartelings, Adam Kolesnik, Cezary Niszczota, John van Vugt, Arno Roest, Nico Blom, Adriana Gittenberger-de Groot, Monique Jongbloed
Journal:
Fetal Diagnosis and Therapy
Fetal Diagn Ther (2016) 39 (1): 13–20.
Published Online: 20 June 2015
...Emmeline Calkoen; Bauke Adriaanse; Monique Haak; Margot Bartelings; Adam Kolesnik; Cezary Niszczota; John van Vugt; Arno Roest; Nico Blom; Adriana Gittenberger-de Groot; Monique Jongbloed Background: Congenital heart disease is present in 44-56% of fetuses with Down syndrome (DS...
Journal Articles
Trends in Serial Measurements of Ultrasound Markers in Second and Third Trimester Down Syndrome Fetuses
Available to Purchase
Journal:
Fetal Diagnosis and Therapy
Fetal Diagn Ther (2015) 38 (1): 48–54.
Published Online: 30 January 2015
...-trimester Down syndrome (DS) fetuses. Methods: Prenatal databases were searched for cases of continuing DS pregnancies with serial measurements, taken at least two weeks apart. Trends were plotted on previously reported normal ranges. Results: Serial measurements were available in 25 Down syndrome fetuses...
Journal Articles
Uptake of Noninvasive Prenatal Testing in Chinese Women following Positive Down Syndrome Screening
Available to Purchase
Journal:
Fetal Diagnosis and Therapy
Fetal Diagn Ther (2015) 37 (2): 141–147.
Published Online: 18 October 2014
...C.F. Poon; W.C. Tse; K.O. Kou; K.Y. Leung Objectives: To investigate how the introduction of noninvasive prenatal testing (NIPT) influenced women's testing choices following a positive Down syndrome screening. Methods: A retrospective study was conducted to compare differences in the uptake rates...
Journal Articles
Kara Juneau, Patrick E. Bogard, Stephanie Huang, Morassa Mohseni, Eric T. Wang, Paul Ryvkin, Christopher Kingsley, Craig A. Struble, Arnold Oliphant, Jacob M. Zahn
Journal:
Fetal Diagnosis and Therapy
Fetal Diagn Ther (2014) 36 (4): 282–286.
Published Online: 12 September 2014
... or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Aneuploidy Down syndrome Fetal...
Journal Articles
First-Trimester Screening for Down Syndrome with Serum Sampling at Different Gestational Ages: The Effect on Screening Performance
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Journal:
Fetal Diagnosis and Therapy
Fetal Diagn Ther (2014) 36 (4): 293–298.
Published Online: 22 August 2014
...Melanie A.J. Engels; Jos W.R. Twisk; Marinus A. Blankenstein; John M.G. van Vugt Introduction: The objective of this study was to evaluate the performance of first-trimester Down syndrome (DS) screening with serum sampling at different weeks of gestation. Material and Methods: We studied 35,431...
Journal Articles
Patient's Choice between a Non-Invasive Prenatal Test and Invasive Prenatal Diagnosis Based on Test Accuracy
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Journal:
Fetal Diagnosis and Therapy
Fetal Diagn Ther (2014) 35 (3): 193–198.
Published Online: 13 November 2013
... attended for first-trimester combined screening assessment of risk of Down syndrome were invited to participate in an interviewer-administered survey. Women were asked to choose between NIDT (variable detection rate but no miscarriage risk) and IPD (∼100% detection rate but 0.5-1% miscarriage risk...
Journal Articles
Validation of Correction Factors for Serum Markers for First-Trimester Down Syndrome Screening in Singleton Pregnancies Conceived with Assisted Reproduction
Available to PurchaseMelanie A.J. Engels, Eva Pajkrt, Dominique T. Groot, Roel Schats, Jos W.R. Twisk, John M.G. van Vugt
Journal:
Fetal Diagnosis and Therapy
Fetal Diagn Ther (2013) 34 (4): 217–224.
Published Online: 26 October 2013
... from any ideas, methods, instructions or products referred to in the content or advertisements. Assisted reproduction Down syndrome First-trimester screening Free β-hCG PAPP-A Prenatal screening for chromosomal abnormalities has become part of routine antenatal care in the Netherlands...
Journal Articles
Likelihood Ratios to Apply for Nasal Bone, Ductus Venosus and Tricuspid Flow at the 11-13 Weeks' Scan in Down Syndrome Screening
Available to PurchaseMiriam Illa, Raquel Mula, Marta Arigita, Maribel Grande, Anna Gonce, Virginia Borobio, Antoni Borrell
Journal:
Fetal Diagnosis and Therapy
Fetal Diagn Ther (2013) 34 (2): 116–120.
Published Online: 27 June 2013
... their efficacy in expanded and contingent screening strategies for Down syndrome. Material and Methods: NB, DV and TF were assessed in 11,261 singleton fetuses undergoing first trimester combined screening. For each marker, Down syndrome detection rate (DR), false positive rate (FPR), positive, negative...
Journal Articles
Updated Reference Ranges for the Ductus Venosus Pulsatility Index at 11–13 Weeks
Available to PurchaseJoan Sabria, Carmina Comas, Carles Barceló-Vidal, Raul Garcia-Posada, Monica Echevarria, Maria Dolors Gomez-Roig, Antoni Borrell
Journal:
Fetal Diagnosis and Therapy
Fetal Diagn Ther (2012) 32 (4): 271–276.
Published Online: 01 August 2012
.... Ductus venosus Prenatal screening Trisomy 21 Down syndrome Ultrasound markers Ductus venosus (DV) blood velocities assessment has demonstrated to improve the effectiveness of first-trimester combined screening for trisomy 21 [ 1 ], used either as a qualitative marker (present vs. absent...
Journal Articles
Diagnostic Accuracy of Noninvasive Detection of Fetal Trisomy 21 in Maternal Blood: A Systematic Review
Available to Purchase
Journal:
Fetal Diagnosis and Therapy
Fetal Diagn Ther (2012) 31 (2): 81–86.
Published Online: 17 November 2011
... to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Screening Trisomy 21 Down syndrome Maternal blood Noninvasive prenatal diagnosis Review Fetal Diagn Ther 2012;31:81 86 DOI: 10.1159/000333060 Received: July 19, 2011...
Journal Articles
Phenotypic Variability in Fetuses with Down Syndrome: A Case-Control Pathological Evaluation
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Journal:
Fetal Diagnosis and Therapy
Fetal Diagn Ther (2011) 30 (3): 207–214.
Published Online: 23 September 2011
...C. Ramalho; O. Brandão; A. Matias; N. Montenegro Objectives: Evaluation of morphological and morphometric characteristics of fetuses with Down syndrome based on a detailed postmortem examination and comparison of these fetuses with a control group of fetuses with normal karyotype to improve...
Journal Articles
Prenatal Findings in Congenital Leukemia: A Case Report
Available to PurchaseYukiyasu Sato, Yukiko Izumi, Katsura Minegishi, Munekazu Komada, Shigehito Yamada, Kazuyo Kakui, Keiji Tatsumi, Yoshiki Mikami, Hiroshi Fujiwara, Ikuo Konishi
Journal:
Fetal Diagnosis and Therapy
Fetal Diagn Ther (2011) 29 (4): 325–330.
Published Online: 05 February 2011
..., instructions or products referred to in the content or advertisements. Cordocentesis Doppler velocimetry Down syndrome Hydrops fetalis Intrauterine death Hepatosplenomegaly Novel Insights from Clinical Practice Fetal Diagn Ther 2011;29:325 330 DOI: 10.1159/000323582 Received: July 22, 2010...
Journal Articles
Transient Abnormal Myelopoiesis Associated with Down Syndrome Presenting as Severe Hydrops Fetalis: A Case Report
Available to Purchase
Journal:
Fetal Diagnosis and Therapy
Fetal Diagn Ther (2010) 27 (3): 171–173.
Published Online: 16 February 2010
.... In fetuses prior to 24 weeks with NIHF, a chromosomal anomaly is a common association. TAM is a leukaemic condition, almost entirely limited to children with Down syndrome. The presentation of TAM prenatally is unusual but cases may present ultrasonographically with NIHF and associated fetal...
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