Diagnostic Accuracy of Noninvasive Detection of Fetal Trisomy 21 in Maternal Blood: A Systematic Review

Verweij, E. J.; Oever, Jessica M.E. van den; Boer, Marjon A. de; Boon, Elles M. J.; Oepkes, Dick

doi:10.1159/000333060

Cited by 30 publications

(23 citation statements)

References 44 publications

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“…[376][377][378][379] This will likely change the way genetic testing of the fetus found to have sonographic evidence of disease is managed in the future. As a means of keeping abreast of the latest genes and availability of testing, the reader is referred to online resources such as Online Mendelian Inheritance in Man (www.ncbi.nlm.nih.gov/omim) and GeneTests (http:// www.genetests.org/), which are updated regularly.…”

Section: Incidencementioning

confidence: 99%

Diagnosis and Treatment of Fetal Cardiac Disease

Donofrio¹,

Moon-Grady²,

Hornberger³

et al. 2014

Circulation

983

543

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Background— The goal of this statement is to review available literature and to put forth a scientific statement on the current practice of fetal cardiac medicine, including the diagnosis and management of fetal cardiovascular disease. Methods and Results— A writing group appointed by the American Heart Association reviewed the available literature pertaining to topics relevant to fetal cardiac medicine, including the diagnosis of congenital heart disease and arrhythmias, assessment of cardiac function and the cardiovascular system, and available treatment options. The American College of Cardiology/American Heart Association classification of recommendations and level of evidence for practice guidelines were applied to the current practice of fetal cardiac medicine. Recommendations relating to the specifics of fetal diagnosis, including the timing of referral for study, indications for referral, and experience suggested for performance and interpretation of studies, are presented. The components of a fetal echocardiogram are described in detail, including descriptions of the assessment of cardiac anatomy, cardiac function, and rhythm. Complementary modalities for fetal cardiac assessment are reviewed, including the use of advanced ultrasound techniques, fetal magnetic resonance imaging, and fetal magnetocardiography and electrocardiography for rhythm assessment. Models for parental counseling and a discussion of parental stress and depression assessments are reviewed. Available fetal therapies, including medical management for arrhythmias or heart failure and closed or open intervention for diseases affecting the cardiovascular system such as twin–twin transfusion syndrome, lung masses, and vascular tumors, are highlighted. Catheter-based intervention strategies to prevent the progression of disease in utero are also discussed. Recommendations for delivery planning strategies for fetuses with congenital heart disease including models based on classification of disease severity and delivery room treatment will be highlighted. Outcome assessment is reviewed to show the benefit of prenatal diagnosis and management as they affect outcome for babies with congenital heart disease. Conclusions— Fetal cardiac medicine has evolved considerably over the past 2 decades, predominantly in response to advances in imaging technology and innovations in therapies. The diagnosis of cardiac disease in the fetus is mostly made with ultrasound; however, new technologies, including 3- and 4-dimensional echocardiography, magnetic resonance imaging, and fetal electrocardiography and magnetocardiography, are available. Medical and interventional treatments for select diseases and strategies for delivery room care enable stabilization of high-risk fetuses and contribute to improved outcomes. This statement highlights what is currently known and recommended on the basis of evidence and experience in the rapidly advancing and highly specialized field of fetal cardiac care.

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Section: Incidencementioning

confidence: 99%

Diagnosis and Treatment of Fetal Cardiac Disease

Donofrio¹,

Moon-Grady²,

Hornberger³

et al. 2014

Circulation

983

543

View full text Add to dashboard Cite

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“…NIPT for aneuploidy using cell-free DNA in maternal plasma is increasingly used in clinical practice [6,7]. Several studies have reported promising results and some have also included sex chromosome aneuploidy analysis [4,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29]. Some have reported correct detection of all trisomy 21 fetuses and 98% of trisomy 18 cases, with all euploid fetuses correctly identiﬁed and a very low (1%) assay failure rate [8,10].…”

Section: Introductionmentioning

confidence: 99%

Estimation of Detection Rates of Aneuploidy in High-Risk Pregnancy Using an Approach Based on Nuchal Translucency and Non-Invasive Prenatal Testing: A Cohort Study

et al. 2015

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Objectives: The aim was to investigate aneuploidy detection using an approach based on nuchal translucency (NT) and non-invasive prenatal testing (NIPT). Methods: This was a cohort study including 5,306 high-risk pregnancies with NT measurements and chorionic villus samples (CVS) tested for full karyotype. Results: The fetal karyotype was normal in 4,172 (78.6%) cases and abnormal in 1,134 (21.4%), including 1,009 with a likely clinically significant adverse outcome. Universal CVS with full karyotyping would lead to the diagnosis of all clinically significant abnormalities. A policy of relying solely on NIPT would have led to the diagnosis of 88.9% of clinically significant abnormalities. A strategy whereby NIPT is the main method, with CVS reserved for cases with NT ≥3.0 mm, would require CVS in 21.7% of cases, identify 94.8% of significant abnormalities and avoid miscarriage in 41 pregnancies compared to CVS for all. Conclusions: A policy of NIPT for increased-risk cases and CVS with full karyotype if the NT was ≥3.0 mm reduced the risk of miscarriage yet still identified 95% of clinically significant aneuploidy.

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“…A potential issue with NIPT as a universal screening test is the failure rate in providing a result, which primarily depends on the relative proportion of fetal to maternal origin of the cfDNA in maternal plasma [8]. In trisomic pregnancies DNA derived from the extra fetal chromosome results in a higher proportion of fetal DNA than in disomic pregnancies.…”

Section: Discussionmentioning

confidence: 99%

Controversies in Pregnancy Management after Prenatal Diagnosis of a Twin Pregnancy Discordant for Trisomy 21 Diagnosed by Cell-Free Fetal DNA Testing

Cetin¹,

Schulze-Koenig²,

Doebert³

et al. 2017

SOJGOW

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BackgroundCurrent preliminary data is advocating cfDNA testing in twin pregnancies since both increasing use of ART and higher maternal ages have raised the incidence of (discordant) aneuploidies. Procedures and findingsThis report is raising ethical implications deriving from a twin pregnancy discordant for trisomy 21 conceived from egg donation and diagnosed by cfDNA testing after low risk conventional first-trimester screening.

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Diagnostic Accuracy of Noninvasive Detection of Fetal Trisomy 21 in Maternal Blood: A Systematic Review

Cited by 30 publications

References 44 publications

Diagnosis and Treatment of Fetal Cardiac Disease

Diagnosis and Treatment of Fetal Cardiac Disease

Estimation of Detection Rates of Aneuploidy in High-Risk Pregnancy Using an Approach Based on Nuchal Translucency and Non-Invasive Prenatal Testing: A Cohort Study

Controversies in Pregnancy Management after Prenatal Diagnosis of a Twin Pregnancy Discordant for Trisomy 21 Diagnosed by Cell-Free Fetal DNA Testing

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