Detection of fetal chromosomal anomalies: does nuchal translucency measurement have added value in the era of non-invasive prenatal testing?

2015 ◽  
Vol 35 (7) ◽  
pp. 663-668 ◽  
Author(s):  
K. D. Lichtenbelt ◽  
B. D. M. Diemel ◽  
M. P. H. Koster ◽  
G. T. R. Manten ◽  
J. Siljee ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
Nuchal Translucency ◽  
Added Value ◽  
Chromosomal Anomalies ◽  
Non Invasive ◽  
Nuchal Translucency Measurement

Ethical Issues Relating to Prenatal Genetic Testing

2021 ◽  
Vol 66 (Special Issue) ◽  
pp. 141-141
Author(s):  
Adeline Perrot ◽  
◽  
Ruth Horn ◽  
◽  
◽  
...  
Keyword(s):  
Social Inclusion ◽  
Ethical Issues ◽  
Prenatal Testing ◽  
Chromosomal Anomalies ◽  
Reproductive Choice ◽  
Clinical Implementation ◽  
Policy Document ◽  
Non Invasive ◽  
Second Tier ◽  
Routine Antenatal Care

"Introduction: Non-invasive prenatal testing (NIPT) is a rapidly developing genomic technology that is constantly widening its scope and opening up new possibilities in reproductive medicine. Ten years after NIPT has been made commercially available, it is increasingly entering routine antenatal care as either a first- or second-tier test. In England, France and Germany, for example, NIPT has been made available free-of-charge as a second-tier test to women with a higher chance of common chromosomal anomalies. The clinical implementation of NIPT carries benefits but also raises important ethical questions. Our project analyses these questions within their specific contexts in England, France and Germany. Methods: As part of a wider research project, which will involve qualitative methods, we conducted a document analysis to compare arguments about, and regulations governing NIPT in the three countries in: law and policy document; public reports; medical press; academic literature; and media. Results: Despite the similarities between the three countries to offer NIPT as a second-tier screening tool, they exhibit differences with regard to their public discourses about prenatal genomics, screening policies, the risk-thresholds they use, professional regulations and laws. These differences have an impact on the way ethical issues emerge, and questions about the meaning of health, illness and disability, the scope of public health interventions, social inclusion and exclusion as well as reproductive choice are approached in each country. "

scholarly journals Chromosomal Microarray Analysis versus Karyotyping in Fetuses with Increased Nuchal Translucency

2019 ◽  
Vol 7 (3) ◽  
pp. 40 ◽  
Author(s):  
Rita Cicatiello ◽  
Piero Pignataro ◽  
Antonella Izzo ◽  
Nunzia Mollo ◽  
Lucia Pezone ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Chromosomal Rearrangements ◽  
Prenatal Testing ◽  
Normal Karyotype ◽  
Nuchal Translucency ◽  
Cystic Hygroma ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chromosomal Anomalies ◽  
Increased Nuchal Translucency

We have carried out a retrospective study of chromosome anomalies associated with increased nuchal translucency (NT) in order to compare yield rates of karyotype, chromosome microarray analysis (CMA), and non-invasive prenatal testing (NIPT) in this condition. Presenting with increased NT or cystic hygroma ≥3.5 mm as an isolated sign, 249 fetuses underwent karyotype and/or CMA from 11 to 18 gestational weeks. Karyotype and fluorescence in situ hybridization (FISH) analyses detected 103 chromosomal anomalies including 95 aneuploidies and eight chromosomal rearrangements or derivatives. Further, seven pathogenic copy number variants (CNV), five likely pathogenic CNVs, and 15 variants of unknown significance (VOUS) were detected by CMA in fetuses with normal karyotype. Genetic testing is now facing new challenges due to results with uncertain clinical impacts. Additional investigations will be necessary to interpret these findings. More than 15% of the anomalies that we have diagnosed with invasive techniques could not be detected by NIPT. It is therefore definitely not recommended in the case of ultrasound anomalies. These results, while corroborating the use of CMA in fetuses with increased NT as a second tier after rapid aneuploidy testing, do not suggest a dismissal of karyotype analysis.

scholarly journals First trimester screening with biochemical markers and ultrasound in relation to non-invasive prenatal testing (NIPT)

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Alexander Scharf
Keyword(s):  
Molecular Genetic ◽  
Prenatal Testing ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Molecular Genetic Analysis ◽  
Genetic Search ◽  
Non Invasive ◽  
Dose Comparison ◽  
Stage Of Development ◽  
The Matrix

Abstract Non-invasive prenatal testing (NIPT) is often erroneously received as a diagnostic procedure due to its high discriminatory power in the field of fetal trisomy 21 diagnosis (wording: “NIPT replaces amniocentesis”). Already a look at the methodology of NIPT (statistical gene dose comparison of a primarily maternofetal DNA mixture information at selected sites of the genome) easily reveals that NIPT cannot match the gold standard offered by cytogenetic and molecular genetic analysis procedures from the matrix of the entire human genome (origin: vital fetal cells), neither in diagnostic breadth nor in diagnostic depth. In fact, NIPT in fetal medicine in its current stage of development is a selective genetic search procedure, which can be applied in primary (without indication) or secondary (indication-related) screening. Thus, NIPT competes with established search procedures for this field. Here, the combined nuchal translucency (NT) test according to Nicolaides has become the worldwide standard since 2000. The strength of this procedure is its broad predictive power: NT addresses not only the area of genetics, but also the statistically 10 times more frequent structural fetal defects. Thus, NIPT and NT have large overlaps with each other in the field of classical cytogenetics, with slightly different weighting in the fine consideration. However, NIPT without a systematic accompanying ultrasound examination would mean a step back to the prenatal care level of the 1980s. In this respect, additional fine ultrasound should always be required in the professional application of NIPT. NIPT can thus complement NT in wide areas, but not completely replace it.

scholarly journals 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

2015 ◽  
Vol 38 (4) ◽  
pp. 254-261 ◽  
Author(s):  
Asma Khalil ◽  
Negar Mahmoodian ◽  
Abhijit Kulkarni ◽  
Tessa Homfray ◽  
Aris Papageorghiou ◽  
...  
Keyword(s):  
Cohort Study ◽  
High Risk ◽  
Chorionic Villus ◽  
Prenatal Testing ◽  
Nuchal Translucency ◽  
Detection Rates ◽  
Non Invasive ◽  
Risk Pregnancy ◽  
Increased Risk ◽  
Clinically Significant

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.

scholarly journals OP21.03: Efficacy of complete morphological screening for chromosomal anomalies at the time of nuchal translucency measurement

2011 ◽  
Vol 38 (S1) ◽  
pp. 116-117
Author(s):  
M. Bellotti ◽  
S. Migliaccio ◽  
E. Matarazzo ◽  
C. Bulfoni ◽  
G. C. Rognoni ◽  
...  
Keyword(s):  
Nuchal Translucency ◽  
Chromosomal Anomalies ◽  
Nuchal Translucency Measurement
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