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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.
- Source :
-
Fetal Diagnosis & Therapy . Dec2015, Vol. 38 Issue 4, p254-261. 8p. - Publication Year :
- 2015
-
Abstract
- <bold>Objectives: </bold>The aim was to investigate aneuploidy detection using an approach based on nuchal translucency (NT) and non-invasive prenatal testing (NIPT).<bold>Methods: </bold>This was a cohort study including 5,306 high-risk pregnancies with NT measurements and chorionic villus samples (CVS) tested for full karyotype.<bold>Results: </bold>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.<bold>Conclusions: </bold>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. [ABSTRACT FROM AUTHOR]
- Subjects :
- *ANEUPLOIDY
*HIGH-risk pregnancy
*ULTRASONIC imaging
*PRENATAL diagnosis
*COHORT analysis
*CHORIONIC villus sampling
*KARYOTYPES
*CHROMOSOME abnormalities
*COMPARATIVE studies
*FETAL ultrasonic imaging
*RESEARCH methodology
*EVALUATION of medical care
*MEDICAL cooperation
*PREGNANCY
*RESEARCH
*RISK assessment
*EVALUATION research
*RETROSPECTIVE studies
*DIAGNOSIS
Subjects
Details
- Language :
- English
- ISSN :
- 10153837
- Volume :
- 38
- Issue :
- 4
- Database :
- Academic Search Index
- Journal :
- Fetal Diagnosis & Therapy
- Publication Type :
- Academic Journal
- Accession number :
- 111790307
- Full Text :
- https://doi.org/10.1159/000381182