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2.1 Estimation of detection rates of aneuploidy using an approach based on nuchal translucency and non-invasive prenatal testing (NIPT).
MedLine Citation:
PMID:  25020914     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
OBJECTIVES: To investigate the detection rates of aneuploidy using nuchal translucency (NT) and non-invasive prenatal testing (NIPT).
METHODS: A retrospective cohort study including 5306 pregnancies that underwent chorionic villus sampling (CVS) for full karyotyping after fetal NT measurement at 11+0-13+6 weeks of gestation. All abnormal karyotypes were reviewed by a clinical geneticist and grouped according to whether the chromosome anomaly would be detectable by NIPT and whether it might be clinically significant.
RESULTS: The fetal karyotype was normal in 4172 (78.6%) and abnormal in 1134 (21.4%), including 1009 likely to result in clinically significant adverse outcome. Universal CVS with full karyotyping would lead to the diagnosis of all clinically significant abnormalities. A policy of NIPT only in all of these cases would have led to the diagnosis of 88.9% of clinically significant abnormalities. A strategy whereby NIPT is the main method of analysis for increased combined screening risk, with invasive testing reserved for those with NT thickness ≥3.0 mm, would require CVS in 20.1%, identify 94.8% of significant abnormalities and avoid miscarriage in 42 (79.2%) pregnancies compared to CVS for all. With a current UK price for NIPT of £400 and the need to confirm abnormal results by CVS, the cost of the three policies would be £2.0 m, £2.5 m and £2.2 m, respectively.
CONCLUSIONS: A policy of NIPT for increased first trimester aneuploidy risk and CVS with full karyotype only for fetal NT thickness ≥3.0 mm would reduce the risk of procedure-related miscarriage five-fold, yet identify 95% of clinically significant chromosomal abnormalities.
Authors:
A Khalil; N Mahmoodian; A Kulkarni; T Homfray; A Papageorghiou; A Bhide; B Thilaganathan
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Archives of disease in childhood. Fetal and neonatal edition     Volume:  99 Suppl 1     ISSN:  1468-2052     ISO Abbreviation:  Arch. Dis. Child. Fetal Neonatal Ed.     Publication Date:  2014 Jun 
Date Detail:
Created Date:  2014-07-15     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9501297     Medline TA:  Arch Dis Child Fetal Neonatal Ed     Country:  England    
Other Details:
Languages:  eng     Pagination:  A1     Citation Subset:  AIM; IM    
Copyright Information:
© 2014, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.
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