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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.

AbstractOBJECTIVES:
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.
AuthorsAsma Khalil, Negar Mahmoodian, Abhijit Kulkarni, Tessa Homfray, Aris Papageorghiou, Amar Bhide, Basky Thilaganathan
JournalFetal diagnosis and therapy (Fetal Diagn Ther) Vol. 38 Issue 4 Pg. 254-61 ( 2015) ISSN: 1421-9964 [Electronic] Switzerland
PMID25925597 (Publication Type: Evaluation Study, Journal Article)
Copyright© 2015 S. Karger AG, Basel.
Topics
  • Aneuploidy
  • Chorionic Villi Sampling
  • Chromosome Disorders (diagnosis)
  • Female
  • Humans
  • Karyotyping
  • Nuchal Translucency Measurement
  • Pregnancy
  • Pregnancy Outcome
  • Pregnancy, High-Risk
  • Prenatal Diagnosis (methods)
  • Retrospective Studies
  • Risk Assessment

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