Abstract | 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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Authors | Asma Khalil, Negar Mahmoodian, Abhijit Kulkarni, Tessa Homfray, Aris Papageorghiou, Amar Bhide, Basky Thilaganathan |
Journal | Fetal diagnosis and therapy
(Fetal Diagn Ther)
Vol. 38
Issue 4
Pg. 254-61
( 2015)
ISSN: 1421-9964 [Electronic] Switzerland |
PMID | 25925597
(Publication Type: Evaluation Study, Journal Article)
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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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