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Updated: Mar 1, 2026
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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
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The first trimester combined test for aneuploidies - a single center experience
Alina Veduta1, Ana Maria Vayna1, Simona Duta1
1a Filantropia Clinical Hospital , Bucharest , Romania.
Summary
The first trimester combined test effectively screens for fetal aneuploidies, achieving an 87.5% detection rate for Down syndrome (trisomy 21) with a low false positive rate. This study confirms the Fetal Medicine Foundation method
Area of Science:
- Prenatal Diagnosis
- Maternal-Fetal Medicine
- Genetics
Background:
- Aneuploidies are common chromosomal abnormalities.
- Early detection of aneuploidies improves pregnancy management.
- The first trimester combined test offers a non-invasive screening option.
Purpose of the Study:
- To report the systematic application of the first trimester combined test for aneuploidies in a Romanian center.
- To evaluate the effectiveness of the Fetal Medicine Foundation (FMF) screening protocol.
Main Methods:
- Systematic application of the FMF combined first trimester test (October 2009 onwards).
- Assessment of crown-rump length (CRL), nuchal translucency, fetal heart rate, PAPP-A, and free β-hCG.
- Calculation of individual aneuploidy risk using the FMF algorithm.
Main Results:
- Screening data from 6030 euploid and 42 aneuploid fetuses.
- Detection rate for trisomy 21 was 87.5% with a 1.96% screen-positive rate.
- 100% detection for trisomy 18 and trisomy 13.
Conclusions:
- Results align with major FMF method studies.
- The study demonstrates the feasibility of first trimester aneuploidy screening.
- Limited resources impacted sample size.
