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Cell-Free Fetal DNA in the Early and Late First Trimester

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@article{d502469d2ba944dcb4aecd363a2cdf16,
title = "Cell-Free Fetal DNA in the Early and Late First Trimester",
abstract = "OBJECTIVE: The aim of this work was to investigate the association between maternal and fetal characteristics and the fetal fraction at 8-14 weeks' gestation, with emphasis on the change in the fetal fraction upon repeat sampling.METHOD: One sample for cell-free DNA (cfDNA) testing was collected at the same time as the biochemical markers for combined first trimester screening (visit 1) and another at the nuchal translucency scan (visit 2). Chromosome-selective cfDNA analysis was performed on frozen plasma.RESULTS: Overall, 321 women were included at visit 1, and 307 had a repeat blood sampling. A fetal fraction was obtained in 532 samples (238 samples with repeat fetal fraction). The fetal fraction decreased with maternal BMI (p < 0.001), was lower in Asian women (p = 0.03), and increased with β-hCG levels (p < 0.001) and gestational age (p = 0.04). Before 10 weeks' gestation, the fetal fraction was lower (p = 0.02), as was the probability of a sufficient fetal fraction (p = 0.03) after adjustment for maternal BMI. Asian women had a higher increase in fetal fraction upon repeat sampling (p < 0.001).CONCLUSION: Before 10 weeks' gestation, the fetal fraction is significantly lower but seems to increase more rapidly compared to later gestations. Presently, combined first trimester screening with cfDNA testing should not include samples before 10 weeks' gestation.",
author = "Miltoft, {Caroline Borregaard} and Line Rode and Bundgaard, {Jens Ren{\'e}} and Peter Johansen and Ann Tabor",
note = "{\circledC} 2019 S. Karger AG, Basel.",
year = "2020",
doi = "10.1159/000502179",
language = "English",
volume = "47",
pages = "228--236",
journal = "Fetal Diagnosis and Therapy",
issn = "1015-3837",
publisher = "S./Karger AG",

}

RIS

TY - JOUR

T1 - Cell-Free Fetal DNA in the Early and Late First Trimester

AU - Miltoft, Caroline Borregaard

AU - Rode, Line

AU - Bundgaard, Jens René

AU - Johansen, Peter

AU - Tabor, Ann

N1 - © 2019 S. Karger AG, Basel.

PY - 2020

Y1 - 2020

N2 - OBJECTIVE: The aim of this work was to investigate the association between maternal and fetal characteristics and the fetal fraction at 8-14 weeks' gestation, with emphasis on the change in the fetal fraction upon repeat sampling.METHOD: One sample for cell-free DNA (cfDNA) testing was collected at the same time as the biochemical markers for combined first trimester screening (visit 1) and another at the nuchal translucency scan (visit 2). Chromosome-selective cfDNA analysis was performed on frozen plasma.RESULTS: Overall, 321 women were included at visit 1, and 307 had a repeat blood sampling. A fetal fraction was obtained in 532 samples (238 samples with repeat fetal fraction). The fetal fraction decreased with maternal BMI (p < 0.001), was lower in Asian women (p = 0.03), and increased with β-hCG levels (p < 0.001) and gestational age (p = 0.04). Before 10 weeks' gestation, the fetal fraction was lower (p = 0.02), as was the probability of a sufficient fetal fraction (p = 0.03) after adjustment for maternal BMI. Asian women had a higher increase in fetal fraction upon repeat sampling (p < 0.001).CONCLUSION: Before 10 weeks' gestation, the fetal fraction is significantly lower but seems to increase more rapidly compared to later gestations. Presently, combined first trimester screening with cfDNA testing should not include samples before 10 weeks' gestation.

AB - OBJECTIVE: The aim of this work was to investigate the association between maternal and fetal characteristics and the fetal fraction at 8-14 weeks' gestation, with emphasis on the change in the fetal fraction upon repeat sampling.METHOD: One sample for cell-free DNA (cfDNA) testing was collected at the same time as the biochemical markers for combined first trimester screening (visit 1) and another at the nuchal translucency scan (visit 2). Chromosome-selective cfDNA analysis was performed on frozen plasma.RESULTS: Overall, 321 women were included at visit 1, and 307 had a repeat blood sampling. A fetal fraction was obtained in 532 samples (238 samples with repeat fetal fraction). The fetal fraction decreased with maternal BMI (p < 0.001), was lower in Asian women (p = 0.03), and increased with β-hCG levels (p < 0.001) and gestational age (p = 0.04). Before 10 weeks' gestation, the fetal fraction was lower (p = 0.02), as was the probability of a sufficient fetal fraction (p = 0.03) after adjustment for maternal BMI. Asian women had a higher increase in fetal fraction upon repeat sampling (p < 0.001).CONCLUSION: Before 10 weeks' gestation, the fetal fraction is significantly lower but seems to increase more rapidly compared to later gestations. Presently, combined first trimester screening with cfDNA testing should not include samples before 10 weeks' gestation.

U2 - 10.1159/000502179

DO - 10.1159/000502179

M3 - Journal article

VL - 47

SP - 228

EP - 236

JO - Fetal Diagnosis and Therapy

JF - Fetal Diagnosis and Therapy

SN - 1015-3837

ER -

ID: 58968029