Fetal fraction in maternal plasma cell‐free DNA at 11–13 weeks' gestation: relation to maternal and fetal characteristics

@article{Ashoor2013FetalFI,
  title={Fetal fraction in maternal plasma cell‐free DNA at 11–13 weeks' gestation: relation to maternal and fetal characteristics},
  author={Ghalia Ashoor and Argyro Syngelaki and L. C. Poon and J C Rezende and Kypros H. Nicolaides},
  journal={Ultrasound in Obstetrics \& Gynecology},
  year={2013},
  volume={41}
}
OBJECTIVE To examine the possible effects of maternal and fetal characteristics on the fetal fraction in maternal plasma cell-free (cf) DNA at 11-13 weeks' gestation and estimate the proportion of pregnancies at high risk of non-invasive prenatal testing (NIPT) failure because the fetal fraction is less than 4%. [] Key MethodMETHODS In 1949 singleton pregnancies at 11-13 weeks' gestation cf-DNA was extracted from maternal plasma.
Association between low fetal fraction in cell‐free DNA testing and adverse pregnancy outcome: A systematic review
TLDR
Low fetal fraction in prenatal cfDNA testing was observed to be associated with hypertensive disease of pregnancy, small for gestational age neonates, and preterm birth.
Association between fetal fraction on cell‐free DNA testing and first‐trimester markers for pre‐eclampsia
To evaluate the association between fetal fraction on cell‐free DNA (cfDNA) testing and first‐trimester markers for pre‐eclampsia, and to investigate the possible association of low fetal fraction
The cell‐free fetal DNA fraction in maternal blood decreases after physical activity
TLDR
This study's objective is to determine whether physical activity has an effect on the proportion of cell‐free DNA arising from the fetus (fetal fraction), which is essential for noninvasive prenatal testing using next generation sequencing.
Low fetal fraction in cell‐free DNA testing is associated with adverse pregnancy outcome: Analysis of a subcohort of the TRIDENT‐2 study
TLDR
To assess the association between low fetal fraction in prenatal cell‐free DNA testing and adverse pregnancy outcomes, fDNA testing is used as a surrogate for Fertilisation and Embryology in Pregnant Women.
Maternal Plasma Cell-Free Fetal and Maternal DNA at 11-13 Weeks' Gestation: Relation to Fetal and Maternal Characteristics and Pregnancy Outcomes
TLDR
The fetal and maternal cfDNA level in maternal plasma is affected by maternal and fetal characteristics, but it is not altered in pregnancies complicated by PE, SPB or SGA.
Absolute first trimester cell‐free DNA levels and their associations with adverse pregnancy outcomes
TLDR
To study associations of first trimester cell‐free fetal DNA levels and preeclampsia, pregnancy‐induced hypertension, Gestational diabetes, gestational diabetes and spontaneous preterm birth, cell-free placental DNA levels are referred to ascfpDNA levels.
Factors affecting levels of circulating cell‐free fetal DNA in maternal plasma and their implications for noninvasive prenatal testing
Sufficient fetal DNA in a maternal plasma sample is required for accurate aneuploidy detection via noninvasive prenatal testing, thus highlighting a need to understand the factors affecting fetal
Effects of Maternal and Fetal Characteristics on Cell-Free Fetal DNA Fraction in Maternal Plasma
TLDR
The fetal fraction was affected by fetal aneuploidy, maternal BMI, and the number of gestation, and maternal preexisting of hypertension appeared to reduce fetal fraction.
Enrichment of fetal and maternal long cell‐free DNA fragments from maternal plasma following DNA repair
TLDR
Cell‐free DNA fragments in maternal plasma contain DNA damage and may negatively impact the sensitivity of noninvasive prenatal testing (NIPT), but some of these DNA damages are potentially reparable and recovered using PreCR DNA repair mix.
Factors affecting cell-free DNA fetal fraction: statistical analysis of 13,661 maternal plasmas for non-invasive prenatal screening
TLDR
The percentage of fetal fraction significantly increased with increase of gestational age and decreased with increasing maternal BMI, and maternal age was also negatively related to the fetal fraction.
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References

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Fetal Fraction in Maternal Plasma Cell-Free DNA at 11–13 Weeks’ Gestation: Effect of Maternal and Fetal Factors
TLDR
The fetal fraction in maternal plasma cfDNA increases with serum PAPP-A and free β-hCG and decreases with maternal weight, but not by other maternal characteristics, fetal karyotype, crown-rump length or nuchal translucency thickness.
Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy
To develop a novel prenatal assay based on selective analysis of cell‐free DNA in maternal blood for evaluation of fetal Trisomy 21 (T21) and Trisomy 18 (T18).
First‐trimester screening for trisomy 21 by free beta‐human chorionic gonadotropin and pregnancy‐associated plasma protein‐A: impact of maternal and pregnancy characteristics
To use multiple regression analysis to define the contribution of maternal variables that influence the measured concentration of free beta‐human chorionic gonadotropin (β‐hCG) and
Maternal Serum Placental Growth Factor in Prospective Screening for Aneuploidies at 8–13 Weeks’ Gestation
TLDR
Inclusion of serum PLGF improves the performance of the first-trimester combined test in screening for trisomy-21, and reduces the false positive rate and increases the detection rate.
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TLDR
In normal pregnancies at 11–13 weeks, serum AFP increases with gestational age and is affected by maternal race, weight, smoking status and method of conception.
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TLDR
To examine the performance of the 11–13 weeks scan in detecting non‐chromosomal abnormalities, a large number of patients with high‐risk pregnancies are fitted with a positron emission tomography machine.
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TLDR
Improvement in the performance of first‐trimester screening can be achieved by firstly, inclusion in the ultrasound examination assessment of the nasal bone and flow in the ductus venosus, hepatic artery and across the tricuspid valve, and secondly, carrying out the biochemical test at 9 to 10 weeks and the ultrasound scan at 12 weeks.
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TLDR
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