Significant Correlation Between Maternal Body Mass Index at Delivery and in the Second Trimester, and Second Trimester Circulating Total Cell-free DNA Levels

Lapaire, Olav; Volgmann, Thorsten; Grill, Simon; Hösli, Irène; Zanetti-Daellenbach, Rosanna; Zhong, Xiao Yan; Holzgreve, Wolfgang

doi:10.1177/1933719108327599

Cited by 27 publications

(43 citation statements)

References 27 publications

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“…Our results are similar to a previous study by Lapaire et al 2 , in which a correlation was found between maternal BMI and total, but not fetal, second trimester cf DNA levels. There are several differences between our study and the Lapaire study, however.…”

supporting

confidence: 92%

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A multifactorial relationship exists between total circulating cell‐free DNA levels and maternal BMI

et al. 2012

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supporting

confidence: 92%

“…Maternal obesity is associated with increased circulating total, but not fetal, cf DNA 2 . This may be a result of increased production or decreased clearance of cf DNA in obese women.…”

mentioning

confidence: 93%

A multifactorial relationship exists between total circulating cell‐free DNA levels and maternal BMI

et al. 2012

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“…After correction for GA, there was no association between cfp-DNA levels and interrogated maternal (ethnicity, BMI, age at delivery) or fetal (sex, weight SD at birth) parameters. Association with BMI was not significant, consistent with Lapaire et al [28] , although after excluding two cases with BMI >30, the correlation between cfp-DNA and BMI (R = -0.27, p = 0.07), as well as total cell-free DNA and BMI (R = -0.075, p = 0.62) showed a nonsignificant negative trend, similar to that reported for the total cell-free DNA and BMI in a 'lean population' in a study by Vora et al [29] .…”

Section: Discussionsupporting

confidence: 87%

Cell-Free Placental DNA in Maternal Plasma in Relation to Placental Health and Function

Manokhina

Singh²,

Robinson³

2016

Fetal Diagn Ther

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Background: While cell-free placental DNA (cfp-DNA) increases in response to certain pathological conditions, confounding variables, such as placental size, may also contribute to its release. Furthermore, the relationship between cfp-DNA and maternal serum proteins has not been well investigated. Objective: To analyze plasma cfp-DNA levels and correlate with measurable placental parameters, maternal serum proteins, or pathologic conditions reflecting placental dysfunction. Method: Methylated fraction of RASSF1A was quantified in maternal plasma as a measure of cfp-DNA in a cohort of 86 pregnant women. Results: Placental dimensions or weight had no impact on cfp-DNA levels in noncomplicated pregnancies (n = 63). However, an association between β-hCG and cfp-DNA levels (p = 0.0012) was detected. Complications occurred in 23 pregnancies including chromosomal abnormalities, gestational hypertension, intrauterine growth restriction, and preterm birth. There was overall a skewed distribution (<-1 SD or >1 SD from mean) for cfp-DNA in the abnormal group, although due to the small number of samples for each pathology, we provide only descriptive data to assess possible trends in cfp-DNA variation. Conclusion: While cfp-DNA levels outside of the normal range may reflect placental distress, this relationship may be masked by a number of physiological confounders. The independence of cfp-DNA from β-hCG levels commonly assessed in pregnancy need to be further addressed.

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“…In addition, remodeling of adipose tissue in obese pregnant women is associated with a 2-fold increase in GAPDH (a marker of total DNA) in serum (27). Total circulating cell-free DNA is proportionately increased in pregnant women as a function of BMI (34, 35). The fetal DNA is unaffected, but the increased maternal DNA results in an overall lower ff .…”

Section: Nipt For Autosomal Aneuploidymentioning

confidence: 99%

Integration of Noninvasive DNA Testing for Aneuploidy into Prenatal Care: What Has Happened Since the Rubber Met the Road?

2014

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BACKGROUND Over the past 2 years, noninvasive prenatal testing (NIPT), which uses massively parallel sequencing to align and count DNA fragments floating in the plasma of pregnant women, has become integrated into prenatal care. Professional societies currently recommend offering NIPT as an advanced screen to pregnant women at high risk for fetal aneuploidy, reserving invasive diagnostic procedures for those at the very highest risk. CONTENT In this review, we summarize the available information on autosomal and sex chromosome aneuploidy detection. Clinical performance in CLIA-certified, College of American Pathology–accredited laboratories appears to be equivalent to prior clinical validation studies, with high sensitivities and specificities and very high negative predictive values. The main impact on clinical care has been a reduction in invasive procedures. Test accuracy is affected by the fetal fraction, the percentage of fetal DNA in the total amount of circulating cell-free DNA. Fetal fraction is in turn affected by maternal body mass index, gestational age, type of aneuploidy, singleton vs multiples, and mosaicism. Three studies comparing NIPT to serum or combined screening for autosomal aneuploidy all show that NIPT has significantly lower false-positive rates (approximately 0.1%), even in all-risk populations. A significant number of the discordant positive cases have underlying biological reasons, including confined placental mosaicism, maternal mosaicism, cotwin demise, or maternal malignancy. SUMMARY NIPT performs well as an advanced screen for whole chromosome aneuploidy. Economic considerations will likely dictate whether its use can be expanded to all risk populations and whether it can be applied routinely for the detection of subchromosome abnormalities.

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Significant Correlation Between Maternal Body Mass Index at Delivery and in the Second Trimester, and Second Trimester Circulating Total Cell-free DNA Levels

Abstract: Quantitative levels of cell-free fetal DNA are not affected by maternal BMI, whereas total DNA levels in the second trimester significantly correlate with maternal BMI at the moment of blood drawing and at delivery.

Cited by 27 publications

References 27 publications

A multifactorial relationship exists between total circulating cell‐free DNA levels and maternal BMI

A multifactorial relationship exists between total circulating cell‐free DNA levels and maternal BMI

Cell-Free Placental DNA in Maternal Plasma in Relation to Placental Health and Function

Integration of Noninvasive DNA Testing for Aneuploidy into Prenatal Care: What Has Happened Since the Rubber Met the Road?

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