Presence of fetal DNA in maternal plasma decades after pregnancy

Pietro Invernizzi, Maria Luisa Biondi, Pier Maria Battezzati, Francesca Perego, Carlo Selmi, Federica Cecchini, Mauro Podda, Giuseppe Simoni

Research output: Contribution to journalArticle

59 Citations (Scopus)

Abstract

Cells of fetal origin and cell-free fetal DNA can be detected in the maternal circulation during pregnancy, and it has recently been shown that fetal cells can persist long after delivery. Given the various biological and clinical implications of this fact, we tested the hypothesis that cell-free fetal DNA can be present in maternal plasma decades after pregnancy. We extracted DNA from plasma samples and nucleated blood cells of 160 healthy women with male offspring at different time intervals after delivery (range 1-60 years). All of the samples were tested by means of a real-time quantitative PCR assay for a specific Y chromosome sequence (the SRY gene). Y chromosome-specific DNA was detected in 16 peripheral blood cell samples (10%) and 35 plasma samples (22%). The women with male sequences in the cell fraction had significantly greater total parity (P=0.018). The proportion of women with detectable Y sequences in the plasma or cell samples was not related to the time since delivery. The fetal DNA concentrations in the genomic material extracted from plasma samples were significantly higher than those extracted from the Y-positive cell samples (149±140 vs 20±13 genome-equivalents/ml; P<0.001). There was no relationship between the concentration of fetal DNA and the time since delivery. Not only fetal cells, but also fragments of fetal DNA can be present in the maternal circulation indefinitely after pregnancy. This findings has practical implications for non-invasive prenatal diagnoses based on maternal blood, and may be considered for possible pathophysiological correlation.

Original languageEnglish (US)
Pages (from-to)587-591
Number of pages5
JournalHuman Genetics
Volume110
Issue number6
DOIs
StatePublished - Jun 2002
Externally publishedYes

Fingerprint

Mothers
Pregnancy
DNA
Y Chromosome
Blood Cells
Plasma Cells
Parity
Prenatal Diagnosis
Real-Time Polymerase Chain Reaction
Genome
Genes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Invernizzi, P., Biondi, M. L., Battezzati, P. M., Perego, F., Selmi, C., Cecchini, F., ... Simoni, G. (2002). Presence of fetal DNA in maternal plasma decades after pregnancy. Human Genetics, 110(6), 587-591. https://doi.org/10.1007/s00439-002-0725-3

Presence of fetal DNA in maternal plasma decades after pregnancy. / Invernizzi, Pietro; Biondi, Maria Luisa; Battezzati, Pier Maria; Perego, Francesca; Selmi, Carlo; Cecchini, Federica; Podda, Mauro; Simoni, Giuseppe.

In: Human Genetics, Vol. 110, No. 6, 06.2002, p. 587-591.

Research output: Contribution to journalArticle

Invernizzi, P, Biondi, ML, Battezzati, PM, Perego, F, Selmi, C, Cecchini, F, Podda, M & Simoni, G 2002, 'Presence of fetal DNA in maternal plasma decades after pregnancy', Human Genetics, vol. 110, no. 6, pp. 587-591. https://doi.org/10.1007/s00439-002-0725-3
Invernizzi P, Biondi ML, Battezzati PM, Perego F, Selmi C, Cecchini F et al. Presence of fetal DNA in maternal plasma decades after pregnancy. Human Genetics. 2002 Jun;110(6):587-591. https://doi.org/10.1007/s00439-002-0725-3
Invernizzi, Pietro ; Biondi, Maria Luisa ; Battezzati, Pier Maria ; Perego, Francesca ; Selmi, Carlo ; Cecchini, Federica ; Podda, Mauro ; Simoni, Giuseppe. / Presence of fetal DNA in maternal plasma decades after pregnancy. In: Human Genetics. 2002 ; Vol. 110, No. 6. pp. 587-591.
@article{ce963d94b9b74004a8c29690e3fb0cc2,
title = "Presence of fetal DNA in maternal plasma decades after pregnancy",
abstract = "Cells of fetal origin and cell-free fetal DNA can be detected in the maternal circulation during pregnancy, and it has recently been shown that fetal cells can persist long after delivery. Given the various biological and clinical implications of this fact, we tested the hypothesis that cell-free fetal DNA can be present in maternal plasma decades after pregnancy. We extracted DNA from plasma samples and nucleated blood cells of 160 healthy women with male offspring at different time intervals after delivery (range 1-60 years). All of the samples were tested by means of a real-time quantitative PCR assay for a specific Y chromosome sequence (the SRY gene). Y chromosome-specific DNA was detected in 16 peripheral blood cell samples (10{\%}) and 35 plasma samples (22{\%}). The women with male sequences in the cell fraction had significantly greater total parity (P=0.018). The proportion of women with detectable Y sequences in the plasma or cell samples was not related to the time since delivery. The fetal DNA concentrations in the genomic material extracted from plasma samples were significantly higher than those extracted from the Y-positive cell samples (149±140 vs 20±13 genome-equivalents/ml; P<0.001). There was no relationship between the concentration of fetal DNA and the time since delivery. Not only fetal cells, but also fragments of fetal DNA can be present in the maternal circulation indefinitely after pregnancy. This findings has practical implications for non-invasive prenatal diagnoses based on maternal blood, and may be considered for possible pathophysiological correlation.",
author = "Pietro Invernizzi and Biondi, {Maria Luisa} and Battezzati, {Pier Maria} and Francesca Perego and Carlo Selmi and Federica Cecchini and Mauro Podda and Giuseppe Simoni",
year = "2002",
month = "6",
doi = "10.1007/s00439-002-0725-3",
language = "English (US)",
volume = "110",
pages = "587--591",
journal = "Human Genetics",
issn = "0340-6717",
publisher = "Springer Verlag",
number = "6",

}

TY - JOUR

T1 - Presence of fetal DNA in maternal plasma decades after pregnancy

AU - Invernizzi, Pietro

AU - Biondi, Maria Luisa

AU - Battezzati, Pier Maria

AU - Perego, Francesca

AU - Selmi, Carlo

AU - Cecchini, Federica

AU - Podda, Mauro

AU - Simoni, Giuseppe

PY - 2002/6

Y1 - 2002/6

N2 - Cells of fetal origin and cell-free fetal DNA can be detected in the maternal circulation during pregnancy, and it has recently been shown that fetal cells can persist long after delivery. Given the various biological and clinical implications of this fact, we tested the hypothesis that cell-free fetal DNA can be present in maternal plasma decades after pregnancy. We extracted DNA from plasma samples and nucleated blood cells of 160 healthy women with male offspring at different time intervals after delivery (range 1-60 years). All of the samples were tested by means of a real-time quantitative PCR assay for a specific Y chromosome sequence (the SRY gene). Y chromosome-specific DNA was detected in 16 peripheral blood cell samples (10%) and 35 plasma samples (22%). The women with male sequences in the cell fraction had significantly greater total parity (P=0.018). The proportion of women with detectable Y sequences in the plasma or cell samples was not related to the time since delivery. The fetal DNA concentrations in the genomic material extracted from plasma samples were significantly higher than those extracted from the Y-positive cell samples (149±140 vs 20±13 genome-equivalents/ml; P<0.001). There was no relationship between the concentration of fetal DNA and the time since delivery. Not only fetal cells, but also fragments of fetal DNA can be present in the maternal circulation indefinitely after pregnancy. This findings has practical implications for non-invasive prenatal diagnoses based on maternal blood, and may be considered for possible pathophysiological correlation.

AB - Cells of fetal origin and cell-free fetal DNA can be detected in the maternal circulation during pregnancy, and it has recently been shown that fetal cells can persist long after delivery. Given the various biological and clinical implications of this fact, we tested the hypothesis that cell-free fetal DNA can be present in maternal plasma decades after pregnancy. We extracted DNA from plasma samples and nucleated blood cells of 160 healthy women with male offspring at different time intervals after delivery (range 1-60 years). All of the samples were tested by means of a real-time quantitative PCR assay for a specific Y chromosome sequence (the SRY gene). Y chromosome-specific DNA was detected in 16 peripheral blood cell samples (10%) and 35 plasma samples (22%). The women with male sequences in the cell fraction had significantly greater total parity (P=0.018). The proportion of women with detectable Y sequences in the plasma or cell samples was not related to the time since delivery. The fetal DNA concentrations in the genomic material extracted from plasma samples were significantly higher than those extracted from the Y-positive cell samples (149±140 vs 20±13 genome-equivalents/ml; P<0.001). There was no relationship between the concentration of fetal DNA and the time since delivery. Not only fetal cells, but also fragments of fetal DNA can be present in the maternal circulation indefinitely after pregnancy. This findings has practical implications for non-invasive prenatal diagnoses based on maternal blood, and may be considered for possible pathophysiological correlation.

UR - http://www.scopus.com/inward/record.url?scp=0036626528&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0036626528&partnerID=8YFLogxK

U2 - 10.1007/s00439-002-0725-3

DO - 10.1007/s00439-002-0725-3

M3 - Article

VL - 110

SP - 587

EP - 591

JO - Human Genetics

JF - Human Genetics

SN - 0340-6717

IS - 6

ER -