Abstract
The presence of fetal DNA in maternal plasma may represent a source of genetic material which can be obtained noninvasively. We wanted to assess whether fetal DNA is detectable in all pregnant women, to define the range and distribution of fetal DNA concentration at different gestational ages, to identify the optimal period to obtain a maternal blood sample yielding an adequate amount of fetal DNA for prenatal diagnosis, and to evaluate accuracy and predictive values of this approach. This information is crucial to develop safe and reliable non-invasive genetic testing in early pregnancy and monitoring of pregnancy complications in late gestation. Fetal DNA quantification in maternal plasma was carried out by real-time PCR on the SRY gene in male-bearing pregnancies to distinguish between maternal and fetal DNA. A cohort of 1,837 pregnant women was investigated. Fetal DNA could be detected from the sixth week and could be retrieved at any gestational week. No false-positive results were obtained in 163 women with previous embryo loss or previous male babies. Fetal DNA analysis performed blindly on a subset of 464 women displayed 99.4, 97.8 and 100% accuracy in fetal gender determination during the first, second, and third trimester of pregnancy, respectively. No SRY amplification was obtained in seven out of the 246 (2.8%) male-bearing pregnancies. Fetal DNA from maternal plasma seems to be an adequate and reliable source of genetic material for a noninvasive prenatal diagnostic approach.
| Original language | English |
|---|---|
| Pages (from-to) | 243-248 |
| Number of pages | 6 |
| Journal | Human Genetics |
| Volume | 117 |
| Issue number | 2-3 |
| DOIs | |
| Publication status | Published - Jul 2005 |
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ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Fetal DNA detection in maternal plasma throughout gestation. / Galbiati, Silvia; Smid, Maddalena; Gambini, Dania; Ferrari, Augusto; Restagno, Gabriella; Viora, Elsa; Campogrande, Mario; Bastonero, Simona; Pagliano, Marco; Calza, Stefano; Ferrari, Maurizio; Cremonesi, Laura.
In: Human Genetics, Vol. 117, No. 2-3, 07.2005, p. 243-248.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Fetal DNA detection in maternal plasma throughout gestation
AU - Galbiati, Silvia
AU - Smid, Maddalena
AU - Gambini, Dania
AU - Ferrari, Augusto
AU - Restagno, Gabriella
AU - Viora, Elsa
AU - Campogrande, Mario
AU - Bastonero, Simona
AU - Pagliano, Marco
AU - Calza, Stefano
AU - Ferrari, Maurizio
AU - Cremonesi, Laura
PY - 2005/7
Y1 - 2005/7
N2 - The presence of fetal DNA in maternal plasma may represent a source of genetic material which can be obtained noninvasively. We wanted to assess whether fetal DNA is detectable in all pregnant women, to define the range and distribution of fetal DNA concentration at different gestational ages, to identify the optimal period to obtain a maternal blood sample yielding an adequate amount of fetal DNA for prenatal diagnosis, and to evaluate accuracy and predictive values of this approach. This information is crucial to develop safe and reliable non-invasive genetic testing in early pregnancy and monitoring of pregnancy complications in late gestation. Fetal DNA quantification in maternal plasma was carried out by real-time PCR on the SRY gene in male-bearing pregnancies to distinguish between maternal and fetal DNA. A cohort of 1,837 pregnant women was investigated. Fetal DNA could be detected from the sixth week and could be retrieved at any gestational week. No false-positive results were obtained in 163 women with previous embryo loss or previous male babies. Fetal DNA analysis performed blindly on a subset of 464 women displayed 99.4, 97.8 and 100% accuracy in fetal gender determination during the first, second, and third trimester of pregnancy, respectively. No SRY amplification was obtained in seven out of the 246 (2.8%) male-bearing pregnancies. Fetal DNA from maternal plasma seems to be an adequate and reliable source of genetic material for a noninvasive prenatal diagnostic approach.
AB - The presence of fetal DNA in maternal plasma may represent a source of genetic material which can be obtained noninvasively. We wanted to assess whether fetal DNA is detectable in all pregnant women, to define the range and distribution of fetal DNA concentration at different gestational ages, to identify the optimal period to obtain a maternal blood sample yielding an adequate amount of fetal DNA for prenatal diagnosis, and to evaluate accuracy and predictive values of this approach. This information is crucial to develop safe and reliable non-invasive genetic testing in early pregnancy and monitoring of pregnancy complications in late gestation. Fetal DNA quantification in maternal plasma was carried out by real-time PCR on the SRY gene in male-bearing pregnancies to distinguish between maternal and fetal DNA. A cohort of 1,837 pregnant women was investigated. Fetal DNA could be detected from the sixth week and could be retrieved at any gestational week. No false-positive results were obtained in 163 women with previous embryo loss or previous male babies. Fetal DNA analysis performed blindly on a subset of 464 women displayed 99.4, 97.8 and 100% accuracy in fetal gender determination during the first, second, and third trimester of pregnancy, respectively. No SRY amplification was obtained in seven out of the 246 (2.8%) male-bearing pregnancies. Fetal DNA from maternal plasma seems to be an adequate and reliable source of genetic material for a noninvasive prenatal diagnostic approach.
UR - http://www.scopus.com/inward/record.url?scp=25144486149&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=25144486149&partnerID=8YFLogxK
U2 - 10.1007/s00439-005-1330-z
DO - 10.1007/s00439-005-1330-z
M3 - Article
C2 - 15906093
AN - SCOPUS:25144486149
VL - 117
SP - 243
EP - 248
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 2-3
ER -