Abstract
BACKGROUND: The knowledge of the individual genetic "status" in the prenatal era is particularly relevant in the case of positive family history for genetic diseases, in advanced maternal age and in the general screening for foetal abnormalities. In this context, here, we report an innovative molecular assay which utilizes the cell-free foetal DNA (cffDNA) as a source for the early and fast detection of the foetal sex. The study involved 132 pregnant women in their first 3 months of pregnancy, who agreed to give a blood sample. All the collected samples were immediately subjected to the separation of the plasma, which was utilized for the extraction of the cffDNA. Successively, the extracted cffDNA was analysed by a quantitative PCR (qPCR) method based on Plexor-HY chemistry, which is able to simultaneously identify, quantify and discriminate the autosomal DNA from the sex-linked DNA.
RESULTS: Overall, the Plexor-HY assay demonstrated to be sensitive and specific for the determination of low-template DNA, such as the cffDNA. In fact, the Plexor-HY assay has been successfully performed in all the samples, identifying 70 males and 62 females. As the foetal sex can be provided in 120 min just by utilizing a maternal blood sample as cffDNA source, the assay represents a very fast, safe and non-invasive prenatal method.
CONCLUSIONS: The possibility of determining the foetal sex in the early prenatal life consents the application of our assay as a helpful screening test for subjects and families at risk of sex-linked disorders. Moreover, the early knowledge of the foetal sex may be of great help even for the specialist, who might promptly advise the patients concerning the foetal risk of inheriting sex-linked disorders and the clinical utility of performing an invasive prenatal diagnosis.
| Original language | English |
|---|---|
| Pages (from-to) | 9 |
| Journal | Human Genomics |
| Volume | 10 |
| DOIs | |
| Publication status | Published - Apr 4 2016 |
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Keywords
- Adult
- DNA
- Female
- Fetus
- Genes, sry
- Humans
- Male
- Pregnancy
- Prenatal Diagnosis
- Sex Determination Analysis
- Sex Determination Processes
- Letter
Cite this
Three-hour analysis of non-invasive foetal sex determination : application of Plexor chemistry. / Pietropolli, Adalgisa; Capogna, Maria Vittoria; Cascella, Raffaella; Germani, Chiara; Bruno, Valentina; Strafella, Claudia; Sarta, Simona; Ticconi, Carlo; Marmo, Giusy; Gallaro, Sara; Longo, Giuliana; Marsella, Luigi Tonino; Novelli, Antonio; Novelli, Giuseppe; Piccione, Emilio; Giardina, Emiliano.
In: Human Genomics, Vol. 10, 04.04.2016, p. 9.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Three-hour analysis of non-invasive foetal sex determination
T2 - application of Plexor chemistry
AU - Pietropolli, Adalgisa
AU - Capogna, Maria Vittoria
AU - Cascella, Raffaella
AU - Germani, Chiara
AU - Bruno, Valentina
AU - Strafella, Claudia
AU - Sarta, Simona
AU - Ticconi, Carlo
AU - Marmo, Giusy
AU - Gallaro, Sara
AU - Longo, Giuliana
AU - Marsella, Luigi Tonino
AU - Novelli, Antonio
AU - Novelli, Giuseppe
AU - Piccione, Emilio
AU - Giardina, Emiliano
PY - 2016/4/4
Y1 - 2016/4/4
N2 - BACKGROUND: The knowledge of the individual genetic "status" in the prenatal era is particularly relevant in the case of positive family history for genetic diseases, in advanced maternal age and in the general screening for foetal abnormalities. In this context, here, we report an innovative molecular assay which utilizes the cell-free foetal DNA (cffDNA) as a source for the early and fast detection of the foetal sex. The study involved 132 pregnant women in their first 3 months of pregnancy, who agreed to give a blood sample. All the collected samples were immediately subjected to the separation of the plasma, which was utilized for the extraction of the cffDNA. Successively, the extracted cffDNA was analysed by a quantitative PCR (qPCR) method based on Plexor-HY chemistry, which is able to simultaneously identify, quantify and discriminate the autosomal DNA from the sex-linked DNA.RESULTS: Overall, the Plexor-HY assay demonstrated to be sensitive and specific for the determination of low-template DNA, such as the cffDNA. In fact, the Plexor-HY assay has been successfully performed in all the samples, identifying 70 males and 62 females. As the foetal sex can be provided in 120 min just by utilizing a maternal blood sample as cffDNA source, the assay represents a very fast, safe and non-invasive prenatal method.CONCLUSIONS: The possibility of determining the foetal sex in the early prenatal life consents the application of our assay as a helpful screening test for subjects and families at risk of sex-linked disorders. Moreover, the early knowledge of the foetal sex may be of great help even for the specialist, who might promptly advise the patients concerning the foetal risk of inheriting sex-linked disorders and the clinical utility of performing an invasive prenatal diagnosis.
AB - BACKGROUND: The knowledge of the individual genetic "status" in the prenatal era is particularly relevant in the case of positive family history for genetic diseases, in advanced maternal age and in the general screening for foetal abnormalities. In this context, here, we report an innovative molecular assay which utilizes the cell-free foetal DNA (cffDNA) as a source for the early and fast detection of the foetal sex. The study involved 132 pregnant women in their first 3 months of pregnancy, who agreed to give a blood sample. All the collected samples were immediately subjected to the separation of the plasma, which was utilized for the extraction of the cffDNA. Successively, the extracted cffDNA was analysed by a quantitative PCR (qPCR) method based on Plexor-HY chemistry, which is able to simultaneously identify, quantify and discriminate the autosomal DNA from the sex-linked DNA.RESULTS: Overall, the Plexor-HY assay demonstrated to be sensitive and specific for the determination of low-template DNA, such as the cffDNA. In fact, the Plexor-HY assay has been successfully performed in all the samples, identifying 70 males and 62 females. As the foetal sex can be provided in 120 min just by utilizing a maternal blood sample as cffDNA source, the assay represents a very fast, safe and non-invasive prenatal method.CONCLUSIONS: The possibility of determining the foetal sex in the early prenatal life consents the application of our assay as a helpful screening test for subjects and families at risk of sex-linked disorders. Moreover, the early knowledge of the foetal sex may be of great help even for the specialist, who might promptly advise the patients concerning the foetal risk of inheriting sex-linked disorders and the clinical utility of performing an invasive prenatal diagnosis.
KW - Adult
KW - DNA
KW - Female
KW - Fetus
KW - Genes, sry
KW - Humans
KW - Male
KW - Pregnancy
KW - Prenatal Diagnosis
KW - Sex Determination Analysis
KW - Sex Determination Processes
KW - Letter
U2 - 10.1186/s40246-016-0066-2
DO - 10.1186/s40246-016-0066-2
M3 - Article
C2 - 27044517
VL - 10
SP - 9
JO - Human Genomics
JF - Human Genomics
SN - 1473-9542
ER -