Refined fluorescent STR quantification of cell-free fetal DNA
during pregnancy in physiological and Down syndrome fetuses

J 2008

Refined fluorescent STR quantification of cell-free fetal DNA during pregnancy in physiological and Down syndrome fetuses

VODIČKA, Radek; Radek VRTĚL; Ladislav DUŠEK; Martin PROCHÁZKA; Eva SCHNEIDEROVÁ et. al.

Basic information

Original name

Refined fluorescent STR quantification of cell-free fetal DNA during pregnancy in physiological and Down syndrome fetuses

Authors

VODIČKA, Radek; Radek VRTĚL; Ladislav DUŠEK; Martin PROCHÁZKA; Eva SCHNEIDEROVÁ; Dita VRBICKÁ; Eva KREJČIŘÍKOVÁ; Ishraq DHAIFALAH; Alena ŠANTAVÁ and Jiří ŠANTAVÝ

Edition

Prenatal Diagnosis, 2008, 0197-3851

Other information

Language

English

Type of outcome

Article in a journal

Field of Study

Genetics and molecular biology

Country of publisher

United States of America

Confidentiality degree

is not subject to a state or trade secret

Impact factor

Impact factor: 1.596

Organization unit

Faculty of Medicine

DOI

https://doi.org/10.1002/pd.1996

UT WoS

000256649900011

Keywords in English

cell-free fetal DNA; noninvasive prenatal diagnosis; Down syndrome; short tandem repeats; capillary electrophoresis

Changed: 16/1/2014 12:29, Mgr. Jakub Gregor, Ph.D.

Abstract

In the original language

Background Cell-free fetal (cff) DNA analysis by short tandem repeats (STR) has the advantage of better recognizing the different genotypes. However, quantitative examination by quantitative fluorescent (QF) polymerase chain reaction (PCR) by STRs is limited to only a rough approximation. This project focuses on a more precise calculation of the relative cff DNA amount tested in the STRs’ loci. Methods The cff DNA was analyzed in 363 samples from 258 pregnant women with physiological fetuses in different stages of pregnancy (from 4–37 gestational weeks) separately in three STRs [D21S1435, D21S1446 and PentaD (pD)] and also by gonosomal sequences amelogenin gene, X/Y-linked/testis specific protein, Ylinked (AMELX/Y/TSPY). Seventeen samples of cff DNA from fetuses with Down syndrome (DS) were compared. We optimized the refined quantitative fluorescent (RQF) PCR for STRs in a particular locus. Results and Conclusions The cff DNA detection rate was 74% in at least one of the STRs. The efficiency decreased from shorter to longer PCR fragments. All three STR and gonosomal loci proved an increase in cff DNA during pregnancy. The stutter variability rate is greatest in short STR fragments and decreases as the STR fragments increase in length. Results showed that DS samples had a significantly higher amount of cff DNA.

Cite

VODIČKA, Radek; Radek VRTĚL; Ladislav DUŠEK; Martin PROCHÁZKA; Eva SCHNEIDEROVÁ; Dita VRBICKÁ; Eva KREJČIŘÍKOVÁ; Ishraq DHAIFALAH; Alena ŠANTAVÁ and Jiří ŠANTAVÝ. Refined fluorescent STR quantification of cell-free fetal DNA during pregnancy in physiological and Down syndrome fetuses. Prenatal Diagnosis. 2008, vol. 28, No 5, p. 425-433. ISSN 0197-3851. Available from: https://doi.org/10.1002/pd.1996.

@article{1159433,
   author = {Vodička, Radek and Vrtěl, Radek and Dušek, Ladislav and Procházka, Martin and Schneiderová, Eva and Vrbická, Dita and Krejčiříková, Eva and Dhaifalah, Ishraq and Šantavá, Alena and Šantavý, Jiří},
   article_number = {5},
   doi = {https://doi.org/10.1002/pd.1996},
   keywords = {cell-free fetal DNA; noninvasive prenatal diagnosis; Down syndrome; short tandem repeats; capillary electrophoresis},
   language = {eng},
   issn = {0197-3851},
   journal = {Prenatal Diagnosis},
   title = {Refined fluorescent STR quantification of cell-free fetal DNA during pregnancy in physiological and Down syndrome fetuses},
   volume = {28},
   year = {2008}
}

TY  - JOUR
ID  - 1159433
AU  - Vodička, Radek - Vrtěl, Radek - Dušek, Ladislav - Procházka, Martin - Schneiderová, Eva - Vrbická, Dita - Krejčiříková, Eva - Dhaifalah, Ishraq - Šantavá, Alena - Šantavý, Jiří
PY  - 2008
TI  - Refined fluorescent STR quantification of cell-free fetal DNA during pregnancy in physiological and Down syndrome fetuses
JF  - Prenatal Diagnosis
VL  - 28
IS  - 5
SP  - 425-433
EP  - 425-433
SN  - 01973851
KW  - cell-free fetal DNA
KW  - noninvasive prenatal diagnosis
KW  - Down syndrome
KW  - short tandem repeats
KW  - capillary electrophoresis
N2  - Background Cell-free fetal (cff) DNA analysis by short tandem repeats (STR) has the advantage of better recognizing the different genotypes. However, quantitative examination by quantitative fluorescent (QF) polymerase chain reaction (PCR) by STRs is limited to only a rough approximation. This project focuses on a more precise calculation of the relative cff DNA amount tested in the STRs’ loci. Methods The cff DNA was analyzed in 363 samples from 258 pregnant women with physiological fetuses in different stages of pregnancy (from 4–37 gestational weeks) separately in three STRs [D21S1435, D21S1446 and PentaD (pD)] and also by gonosomal sequences amelogenin gene, X/Y-linked/testis specific protein, Ylinked (AMELX/Y/TSPY). Seventeen samples of cff DNA from fetuses with Down syndrome (DS) were compared. We optimized the refined quantitative fluorescent (RQF) PCR for STRs in a particular locus. Results and Conclusions The cff DNA detection rate was 74% in at least one of the STRs. The efficiency decreased from shorter to longer PCR fragments. All three STR and gonosomal loci proved an increase in cff DNA during pregnancy. The stutter variability rate is greatest in short STR fragments and decreases as the STR fragments increase in length. Results showed that DS samples had a significantly higher amount of cff DNA.
ER  -

VODIČKA, Radek; Radek VRTĚL; Ladislav DUŠEK; Martin PROCHÁZKA; Eva SCHNEIDEROVÁ; Dita VRBICKÁ; Eva KREJČIŘÍKOVÁ; Ishraq DHAIFALAH; Alena ŠANTAVÁ and Jiří ŠANTAVÝ. Refined fluorescent STR quantification of cell-free fetal DNA during pregnancy in physiological and Down syndrome fetuses. \textit{Prenatal Diagnosis}. 2008, vol.~28, No~5, p.~425-433. ISSN~0197-3851. Available from: https://doi.org/10.1002/pd.1996.

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