Replicate real‐time PCR testing of DNA in maternal plasma increases the sensitivity of non‐invasive fetal sex determination

Hromadníková, Ilona; Houbova, Bela; Hridelova, Dana; Voslarova, Sona; Köfer, J.; Komrska, V.; Hui‐Kang, David

doi:10.1002/pd.556

Cited by 61 publications

(44 citation statements)

References 15 publications

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“…A previous study (43 ) demonstrated that increasing the number of sample replicates from three to six in a 50-cycle real-time PCR improved the rate of detection of male DNA in maternal plasma from 92.6% to 100%. In the present study, the PCR was run for 55 cycles to increase sensitivity sufficiently to detect fetal material in early first-trimester samples.…”

Section: Discussionmentioning

confidence: 99%

Accurate and Robust Quantification of Circulating Fetal and Total DNA in Maternal Plasma from 5 to 41 Weeks of Gestation

Birch¹,

English²,

O’Donoghue

et al. 2005

Clinical Chemistry

132

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Background: Detection of fetal DNA in maternal plasma is achievable at 5 weeks of gestation, but few large-scale studies have reported circulating fetal and maternal DNA across all trimesters. Methods: Blood samples were collected from 201 women between 5 and 41 weeks of pregnancy. Quantitative PCR was used to assess total and fetal DNA concentrations, and allelic discrimination analysis was investigated as a route to detecting specifically fetal DNA. Results: Male fetuses were detectable from 5 weeks amenorrhea with increasing fetal DNA concentrations across gestation. The sensitivity of fetal male gender determination in pregnancies with live birth confirmation was 99%, with 100% specificity. Total DNA concentrations did not correlate with gestational age, but appeared slightly higher in the first and third trimesters than in mid-pregnancy. Analysis of short tandem repeats demonstrated that significant improvements in the detection limit are required for specific detection of fetal DNA. Conclusions: The high sensitivity of PCR-based detection, together with quantification provided by real-time DNA analysis, has clear potential for clinical application in noninvasive prenatal diagnosis. However, accurate quantification using best-fit data analysis, standardization of methods, and performance control

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Section: Discussionmentioning

confidence: 99%

Accurate and Robust Quantification of Circulating Fetal and Total DNA in Maternal Plasma from 5 to 41 Weeks of Gestation

Birch¹,

English²,

O’Donoghue

et al. 2005

Clinical Chemistry

132

View full text Add to dashboard Cite

show abstract

“…Technical advances, such as the development of quantitative real-time polymerase chain reaction, have allowed several groups to demonstrate a 100% sensitivity and specificity in the detection of male fetuses [23][24][25]. Free fetal DNA has been detected as early as the fifth week of pregnancy [24], but concentrations, and subsequently the sensitivity of the test, increase with advancing gestation.…”

Section: (Grade C Level Iv)mentioning

confidence: 99%

The obstetric and gynaecological management of women with inherited bleeding disorders – review with guidelines produced by a taskforce of UK Haemophilia Centre Doctors’ Organization

et al. 2006

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Summary. The gynaecological and obstetric management of women with inherited coagulation disorders requires close collaboration between obstetrician/ gynaecologists and haematologists. Ideally these women should be managed in a joint disciplinary clinic where expertise and facilities are available to provide comprehensive assessment of the bleeding disorder and a combined plan of management. The haematologist should arrange and interpret laboratory tests and make provision for appropriate replacement therapy. These guidelines have been provided for healthcare professionals for information and guidance and it is also intended that they are readily available for women with bleeding disorders.

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“…Khorram Khorshid et al, have done the same experiments on the normal pregnant women could able to predict fetal gender with 97.3% sensitivity using real time PCR on the same genes on the chromosome Y [33]. Hromadnikova I et al, demonstrated a sensitivity and specificity of 100% in 12 pregnancies at risk of Haemophilia, 11 haemophilia A and 1 haemophilia B, and 32 pregnancies at risk of chromosomal aneuploidies in the 10 th to 18 th weeks of gestation using TaqMan Real-Time PCR [34]. Bustamante-Aragones A et al, assessed fetal sex with an accuracy and specificity of 100% from a gestational age of 7 weeks by RealTime PCR analysis [35].…”

Section: Methodsmentioning

confidence: 99%

Evaluation of an Improved Non- invasive Fetal Sex Determination in Haemophilia A Patients

Mokarizadeh

Mesbah‐Namin

2015

JCDR

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Background: Haemophilia A (HA) is the most severe sex-linked bleeding disorder that is characterized with non-controlled and often threatening Haemorrhage. Routine fetal sex determination in early pregnancy with Haemophilia is based on invasive procedures that can be dangerous to the mother and fetus.Aim: The goal of this study is to present an improved assay for the non-invasive fetal sex determination using a Real-Time duplex PCR on the free fetal DNA (ffDNA) obtained from the maternal serum of the HA carriers.

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Replicate real‐time PCR testing of DNA in maternal plasma increases the sensitivity of non‐invasive fetal sex determination

Abstract: Amplification of free fetal DNA in maternal plasma is a valid and rapid technique for predicting fetal sex in first- and second-trimester pregnancies and could allow the restriction of invasive sampling procedures to male fetuses at risk of X-linked disorders.

Cited by 61 publications

References 15 publications

Accurate and Robust Quantification of Circulating Fetal and Total DNA in Maternal Plasma from 5 to 41 Weeks of Gestation

Accurate and Robust Quantification of Circulating Fetal and Total DNA in Maternal Plasma from 5 to 41 Weeks of Gestation

The obstetric and gynaecological management of women with inherited bleeding disorders – review with guidelines produced by a taskforce of UK Haemophilia Centre Doctors’ Organization

Evaluation of an Improved Non- invasive Fetal Sex Determination in Haemophilia A Patients

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