Non-invasive fetal sex diagnosis in plasma of early weeks pregnants using droplet digital PCR

D’Aversa, Elisabetta; Breveglieri, Giulia; Pellegatti, Patrizia; Guerra, Giovanni; Gambari, Roberto; Borgatti, Monica

doi:10.1186/s10020-018-0016-7

Cited by 37 publications

(32 citation statements)

References 29 publications

(56 reference statements)

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“…The most common non‐invasive prenatal method for detecting foetal gender DNA in maternal plasma is qPCR 40 . Recently, ddPCR technology has been used to identify the Y chromosome at early gestational ages of pregnant women bearing male foetuses 41,42 . In the future, sensitive technologies will enable the prediction of the pathological phenotype of the unborn, which will thus avoid invasive diagnostic procedures for pregnant women, without risk to the foetus.…”

Section: Key Messages For Appropriate Genetic Counselling and Prenatamentioning

confidence: 99%

Genetic mosaicism in haemophilia: A practical review to help evaluate the risk of transmitting the disease

Lannoy¹,

Hermans²

2020

Haemophilia

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Approximately 70% of patients with haemophilia exhibit a clear inheritance pattern, while for the remaining 30%, patients are the first to be diagnosed in their family and are considered sporadic cases. In such a setting, the determination of carrier status and the risk estimation of disease transmission to another child are major challenges for genetic counselling. Large studies have suggested that genetic testing reveals 70% of sporadic patients' mothers are carriers. In the remaining 30%, in some apparently non-carrier mothers, the pathogenic variant can be detected as low somatic and gonosomal mosaicism. The significance of mosaic pathogenic variants has thus far been underestimated, since conventional Sanger sequencing and other technology are not sufficiently sensitive. The study of various tissue samples and recent extrasensitive molecular methods have now made it easier to detect both single-nucleotide variants (SNVs) and copy-number variants (CNVs), at a mosaic level in parents, and to predict the probability of disease recurrence. This review seeks to examine various kinds of mosaicism in haemophilia, including the mechanisms by which they arise and the risk of passing these variants on to the next generation. In addition, we focus on the selection of cell tissues and methods to detect these mosaic variants in the haemophilia setting. Taking into account the high rate of mosaicism in mothers of sporadic cases, we propose a diagnostic flow chart that could facilitate better evaluation of the risk of transmitting haemophilia in genetic and prenatal counselling. K E Y W O R D S

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Section: Key Messages For Appropriate Genetic Counselling and Prenatamentioning

confidence: 99%

Genetic mosaicism in haemophilia: A practical review to help evaluate the risk of transmitting the disease

Lannoy¹,

Hermans²

2020

Haemophilia

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“…A 2011 systematic review found that fetal sex determination by NIPT before 7 weeks gestation is unreliable . However, a more recent approach using ddPCR may lead to accurate fetal sex determination earlier than seven weeks of gestation . NIPT can also be used to indicate the presence of sex chromosome aneuploidies (SCAs) and other disorders of sex development .…”

Section: Nipt and Sex Determinationmentioning

confidence: 99%

Sex selection and non‐invasive prenatal testing: A review of current practices, evidence, and ethical issues

et al. 2019

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Non‐invasive prenatal testing (NIPT) can determine the sex of the fetus very accurately and very early in gestation. There are concerns that the ease, timing, and accuracy of NIPT sex determination will facilitate sex‐selective termination of pregnancy (TOP). Here, we review current practices, the evidence for a link between NIPT and sex‐selective TOP, and associated ethical issues. Sex‐selective TOP, usually motivated by son preference, has had serious demographic consequences in countries such as India and China. Currently, ultrasound is the primary method by which parents determine the sex of the fetus. The diffusion of ultrasound technology has had a direct impact on the rates of sex‐selective TOP. Although NIPT is currently more costly, it is feasible that increased uptake of this technology could have a similar effect. Partly because NIPT is a relatively recent development in prenatal screening, there is little data on the impact of NIPT on sex selection practices. Evidence that NIPT is playing a role in sex‐selective TOP remains largely anecdotal. Further research is required to assess and quantify TOP resulting from NIPT sex determination. The use of these technologies for sex selection raises a number of ethical issues, in addition to practical demographic consequences.

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“…hdfDNA'nın doğumdan 2 saat sonra, abortustan ise 24 saat sonra maternal dolaşımdan kaybolduğu gösterilmiştir. Bu durumun prenatal tanı için önceki gebelikten oluşabilecek kontaminasyonları engellediği görülmüştür (54). Fetal cinsiyetin belirlenmesinde gebeliğin 7. haftasında %70,9.…”

Section: Genometastaz Ve Hddnaunclassified

Cell Free DNA and Genometastasis

Koçana¹,

Toprak²,

Yaşa³

et al. 2019

Experimed

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Cell free DNAs (cfDNA) are short DNA fragments which are present in all biological fluids and cell culture medium. They were first detected in blood plasma by Mandel and Metais in 1948. cfDNAs are mostly endogenous-derived fragments that are determined in lipid/protein rich complexes or particles with membranes. In healthy individuals, there are small amounts of mono-nucleosome forms of cfDNA in the peripheral circulation. cfDNA can bind to proteins and phospholipids on cell surfaces. This mechanism may related to absorbance and release of cfDNA. Different enzymes such as deoxyribonuclease (DNase) may facilitate the unbounding and recirculation of membrane bound cfDNAs.

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Non-invasive fetal sex diagnosis in plasma of early weeks pregnants using droplet digital PCR

Cited by 37 publications

References 29 publications

Genetic mosaicism in haemophilia: A practical review to help evaluate the risk of transmitting the disease

Genetic mosaicism in haemophilia: A practical review to help evaluate the risk of transmitting the disease

Sex selection and non‐invasive prenatal testing: A review of current practices, evidence, and ethical issues

Cell Free DNA and Genometastasis

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