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Noninvasive prenatal testing (NIPT) using sequencing of fetal cell-free DNA from maternal plasma has enabled accurate prenatal diagnosis of aneuploidy and become increasingly accepted in clinical practice. We investigated whether NIPT using semiconductor sequencing platform (SSP) could reliably detect subchromosomal deletions/duplications in women carrying high-risk fetuses. We first showed tha...

BACKGROUND The discovery of circulating fetal DNA in maternal blood led to the discovery of new strategies to perform noninvasive testing for prenatal diagnosis. OBJECTIVE The purpose of the study was to detect fetal aneuploidy at chromosomes 13, 18, 21, X, and Y by analysis of fetal cell-free DNA from maternal blood, without endangering pregnancy. MATERIALS AND METHODS This retrospective s...

Due to the low percentage of fetal DNA present in maternal plasma (< 10%) during early gestation, efficient extraction processes are required for successful downstream detection applications in non-invasive prenatal diagnostic testing. In this study, two extraction methods using similar chemistries but different workflows were compared for isolation efficiency and percent fetal DNA recovery. Th...

Introduction: Circulating fetal cells isolated from maternal blood can be used for prenatal testing, representing a safe alternative to invasive testing. The present study investigated the potential of cell-based noninvasive testing (NIPT) diagnosing monogenic disorders dependent on mode inheritance. Methods: Maternal samples were collected women opting diagnostics specific ( N = 7). Fetal trop...

Noninvasive prenatal testing using fetal DNA in maternal plasma is an actively researched area. The current generation of tests using massively parallel sequencing is based on counting plasma DNA sequences originating from different genomic regions. In this study, we explored a different approach that is based on the use of DNA fragment size as a diagnostic parameter. This approach is dependent...

UNLABELLED Cell-free fetal nucleic acids circulating in the blood of pregnant women afford the opportunity for early, noninvasive prenatal genetic testing. The predominance of admixed maternal genetic material in circulation demands innovative means for identification and analysis of cell-free fetal DNA and RNA. Techniques using polymerase chain reaction, mass spectrometry, and sequencing have ...

Over the past 15 years there has been increasing interest in the biology and diagnostic applications of circulating DNA in the plasma of human subjects. In particular, DNA from a fetus, a tumour, a transplanted organ and injured tissues has been found in the plasma of pregnant women, cancer patients, transplant recipients and patients suffering from multiple pathologies, respectively. The adven...

BACKGROUND Routine prenatal diagnosis of chromosomal anomalies is based on invasive procedures, which carry a risk of approximately 1%-2% for loss of pregnancy. An alternative to these inherently invasive techniques is to isolate fetal DNA circulating in the pregnant mother's plasma. Free fetal DNA circulates in maternal plasma primarily as fragments of lengths <500 bp, with a majority being <3...

We developed genetic-epigenetic tissue mapping (GETMap) to determine the composition of plasma DNA carrying genetic variants not present in constitutional genome through comparing their methylation profiles with relevant tissues. validated this approach by showing that, pregnant women, circulating fetal-specific alleles was entirely placenta-derived. In lung transplant recipients, we showed at ...