The impact of preimplantation genetic testing for aneuploidies (PGT-A) on clinical outcomes in high risk patients.

Purpose: To investigate whether preimplantation genetic testing for aneuploidy (PGT-A) improves the clinical outcome in patients with advanced maternal age (AMA), recurrent miscarriages (RM), and recurrent implantation failure (RIF).

Methods: Retrospective cohort study from a single IVF center and a single genetics laboratory. One hundred seventy-six patients undergoing PGT-A were assigned to three groups: an AMA group, an RM group, and a RIF group.

Low-level X Chromosome Mosaicism: A Common Finding in Women Undergoing IVF.

Background/aim: To determine the incidence of X chromosome mosaicism in women undergoing in vitro fertilization (IVF) treatment and present preimplantation genetic testing for aneuploidy (PGT-A) outcome of this group.

Patients And Methods: A total of 1,058 women undergoing IVF and 154 women with no fertility problems were enrolled in the study. Karyotyping from peripheral blood lymphocytes was performed by conventional cytogenetics.

Tumor molecular profiling of NSCLC patients using next generation sequencing.

Non‑small cell lung cancer (NSCLC) is the most common type of lung cancer and a tumor with a broad spectrum of targeted therapies already available or in clinical trials. Thus, molecular characterization of the tumor using next generation sequencing (NGS) technology, has become a key tool for facilitating treatment decisions and the clinical management of NSCLC patients. The performance of a custom 23 gene multiplex amplification hot spot panel, based on Ion AmpliSeq™ technology, was evaluated for the analysis of tumor DNA extracted from formalin-fixed and paraffin-embedded (FFPE) tissues.

Urine proteomic studies in preeclampsia.

Preeclampsia (PE) is a multisystem disorder of pregnancy that develops after 20 wk of gestation in previously normotensive women and complicates 5-8% of pregnancies. This rapidly progressive syndrome is usually diagnosed when the mother develops hypertension and proteinuria. The only effective treatment is delivery of the baby although early low-dose aspirin has been shown to significantly reduce the risk for PE.

RASSF1A in maternal plasma as a molecular marker of preeclampsia.

Objectives: This study aimed to quantitate cell free (cf) and cell free fetal (cff) DNA in maternal plasma by determining RASSF1A levels before and after enzyme digestion in women who subsequently developed preeclampsia (PE) and compare them with uncomplicated pregnancies.

Methods: Twenty-four samples from pregnant women who developed PE and 48 samples from women with uncomplicated pregnancies were analysed. Blood samples were obtained at 11-13 weeks.

Early non-invasive detection of fetal Y chromosome sequences in maternal plasma using multiplex PCR.

Objective: Clinical indications for fetal sex determination include risk of X-linked disorders, a family history of conditions associated with ambiguous development of the external genitalia, and some fetal ultrasound findings. It is usually performed in the first trimester from fetal material obtained through CVS and is associated with an approximately 1% risk of miscarriage. Ultrasound fetal sex determination is often performed after 11 weeks of gestation.

Non-invasive prenatal diagnosis using cell-free fetal nucleic acids in maternal plasma: Progress overview beyond predictive and personalized diagnosis.

The discovery of circulating cell-free fetal DNA (cffDNA) in maternal plasma allowed for the development of alternative methodologies that may facilitate safe non-invasive prenatal diagnosis (NIPD). The low concentration of cffDNA in maternal plasma, however, and the coexistence of maternal DNA limit its clinical application to the detection or exclusion of fetal targets that are not present in the mother, such as Y chromosome sequences, the RHD gene in a RhD-negative woman and genetic conditions inherited from the father. Strategies for NIPD of monogenic disorders and fetal chromosomal aneuploidies have also been achieved using next-generation sequencing and could be introduced to the clinics as soon as cost-effective and high throughput protocols are developed.

Biomarker development for non-invasive prenatal diagnosis of fetal aneuploidies: predictive reliability and potential clinical application.

Current non-invasive prenatal diagnosis for fetal aneuploidies is based on biochemical and ultrasound markers and needs to be improved in order to reduce the number of pregnant women subjected to invasive diagnostic procedures. Proteomic technologies allow for new strategies for discovering biomarkers in complex biological fluids in a high-throughput and sensitive manner. Application of advance proteomic tools to profile pathology-specific proteins in maternal plasma obtained from pregnancies with aneuploid fetuses revealed biomarker-candidates that can potentially revolutionize the diagnostic and treatment procedure in favor of better prediction and improved individual outcomes.

Application of proteomics for the identification of biomarkers in amniotic fluid: are we ready to provide a reliable prediction?

Proteomics-based identification of biomarkers for fetal abnormalities and pregnancy complications in amniotic fluid (AF) has made significant progress in the past 5 years. This is attributed mainly to advances in mass spectrometry-based proteomic technologies that enable new strategies for discovering biomarkers from complex biological fluids in a high-throughput and sensitive manner. These markers, although they still need to be verified, are diagnostic and may in the future provide targets for therapeutic intervention.

A multiplex PCR for non-invasive fetal RHD genotyping using cell-free fetal DNA.

Aim: To design a protocol for non-invasive prenatal diagnosis of fetal Rhesus D (RhD) status.

Materials And Methods: A total of 112 single lymphocytes were used to test the efficiency of the assay. The protocol was validated using blood samples from 84 RhD-negative pregnant women at 7-24 weeks of gestation.

Proteomic analysis of amniotic fluid for the diagnosis of fetal aneuploidies.

Advances in technologies associated with mass spectrometry-based proteomic techniques have added a new dimension to the field of biomedical research. Most of the existing research on human gestation has focused on the application of these high-throughput methodologies in the study of amniotic fluid. In cases of fetal aneuploidies, the use of proteomic platforms has contributed to the identification of relevant protein biomarkers that could potentially change early diagnosis and treatment.

Noninvasive fetal RhD genotyping from maternal blood.

Rhesus (Rh) D blood group incompatibility between a pregnant woman and the fetus can occasionally cause maternal alloimmunization and hemolytic disease of the fetus and of the newborn in subsequent pregnancies. RHD genotyping of fetuses carried by RhD-negative women using fetal DNA obtained invasively through amniocentesis or chorionic villus sampling is an aid to the clinical management of these cases. Technological advances allow for accurate prediction of fetal RHD genotype using cell-free fetal DNA from maternal blood, thus overcoming the invasive procedures.