The Types and Frequencies of X Chromosome Abnormalities in Women with Reproductive Problems.

Introduction: X chromosome architecture and integrity are essential for normal ovarian function. Both numerical and structural X chromosome abnormalities play an important role in female infertility. This study aimed to determine the types and frequency of X chromosome aberrations detected in women referred for cytogenetic investigation due to reproductive problems.

A 46,XX Karyotype in Men with Infertility: Two New Cases and Review of the Literature.

46,XX male sex reversal syndrome is a rare genetic cause of male infertility. We report on two new cases of this syndrome in men presenting with hypogonadism and infertility. Cytogenetic and molecular analysis was performed in both patients.

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.

Female Reproductive Ageing and Chromosomal Abnormalities in a Large Series of Women Undergoing IVF.

Chromosomal abnormalities are often detected in women with reproductive problems. This study aimed to investigate the presence and type of chromosomal aberrations in peripheral blood of women undergoing in vitro fertilization (IVF) and their possible association with advanced maternal age (AMA). A total of 1,837 women undergoing IVF between 2016 and 2019 were enrolled in the study.

Cytogenetic findings of ectopic endometriotic tissue in women with endometriosis and review of the literature.

Objective: To determine chromosome and gene alterations in ectopic endometrial (EM) tissue which may be implicated in the clinical course or the progression of endometriosis and to review the literature concerning the cytogenetic findings of women with endometriosis.

Study Design: 15 women who underwent laparoscopic endometriosis surgery at the Athens Genesis Clinic were enrolled in the study. Ectopic endometrial tissue was surgically removed and further analyzed by conventional and molecular cytogenetic techniques.

Detection of a novel unbalanced X;21 translocation in a girl with Turner syndrome phenotype.

Objective: To describe a novel unbalanced X;21 translocation resulting in a derivative pseudodicentric chromosome X;21 lacking the critical region for ovarian development and function, in a 16-year-old girl referred for cytogenetic analysis due to primary amenorrhea and Turner-like features.

Methods: Cytogenetic analysis of the proband and her parents was performed on peripheral blood lymphocytes by GTG banding. Molecular cytogenetic FISH analysis was performed on metaphase preparations, using X chromosome centromeric probe and telomeric and pancentromeric peptide nucleic acid (PNA) analog probes.

Coffin-Siris Syndrome 4-Related Spectrum in a Young Woman Caused by a Heterozygous Deletion Detected by High-Resolution aCGH.

Coffin-Siris Syndrome 4 is an autosomal dominant congenital malformation syndrome caused by heterozygous mutations in the gene with its main features being intellectual disability, developmental delay, behavioral abnormalities, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Here, we report a young woman with developmental delay, moderate intellectual disability, and bilateral sensorineural hearing loss, referred for genetic testing. High-resolution chromosomal microarray analysis identified a 428-kb deletion in chromosome 19 which included the gene.

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.

Dysregulated placental microRNAs in Early and Late onset Preeclampsia.

Introduction: To determine the miRNA expression profile in placentas complicated by Preeclampsia (PE) and compare it to uncomplicated pregnancies.

Methods: Sixteen placentas from women with PE, [11 with early onset PE (EOPE) and 5 with late onset PE (LOPE)], as well as 8 placentas from uncomplicated pregnancies were analyzed using miRNA microarrays. For statistical analyses the MATLAB simulation environment was applied.

Plasma biomarkers for the identification of women at risk for early-onset preeclampsia.

Background: To identify potential biomarkers in the 1st trimester of pregnancy for the identification of women destined to develop early onset preeclampsia (EOPE).

Methods: Blood samples were obtained from pregnant women at 11-13 weeks of gestation. Women were followed up until delivery.

miRNAs in pregnancy-related complications.

MicroRNAs (miRNAs) constitute a highly conserved class of small non-coding RNAs, involved in post-transcriptional regulation processes by modifying the expression of specific mRNAs. During placental development, cell differentiation, adhesion, migration, apoptosis and angiogenesis are regulated by specific miRNAs and aberrant expression has been associated with the pathogenesis of pregnancy-related complications. Recent studies focusing on placental and maternal peripheral blood miRNA profiling showed different expression between normal and complicated pregnancies, providing valuable information about the pathophysiological role of miRNAs and identifying potential biomarkers for monitoring pregnancy complications.

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.

Validation of serum biomarkers derived from proteomic analysis for the early screening of preeclampsia.

Aim: To examine the potential value of previously identified biomarkers using proteomics in early screening for preeclampsia (PE).

Methods: 24 blood samples from women who subsequently developed PE and 48 from uncomplicated pregnancies were obtained at 11-13 weeks and analysed after delivery. Cystatin-C, sVCAM-1, and Pappalysin-1 were quantified by ELISA.

Screening human genes for small alterations performing an enzymatic cleavage mismatched analysis (ECMA) protocol.

Many human diseases are caused by small alterations in the genes and in the majority of cases sophisticated protocols are required for their detection. In this study we estimated the efficacy of an enzymatic protocol, which using a new mismatch-specific DNA plant endonuclease from celery (CEL family) recognizes and cleaves mismatched alleles between mutant and normal PCR products. The protocol was standardized on a variety of known mutations, in 11 patients with cystic fibrosis (CF), Fabry's disease (FD), steroid 21-hydroxylase deficiency (21-HD), and Duchenne/Becker muscular dystrophy (DMD/BMD).

Collyria seals in the Roman Empire.

Roman seals associated with collyria (Latin expression for eye drops/washes and lotions for eye maintenance) provide valuable information about eye care in the antiquity. These small, usually stone-made pieces bore engravings with the names of eye doctors and also the collyria used to treat an eye disease. The collyria seals have been found all over the Roman empire and Celtic territories in particular and were usually associated with military camps.

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.

Screening of UBE3A gene in patients referred for Angelman Syndrome.

Angelman Syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delay, speech impairment and unique behaviors including inappropriate laughter and happy disposition. AS is related to deficient maternal UBE3A gene expression caused either by chromosomal deletions, uniparental disomy, molecular defects of the imprinted 15q11-q13 critical region or by loss of function mutations in the maternally inherited UBE3A. In the present study, screening UBE3A was performed in 43 patients who were referred for AS but whom previous molecular diagnostic tests failed to provide a diagnosis.

Association of A(313)G glutathione S-transferase P1 germline polymorphism with susceptibility to de novo myelodysplastic syndrome.

Models for the pathogenesis of myelodysplastic syndrome (MDS) imply the role of individual genetic variations in genes involved in detoxification mechanisms. GSTP1 enzyme plays a key role in the biotransformation of a variety of carcinogens. The corresponding gene is subject to a single nucleotide polymorphism (A(313)G) leading to abolished enzyme activity.

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.

Jérôme Lejeune (1926-1994): father of modern genetics.

Jérôme Lejeune's greatest achievement was the discovery of the genetic basis of Down's syndrome, which he named trisomy 21. His important research in human genetics, as well as his humanitarian spirit and fight against therapeutic abortion, rightly led to his recognition as the founder of modern genetics.

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.