Is there any effect of maternal age on chromosomal anomaly rate and spectrum in recurrent miscarriage?There was no significant difference the chromosome abnormality between sporadic miscarriage but increased significantly with age.About 50-70% non-recurrent miscarriages occur because a anomaly, agreement about either or number previous has been reached.A retrospective cohort 353 successfully karyotyped same center 2002 2011, grouped according to age.Among women, 153 were below 35 years (73...

To determine the sensitivity of first-trimester ultrasound for diagnosing different structural anomalies in chromosomally normal pregnancies, and to establish role aneuploidy markers detection abnormalities.This was a retrospective study singleton pregnancies with an 11-14-week scan performed our center during 2002-2009. The examination included early fetal anatomy survey assessment nuchal translucency, ductus venosus blood flow nasal bone.Among 13 723 scanned no genetic complete follow-up,...

To assess the best method of combining fetal nuchal translucency (NT) and ductus venosus (DV) blood flow measurements in detection major cardiac defects chromosomally normal fetuses during first-trimester scan.During an 8-year period NT DV were routinely assessed at 11-14 weeks' gestation. Only singleton pregnancies included study. When a defect was suspected, or when increased and/or absent reversed (AR) A-wave observed, early echocardiography offered. Data on routine second-...

Little information is available about the risk of microdeletion and microduplication syndromes in fetal growth restriction (FGR) with a normal karyotype.To assess incremental yield genomic microarray over conventional karyotyping fetuses early restriction.Genomic was prospectively performed defined as weight below 3rd percentile estimated before 32 weeks pregnancy, quantitative fluorescent polymerase chain reaction result. The by rate presenting pathogenic copy number variant 10 Mb.Among 133...

Control of cell cycle progression by stress-activated protein kinases (SAPKs) is essential for adaptation to extracellular stimuli. The Schizosaccharomyces pombe SAPK Sty1/Spc1 orchestrates general changes in gene expression response diverse forms cytotoxic stress. Here we show that bound its target, the Srk1 kinase, when signaling pathway inactive. In stress, phosphorylates at threonine 463 regulatory domain, inducing both activation which negatively regulates inhibiting Cdc25, and...

Abstract Voltage-dependent potassium channels (Kv) in leukocytes are involved the immune response. In bone marrow-derived macrophages (BMDM), proliferation and activation induce delayed rectifier K+ currents, generated by Kv1.3, via transcriptional, translational, posttranslational controls. Furthermore, modulatory Kvβ subunits coassociate with Kvα subunits, increasing channel diversity function. this study we have identified mouse BMDM, studied their regulation during activation, analyzed...

ABSTRACT Objective This study aims to assess the suitability of non‐invasive prenatal RHD genotyping in non‐immunized midtrimester pregnant women from a mixed ethnic population, prevent unnecessary anti‐D immunoglobulin prophylaxis and identify variants Methods Rhesus D‐negative were offered fetal at 24 gestational weeks. A total 284 samples tested for status using multiplex rt‐PCR amplification exons 5 7 gene 6 10 selected cases. Women carrying ‐negative fetuses counseled about their option...

STUDY QUESTIONCan antral follicle count (AFC) measured during pregnancy be used as a marker of ovarian age to assess the background risk fetal aneuploidy?

Abstract KCNQ1/KCNE1 channels are responsible for the Jervell–Lange–Nielsen cardiac syndrome, which is also characterized by congenital deafness. crucial K + transport in inner ear. We show that KCNQ1 and KCNE1 associated testis their expression closely regulated during development. Both genes were expressed undifferentiated germ cells 21‐day‐old rats mostly confined to basal immature adulthood. Leydig Sertoli negative. studied various germ‐cell pathologies. First, spontaneous unilateral rat...

Abstract Voltage‐dependent potassium channels contribute to the electrical properties of nerve and muscle by affecting action potential shape duration. The complexity currents generated is further enhanced presence accessory β subunits. Here we report that while all Kvβ mRNA isoforms are present in rat brain, tissues express only Kvβ1 (Kvβ1.1–Kvβ1.3) Kvβ2, but not Kvβ3. subunits were close regulated through post‐natal development brain striated muscle, as well during myogenesis skeletal cell...

To assess the risks of fetal anomalies, loss and adverse perinatal outcome in a cohort first-trimester intertwin crown-rump length (CRL) discordant twins, stratified by chorionicity degree CRL discordance.Four-hundred-and-seventy-one twin pregnancies were scanned during an 8-year period at 11-14 weeks, those with discordance ≥10% compared concordant twins. Outcomes also between monochorionic dichorionic twins moderate (10-16%) severe (>16%) discordance.Four-hundred-and-five pregnancies, 65...

To investigate whether increased nuchal translucency (NT) in fetuses with a crown-rump length (CRL) below 45 mm needs to be re-evaluated at later stage, or the early NT measurement can used effectively as an aneuploidy marker.This was prospective cohort study including all singleton CRL between 28 and 44 mm, scanned our center during 2002-2012. The CRL, NT, fetal karyotype (when available) pregnancy outcome were recorded. reference ranges constructed using Lambda-Mu-Sigma (LMS) method...

To assess fetal cardiac function in first-trimester trisomy-21 fetuses as compared with other aneuploidies, euploid defects or isolated increased nuchal translucency (NT) and controls.During a 2.5-year period, NT, ductus venosus (DV) blood flow, diastolic filling time, early tricuspid mitral valve E/A velocity ratios, left ventricle shortening fraction, myocardial performance index heart rate were assessed crown-rump length between 45 84 mm undergoing chorionic villus sampling at our center....

Analysis of mRNA expression is one the main targets scientific research. However, its quantification can be difficult, especially when dealing with low-expression mRNAs (ionic channels, carriers, receptors, etc.) or only small samples are available (human biopsies). Here we suggest an easy, rapid and reliable method to assess semiquantitative changes in that combines several technical improvements: i) one-step reverse transcription polymerase chain reaction (RT-PCR) from total RNA; ii)...

To assess the feasibility of nasal bone (NB), ductus venosus (DV) and tricuspid flow (TF) at 11-13 weeks' scan, calculate likelihood ratios for each markers evaluate their efficacy in expanded contingent screening strategies Down syndrome.NB, DV TF were assessed 11,261 singleton fetuses undergoing first trimester combined screening. For marker, syndrome detection rate (DR), false positive (FPR), positive, negative isolated (PLR, NLR iLR) calculated. Likelihood multiplied to test risk either...

To determine the sensitivity of first-trimester ultrasound for diagnosing different structural anomalies in chromosomally normal pregnancies, and role nuchal translucency ductus venosus blood flow detection abnormalities. This was a retrospective study including singleton pregnancies with an 11–14 week scan performed our center during 2002–2009 period. An early fetal anatomy survey assessment were performed. Among 14,368 scanned first trimester 439 fetuses (2.7%) found to present anomalies....

<b><i>Objective:</i></b> To assess the distribution of parental origin retained X chromosome in monosomy X, either miscarriages or ongoing pregnancies. <b><i>Method:</i></b> The was determined pregnancies, Microsatellite marker patterns were compared between maternal and fetal samples by quantitative fluorescence polymerase chain reaction. Distributions maternally paternally derived assessed pregnancies using two-tailed Fisher exact test....

(Abstracted from Fetal Diagn Ther 2017;42:174–180) Literature has shown that conventional chromosomal anomalies can account for up to 19% of fetal growth restrictions (FGRs) when those with are included. The majority these triploidy if the fetus is less than 26 weeks and trisomy 18 equal or greater weeks' gestation.

The aim of this study was to assess the role nuchal translucency (NT) in prediction unbalanced translocation offspring couples which one parents is a balanced carrier.From January 1996 December 2012, fetal NT measured before chorionic villus sampling 86 pregnancies referred because parental translocation.No significant differences pregnancy characteristics and expressed millimetres or multiples median (MoMs) were observed between 41 fetuses with normal karyotype [1.72 mm, 95% confidence...