First trimester serum biomarkers in pregnancies complicated with placental chronic inflammation

This study aimed at determining if first trimester serum biomarkers could predict adverse pregnancy outcomes associated with villitis (VUE) and chronic intervillositis of unknown etiology (CIUE).Study designBetween January 2013 and June 2018, we selected from pathology department files placentas with VUE or CIUE associated with VUE and control placentas with available first trimester Down syndrome screening results. First trimester PAPP-A and βhCG levels were recorded. Placental growth factor (PlGF) levels were measured in patients with an available first trimester serum sample. Histological findings in placentas, course of pregnancies and newborns’ characteristics were compared between cases and controls.Results78 cases and 75 controls were included. In cases, there were 21,8% intrauterine growth restriction (IUGR), 30,8% small for gestational age (SGA). Compared to controls, placentas from cases were smaller (425 g [IQR 370-480] vs 460 g [IQR 390-523], p = 0,03), showed more maternal vascular malperfusion features (79,5% vs 22,7%, p 
Source: European Journal of Obstetrics and Gynecology and Reproductive Biology - Category: OBGYN Source Type: research

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ConclusionOur observation and the review of the literature reported the possibility of very weak mosaicism and disease ‐causing confined tissue‐specific mosaicism in fetus or alive patients with chromosome 21 aneuploidy, mainly Down syndrome. In case of clinical diagnosis suggestive of Down syndrome, attention must be paid to the risk of false‐negative test due to chromosomal mosaicism (very weak percentage, d ifferent tissue distribution). To overcome this risk, it is necessary to privilege the diagnostic techniques without culture step and to increase the number of cells and tissues analyzed, if possible. This stud...
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
Abstract Translocations are the most common type of structural chromosomal abnormalities. Unbalanced translocations are usually found in children who present with congenital abnormalities, developmental delay, or intellectual disability. Balanced translocations are usually found in adults who frequently present with reproductive failure; either subfertility, or recurrent pregnancy loss. Herein, we report the spectrum and frequency of translocations in a Sri Lankan cohort. A database of patients undergoing cytogenetic testing was maintained prospectively from January 2007 to December 2016 and analyzed, retrospectiv...
Source: Biomed Res - Category: Research Authors: Tags: Biomed Res Int Source Type: research
ConclusionsThis study indicates that besides trisomy 21, the Oocyte Mosaicism Selection model could be extended to trisomy 13 as well. The crucial factor for trisomy 13 seems to be the pre ‐meiotic/mitotic trisomy 13 mosaicism, leading to a so‐called secondary meiotic nondisjunction of those oocytes having three copies of chromosome 13.
Source: Acta Obstetricia et Gynecologica Scandinavica - Category: OBGYN Authors: Tags: ORIGINAL RESEARCH ARTICLE Source Type: research
Nuchal translucency has been a part of Prenatal Screening in Ontario since 2001, and sonographers have played a huge role in providing the majority of pregnant women with excellent quality risk prediction for Down syndrome. However, many Ontario sonographers have not been a part of the internationally recognized QA programs after their initial certification, for example, with the Fetal Medicine Foundation UK. Both internationally and nationally, authorities have recommended that anyone providing NT measurements be a part of a formal NTQA program, as it has been noted that without it, measurement quality and therefore quali...
Source: Journal of Medical Imaging and Radiation Sciences - Category: Radiology Authors: Source Type: research
We report a prenatally diagnosed case of de novo 4q deletion syndrome confirmed by conventional karyotyping and FISH due to an elevated combined risk for Down syndrome and prenatal ultrasound findings. aCGH validated the diagnosis and offered exact characterization of the disorder. Cytogenetic and microarray results described a 4q32.1qter terminal deletion of the fetus. Prenatal ultrasound detected multiple nonstructural findings (micrognathia, choroid plexus cysts, echogenic fetal bowel, short femur, and cardiac axis deviation). Pregnancy was terminated at 20 weeks. In addition to the index patient, we reviewed the 10 pre...
Source: Cytogenetic and Genome Research - Category: Genetics & Stem Cells Source Type: research
ConclusionConsidering this fact that medical malpractice was confirmed in a large proportion of some preventable and important complications, therefore, results of this study can be used for developing educational programs for related healthcare providers to prevent those complications.
Source: Journal of Forensic and Legal Medicine - Category: Forensic Medicine Source Type: research
ConclusionConsidering this fact that medical malpractice was confirmed in a large proportion of some preventable and important complications, therefore, results of this study can be used for developing educational programs for related healthcare providers to prevent those complications.
Source: Journal of Forensic and Legal Medicine - Category: Forensic Medicine Source Type: research
This article is protected by copyright. All rights reserved. PMID: 31140633 [PubMed - as supplied by publisher]
Source: The Ultrasound Review of Obstetrics and Gynecology - Category: Radiology Authors: Tags: Ultrasound Obstet Gynecol Source Type: research
Abstract We aimed to configure impaired/altered metabolomic profiles of pregnant women carrying Down syndrome (DS) fetuses. The study involved 21 and 32 pregnant women with DS and euploid fetuses, respectively, as determined by prenatal screening and diagnosis as part of an antenatal care program. Metabolomic analyses were carried out using gas chromatography-mass spectrometry (GC-MS) and liquid chromatography-quadrupole time-of-flight mass spectrometry (LC-qTOF-MS) methods. A total of 95 metabolites were identified. GC-MS analysis indicated that levels of 2-hydroxybutyric acid, benzoic acid, nonanoic acid, 3-hydr...
Source: Zeitschrift fur Geburtshilfe und Neonatologie - Category: Perinatology & Neonatology Authors: Tags: Z Geburtshilfe Neonatol Source Type: research
ConclusionsTargeted NIPT results suggest that MiSeq platform could be used for NIPT which would be an essential option particularly for laboratories with low sample flow. And, the NextSeq platform has easier wet lab process and also increased success rate in automatic reporting which is suitable for centers with high number of NIPT cases.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
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