Validation of Extensive Next-Generation Sequencing Method for Monogenic Disorder Analysis on Cell Free Fetal DNA: Noninvasive Prenatal Diagnosis

We present a method for the analysis of an extended group of gene variants associated with recessive and dominant autosomal disorders using next-generation sequencing. The proposed test should allow a complete analysis of common genetic disorders and pathogen-associated variants for diagnostic use. The analysis of cffDNA for single gene disorders may replace invasive prenatal diagnosis methods, associated with the risk of spontaneous abortion and psychological stress for patients. The proposed test should assess reproductive risk both for genetic family disorders and de novo occurrences of the disease. The application of this method to a case of beta thalassemia is also discussed.
Source: The Journal of Molecular Diagnostics - Category: Pathology Source Type: research

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The risk of giving birth to a child with birth defects may be slightly higher in women with bipolar disorder who take lithium compared with those who do not take lithium, suggests ameta-analysis inAJP in Advance. However, these slight risks may be outweighed by the dangers to mother and child of relapse of illness episodes (either depressive or manic), the authors of the analysis caution.“Pregnancy should not be considered an absolute contraindication to lithium prescription, given the relatively small increase in risk for any malformation or cardiac malformations, and given that such events, fortunately, remain rare...
Source: Psychiatr News - Category: Psychiatry Tags: ajp in advance bipolar disorder cardiac birth defect congenital defect lithium meta-analysis Michele Fornaro miscarriage relapse Source Type: research
Publication date: Available online 19 October 2019Source: Autoimmunity ReviewsAuthor(s): Fabrizio Conti, Laura Andreoli, Francesca Crisafulli, Silvia Mancuso, Simona Truglia, Maria G. TektonidouAbstractAntiphospholipid Syndrome (APS) is the commonest treatable cause of recurrent miscarriage and pharmacological treatment of pregnant patients with antiphospholipid antibodies (aPL) should aim at preventing obstetric complications and maternal thrombotic events. Conventional treatment for patients with an established diagnosis of obstetric APS (OAPS), generally resulting in over 70–80% successful pregnancies. Since serop...
Source: Autoimmunity Reviews - Category: Allergy & Immunology Source Type: research
This study aimed to characterize occupational health risk factors and chemical exposures among Asian nail  salon workers on the East Coast of the U.S. for informing the development of more effective, culturally appropriate interventions. We conducted a community-based participatory research (CBPR) study to characterize occupational health risks. A face-to-face, self-reported survey was performed, and personal exposure to volatile organic compounds (VOCs) was evaluated. Three VOCs, acetone, methyl methacrylate (MMA), and toluene, were measured using 3M 3500 organic vapor monitors. We collected data on 112 workers ...
Source: Journal of Community Health - Category: International Medicine & Public Health Source Type: research
CONCLUSIONS: Currently we are uncertain of an effect of the routine use of NSAIDs as co-treatments in infertile women undergoing assisted reproduction in order to improve ongoing pregnancy and miscarriage rates. This is based on available data from RCTs, where very low quality evidence showed that there is no single outcome measure demonstrating a benefit with their use. Further large, well-designed randomised placebo-controlled trials reporting on live births are required to clarify the exact role of NSAIDs. PMID: 31628860 [PubMed - as supplied by publisher]
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
A successful pregnancy requires a fine-tuned and highly regulated balance between immune activation and embryonic antigen tolerance. Since the fetus is semi-allogeneic, the maternal immune system should exert tolerant to the fetus while maintaining the defense against infection. The maternal-fetal interface consists of different immune cells, such as decidual natural killer (dNK) cells, macrophages, T cells, dendritic cells, B cells, and NKT cells. The interaction between immune cells, decidual stromal cells, and trophoblasts constitute a vast network of cellular connections. A cellular immunological imbalance may lead to ...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
lmi M Abstract OBJECTIVE: Uncertainty surrounds the risks of lithium use during pregnancy in women with bipolar disorder. The authors sought to provide a critical appraisal of the evidence related to the efficacy and safety of lithium treatment during the peripartum period, focusing on women with bipolar disorder and their offspring. METHODS: The authors conducted a systematic review and random-effects meta-analysis assessing case-control, cohort, and interventional studies reporting on the safety (primary outcome, any congenital anomaly) or efficacy (primary outcome, mood relapse prevention) of lithium treat...
Source: The American Journal of Psychiatry - Category: Psychiatry Authors: Tags: Am J Psychiatry Source Type: research
ConclusionsCD45, PSG1, and Prdx-2, were significantly dysregulated in the samples of ERSA and could become important biomarkers for the prediction and diagnosis of ERSA. Larger ‑scale studies are required to confirm the diagnostic value of these biomarkers.
Source: Clinical Proteomics - Category: Biochemistry Source Type: research
Authors: Christoforaki V, Zafeiriou Z, Daskalakis G, Katasos T, Siristatidis C Abstract In early pregnancy, miscarriage is the most common complication. The early identification of women at high risk for miscarriage could improve pregnancy outcomes. We investigated whether the first trimester neutrophil to lymphocyte ratio (NLR) could be used as a prognostic marker for miscarriage, in pregnancies after spontaneous conception. We retrospectively identified 129 pregnant women who had a first trimester full blood count available and known pregnancy outcome. First trimester NLR was calculated for each woman and mean NL...
Source: Journal of Obstetrics and Gynaecology - Category: OBGYN Tags: J Obstet Gynaecol Source Type: research
Doctors advise women to stop using marijuana if they are trying to get pregnant, as it may harm a developing baby. Boston University research suggests men's use may affect pregnancy too.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
Conditions:   Pneumonia;   Pleural Effusion;   Renal Colic;   Hepatic Colic or Cholecystitis;   Subcutaneous Abscess or Cyst;   Fracture of Long Bones;   Intra-uterine Pregnancy or Extra-uterine Pregnancy or Miscarriage;   Phlebitis Intervention:   Diagnostic Test: Ultrasound scan Sponsor:   Hospices Civils de Lyon Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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