The management of haemoglobinopathies in pregnancy and childbirth
AbstractKey content
The haemoglobinopathies encompass a complex collection of red cell disorders that are responsible for considerable morbidity and mortality in women and their unborn children.
Sickle cell disease and the thalassaemias are the commonest haemoglobinopathies encountered in UK clinical practice.
A consistent standard of care will enable women with haemoglobinopathies to have a pregnancy that is as safe as possible, with good outcomes and minimal long-term effects on their health and the health of their babies.
The most effective way to deliver a consistent standard of care for these women is via the multidis...
Source: The Obstetrician and Gynaecologist - March 30, 2022 Category: OBGYN Authors: Lucy A Jackson,
Quentin A Hill,
Etienne Ciantar Tags: REVIEW Source Type: research
Placental Inflammasome mRNA Levels Differ by Mode of Delivery and Fetal Sex
In conclusion, placental inflammasome activation differs with respect to mode of delivery and neonatal sex. Its assessment may identify babies who have been exposed to aberrant inflammation at birth that may compromise their development and long-term health and wellbeing. (Source: Frontiers in Immunology)
Source: Frontiers in Immunology - March 25, 2022 Category: Allergy & Immunology Source Type: research
Noninvasive prenatal testing of beta-thalassemia for common Pakistani mutations: a comparative study using cell-free fetal DNA from maternal plasma and chorionic villus sampling
CONCLUSION: NIPT using maternal cf-DNA by allele-specific ARMS RT-PCR can be feasible to screen paternal inherited mutant alleles to rule out pregnant women from invasive procedures where the test would be negative for paternal inheritance. However, a low amount of fetal DNA in maternal plasma is a limiting factor and required further improvement to enrich fetal cf-DNA for complete concordance with conventional IPT.PMID:35287566 | DOI:10.1080/16078454.2022.2045052 (Source: Hematology)
Source: Hematology - March 15, 2022 Category: Hematology Authors: Muhammad Afzal Muhammad Abdul Naeem Suhaib Ahmed Nayyar Amin Amena Rahim Manazza Munawar Mansoor Ishaq Ali Rathore K Maria Source Type: research
The management of haemoglobinopathies in pregnancy and childbirth
AbstractKey content
The haemoglobinopathies encompass a complex collection of red cell disorders that are responsible for considerable morbidity and mortality in women and their unborn children.
Sickle cell disease and the thalassaemias are the commonest haemoglobinopathies encountered in UK clinical practice.
A consistent standard of care will enable women with haemoglobinopathies to have a pregnancy that is as safe as possible, with good outcomes and minimal long-term effects on their health and the health of their babies.
The most effective way to deliver a consistent standard of care for these women is via the multidis...
Source: The Obstetrician and Gynaecologist - March 13, 2022 Category: OBGYN Authors: Lucy A Jackson,
Quentin A Hill,
Etienne Ciantar Tags: REVIEW Source Type: research
Does chorionic villus sampling protect against fetal loss in twin pregnancy at high background risk of spontaneous miscarriage?
Ultrasound Obstet Gynecol. 2022 Feb;59(2):273-274. doi: 10.1002/uog.24848.NO ABSTRACTPMID:35104928 | DOI:10.1002/uog.24848 (Source: The Ultrasound Review of Obstetrics and Gynecology)
Source: The Ultrasound Review of Obstetrics and Gynecology - February 1, 2022 Category: Radiology Authors: Y-L Li D-Z Li Source Type: research
Does chorionic villus sampling protect against fetal loss in twin pregnancy at high background risk of spontaneous miscarriage?
Ultrasound Obstet Gynecol. 2022 Feb;59(2):273-274. doi: 10.1002/uog.24848.NO ABSTRACTPMID:35104928 | DOI:10.1002/uog.24848 (Source: The Ultrasound Review of Obstetrics and Gynecology)
Source: The Ultrasound Review of Obstetrics and Gynecology - February 1, 2022 Category: Radiology Authors: Y-L Li D-Z Li Source Type: research
Complementary Approaches in Fetal Genetic Diagnosis: Decision-Making Process and Alternative Choices for Clinicians in a Secondary Health Care Institution
CONCLUSIONS: Abnormal genetic results showed a significant increase in cases of thickened nuchal translucency accompanied by USG abnormalities. Although culture failure rates in the CVS were higher, none of the cases remained inconclusive. Centers with prenatal invasive genetic diagnosis should offer a wide spectrum of genetic tests by medical genetics specialists.PMID:34978258 | DOI:10.1080/15513815.2021.2022818 (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - January 3, 2022 Category: Pathology Authors: Hilmi Bolat Hamide Bet ül Gerik Çelebi Ertu ğrul Karahanoğlu Source Type: research
Haplotype-Based Noninvasive Prenatal Diagnosis of 21 Families With Duchenne Muscular Dystrophy: Real-World Clinical Data in China
This study aimed to evaluate the detection performance of haplotype-based NIPD of DMD in a real clinical environment. Twenty-one DMD families at 7–12 weeks of gestation were prospectively recruited. DNA libraries of cell-free DNA from the pregnant and genomic DNA from family members were captured using a custom assay for the enrichment of DMD gene exons and spanning single-nucleotide polymorphisms, followed by next-generation sequencing. Parental haplotype phasing was based on family linkage analysis, and fetal genotyping was inferred using the Bayes factor through target maternal plasma sequencing. Finally, the entire ...
Source: Frontiers in Genetics - December 14, 2021 Category: Genetics & Stem Cells Source Type: research
Risk of fetal loss after chorionic villus sampling in twin pregnancies derived from propensity score matching analysis
CONCLUSIONS: After accounting for the risk factors that lead to both CVS and spontaneous fetal loss and confining the analysis to pregnancies at lower prior risk, CVS seems to increase the risk of fetal loss by about 3.5% above the patient's background-risk. This article is protected by copyright. All rights reserved.PMID:34845786 | DOI:10.1002/uog.24826 (Source: The Ultrasound Review of Obstetrics and Gynecology)
Source: The Ultrasound Review of Obstetrics and Gynecology - November 30, 2021 Category: Radiology Authors: M M Gil M Rodr íguez-Fernández T Elger R Akolekar A Syngelaki C De Paco Matallana F S Molina M Gallardo Arozena P Chaveeva N Persico V Accurti K O Kagan N Prodan J Cruz K H Nicolaides Source Type: research
