Results 91 to 100 of about 2,246,140 (208)
Prenatal Diagnosis of Sandhoff Disease by Enzyme Analysis of Chorionic Villus Sample
Gynecology Obstetrics & Reproductive Medicine, 2008 OBJECTIVE AND STUDY DESIGN: The prenatal diagnosis of Sandhoff disease (SD) was performed in 14 fetuses of families by the analysis of chorionic villus sample obtained at 11-14 weeks of gestation. The diagnosis was based on the absence or near-absence of
Asuman Özkara +5 more
doaj
DiagnosticsBackground/Objective: Prenatal cytogenetic testing is essential for pregnant women who are at high risk of having a child with a chromosomal abnormality.
Abdullatif Bakır +5 more
doaj +1 more source
Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1
Clinical Genetics, Volume 110, Issue 5, Page 574-583, November 2026.Integrating trio‐based genomic sequencing with detailed clinical evaluation across seven French–Vietnamese heterotaxy cases alongside a review of 108 published patients reveals strong genotype–phenotype correlations. Variants in DNAH9, PKD1L1, MMP21, and GDF1 define a broad spectrum from isolated situs inversus to complex conotruncal heart defects and ...
Thi Bich Tuyen Ho +23 more
wiley +1 more source
Costs and Benefits of Prenatal Screening For Cystic Fibrosis [PDF]
Newly-developed genetic tests based on restriction fragment length polymorphisms (RFLPs) promise to facilitate the early detection of genetic diseases. Several such tests are now available for the prenatal detection of cystic fibrosis (CF), a common and ...
Alan M. Garber, Joseph P. Fenerty
core
Frontiers in GeneticsBackgroundAdolescent pregnancies present unique challenges in prenatal diagnostics, yet data on the prevalence and types of chromosomal abnormalities in this population remain limited.ObjectiveThis study aimed to assess the prevalence and spectrum of ...
Jakub Staniczek +24 more
doaj +1 more source
The FASEB Journal, Volume 40, Issue 19, 15 October 2026.This graphical abstract summarizes gestational changes in placental iron homeostasis and their relationship to ferroptosis‐associated molecular features. In trophoblast cells, experimentally induced sublethal iron‐dependent redox perturbation modulates migration and invasion without causing overt ferroptotic cell death, whereas iron chelation or ...
Wenxin Jiang +7 more
wiley +1 more source
EClinicalMedicineSummary: Prenatal and intrapartum invasive tests are possible mechanisms of mother to child transmission (MTCT) of hepatitis B virus (HBV). The viral activity can affect the MTCT risk after invasive tests, but the evidence is scarce.
Ka Wang Cheung +5 more
doaj +1 more source
A Guide to Enzymatic Targeted Methylation Sequencing Bioinformatics Workflow: Best Practices
Current Protocols, Volume 6, Issue 10, October 2026.Abstract We present a best‐practices protocol for targeted DNA methylation sequencing analysis that integrates both bisulfite‐ and enzymatic‐conversion approaches using Twist Bioscience technology. Building on established tools and vendor‐recommended workflows, this protocol provides a standardized, fully reproducible framework that addresses current ...
Vitória Rodrigues Guimarães Alves +12 more
wiley +1 more source
Chorionic villus sampling: what are the risks?
, 1995 Once again, chorionic villus sampling (CVS), or placental biopsy as it is sometimes known, has become the subject of public interest. CVS offers a rapid diagnosis for women whose babies are at risk of a genetic or chromosomal abnormality, at earlier ...
David Churchill, Manjit Obbrai
core +1 more source
EHA Guidelines on the management of children and adults with hemoglobin SC disease
HemaSphere, Volume 10, Issue 10, October 2026.Abstract HbSC disease is the second most common type of sickle cell disease (SCD) in populations of African origin. Although it is often grouped together with other types of SCD, particularly sickle cell anemia (HbSS), it has unique pathophysiology and a different spectrum of laboratory and clinical features.
David C. Rees +15 more
wiley +1 more source