Results 71 to 80 of about 2,656 (193)

Diagnóstico pré-natal das genodermatoses Prenatal diagnosis of genodermatoses

Anais Brasileiros de Dermatologia, 2007
O diagnóstico pré-natal está indicado para algumas genodermatoses graves, como a epidermólise bolhosa distrófica recessiva e a epidermólise bolhosa juncional. A biópsia de pele fetal foi introduzida em 1980, mas não pode ser realizada antes da 15a semana
Maria Carolina de Abreu Sampaio, Zilda Najjar Prado de Oliveira, Javier Miguelez   +2 more
doaj   +1 more source

Molecular Testing in Sickle Cell Disease: From Newborn Screening to Transfusion Care

International Journal of Laboratory Hematology, Volume 48, Issue 2, Page 295-304, April 2026.
ABSTRACT Sickle cell disease (SCD) is one of the most frequent monogenic diseases worldwide and a highly heterogeneous and complex disease. SCD care carries several challenges. This includes early and accurate diagnosis as well as optimal red blood cell transfusion matching in this population carrying a high risk of alloimmunization.
Thomas Pincez, Yves D. Pastore
wiley   +1 more source

Complicações materno-fetais da biópsia de vilo corial: experiência de um centro especializado do Nordeste do Brasil Fetal and maternal complications of chorionic villus sampling: results from a specialized center in the Northeast of Brazil

Revista Brasileira de Ginecologia e Obstetrícia, 2007
OBJETIVO: avaliar complicações maternas e fetais após realização de biópsia de vilo corial (BVC) para diagnóstico pré-natal de alterações genéticas, na cidade de Salvador (BA).
Antonio Carlos Vieira Lopes, Kleber Pimentel, Alessandro de Moura Almeida, Eduardo Costa Matos, Maria Betânia Pereira Toralles   +4 more
doaj   +1 more source

Prenatal Diagnosis of Renal Anomalies Associated With a Novel Causative Variant in RAP1B Gene

Clinical Case Reports, Volume 14, Issue 3, March 2026.
A case of prenatal renal cystic disease and unilateral renal agenesis is reported. Molecular investigations including TRIO next‐generation sequencing analysis using the Clinical exome sequencing protocol identified the c.179G>T, p.(Gly60Val) “de novo” variant in a heterozygous state in the RAP1B gene.
Adalgisa Cordisco, Stefania Magliulo, Chiara Di Marco, Elisa Fortuna, Alessandra Terracciano, Claudio Meloni   +5 more
wiley   +1 more source

Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases

Molecular Cytogenetics
Mosaic chromosomal anomalies arising in the product of conception and the final fetal chromosomal arrangement are expression of complex biological mechanisms. The rescue of unbalanced chromosome with selection of the most viable cell line/s in the embryo
Giulia Vitetta, Laura Desiderio, Ilaria Baccolini, Vera Uliana, Giulia Lanzoni, Tullio Ghi, Gianluigi Pilu, Enrico Ambrosini, Patrizia Caggiati, Valeria Barili, Anna Carmela Trotta, Maria Rosaria Liuti, Elisabetta Malpezzi, Maria Carla Pittalis, Antonio Percesepe   +14 more
doaj   +1 more source

Components of an effective large scale program for the prevention of inherited hemoglobin disorders; the paradigm of Greece

Thalassemia Reports, 2012
Large scale prevention programs for Thalassemia major or Sickle cell disease have already been set up in several places with high frequency of the deleterious genes.
D. Loukopoulos, E. Voskaridou, M. Tsalkani   +2 more
doaj   +1 more source

Sex Ratios at Birth Following Non‐Invasive Prenatal Testing in Victoria, Australia

Prenatal Diagnosis, Volume 46, Issue 3, Page 406-416, March 2026.
ABSTRACT Objective Non‐invasive prenatal testing (NIPT) can determine fetal chromosomal sex early in pregnancy, raising the possibility of sex selection. However, current evidence regarding this practice is limited. Our objective was to assess the sex ratio at birth (SRB) among a cohort of infants born following NIPT from a single laboratory provider ...
Hilary Bowman‐Smart, Christopher Gyngell, Lisa Hui, Cara Mand, Mark D. Pertile, Julian Savulescu, Martin B. Delatycki   +6 more
wiley   +1 more source

Multiple pregnancy with complete hydatidiform mole and coexisting normal fetus: systematic review and meta‐analysis of clinical outcomes from non‐randomized studies

Ultrasound in Obstetrics &Gynecology, Volume 67, Issue 3, Page 272-282, March 2026.
ABSTRACT Objective Complete hydatidiform mole and coexisting normal fetus (CHMCF) is a rare condition for which there is significant heterogeneity in diagnosis, counseling and management of complications. The objective of this study was to summarize the prevalence of clinical outcomes in reported cases of CHMCF.
N. Salmeri, A. Pizzetti, E. Grassi, R. Cioffi, G. Mangili, M. Seckl, A. Sotiriadis, M. Candiani, P. I. Cavoretto   +8 more
wiley   +1 more source

Early versus late termination for fetal anomalies: Women's perspectives and psychological impact in a mixed methods study

Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 3, Page 444-454, March 2026.
This mixed method study evaluated the psychological impact and perspectives associated with early and late termination of pregnancy (TOP). Early TOP due to fetal anomalies is associated with a lower psychological impact compared to late TOP. Pregnancy termination has a substantial emotional impact regardless of gestational age.
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, Volume 109, Issue 3, Page 529-538, March 2026.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source