Results 71 to 80 of about 7,094 (160)
The Journal of Physiology, EarlyView.Abstract figure legend We investigated how environmental hypoxia and genetic adaptation to high altitudes jointly impact the development of the placental exchange surface in ways that might protect fetal growth potential. We used wild‐derived, lab‐born North American deer mice (Peromyscus maniculatus) from low‐elevation and high‐elevation environments (
Kathryn Wilsterman +6 more
wiley +1 more source
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
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 +13 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 348-352, February 2026.ABSTRACT Genome‐wide non‐invasive prenatal testing (NIPT) is a powerful tool for prenatal detection of the common aneuploidies causing Down‐, Edwards‐, and Patau syndrome. Its genome‐wide reach also enables the detection of unbalanced structural chromosomal abnormalities.
Servi J. C. Stevens +9 more
wiley +1 more source
Journal of the Formosan Medical Association, 2019 Purpose: To assess the complication rates following chorionic villus sampling (CVS) and midtrimester amniocentesis in Taiwan. Methods: This is a national registry-based cohort study from Taiwan.
Wen-Wei Hsu +8 more
doaj +1 more source
Identification of Novel Mutation in the ABCA12 Gene Causing Harlequin Ichthyosis
Clinical Case Reports, Volume 14, Issue 2, February 2026.ABSTRACT Harlequin ichthyosis (HI) is an uncommon and extremely severe hereditary condition that primarily affects the skin. Infants born with this disorder display dense skin and prominent diamond‐shaped plates that cover a significant portion of their bodies.
Nadia Soltani +5 more
wiley +1 more source
genesis, Volume 64, Issue 1, February 2026.ABSTRACT To determine whether TXNDC15 variation causes Meckel–Gruber syndrome (MKS), we assessed the pathogenicity of the frameshift variant c.560delA. A CRISPR–Cas9 generated mouse model carrying the equivalent Txndc15 c.512delA mutation was analyzed at embryonic day 15.5.
Yang Liu +10 more
wiley +1 more source
Journal of Ultrasound in Medicine, Volume 45, Issue 2, Page 251-257, February 2026.The aim is to search for quantitative indicators of ultrasound and clinical features that suggest tubal pregnancy rupture, and to identify independent risk factors for tubal pregnancy rupture through multiple regression analysis. Retrospective analysis of 166 cases of tubal pregnancy was confirmed by laparoscopy, including 97 cases of unruptured type ...
Shuang Gui +4 more
wiley +1 more source
Impact of chorionic villus sampling volume on time to result and pregnancy management
The Journal of Maternal-Fetal & Neonatal MedicineObjective To evaluate the association between low-volume chorionic villus sampling (CVS) and delay in patient care.Methods This is a retrospective cohort study of patients who underwent CVS from 8/19/2019 to 12/31/2022 in a single center.
Emily Lee +3 more
doaj +1 more source
Prenatal Diagnosis, Volume 46, Issue 2, Page 295-305, February 2026.ABSTRACT Objective To develop a consensus‐based framework to support individualized prenatal counselling for congenital diaphragmatic hernia. Method A RAND‐modified Delphi study was conducted with an expert panel of parents (n = 10) and healthcare professionals (n = 17) working in Dutch or Flemish CDH European Reference Network (ERN) centres.
Leonie Lof +12 more
wiley +1 more source