Results 131 to 140 of about 55,696 (242)

Prenatal Diagnosis of Short Rib‐Polydactyly Syndrome (SRPS), DYNC2I1‐Related: Identification of a Novel Homozygous Missense Variant by Clinical Exome Sequencing

open access: yesClinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Short rib‐polydactyly syndrome (SRPS), with or without polydactyly, encompasses a range of autosomal recessive skeletal dysplasias characterized by shortened limbs, narrow thorax, and visceral abnormalities. Accurate genetic testing is crucial for the diagnosis and treatment of different clinical subtypes. This study investigates gene variants
Shiyao Xian   +7 more
wiley   +1 more source

Direct versus referred admission to the maternity hospital due to preeclampsia: Does it influence pregnancy outcomes?

open access: yesInternational Journal of Gynecology &Obstetrics, Volume 173, Issue 3, Page 1528-1536, June 2026.
Abstract Objectives This study describes maternal and perinatal outcomes of women with preeclampsia (PE) according to hospital admission characteristics: referral from lower complexity settings or directly admitted at the reference hospital. Methods This is a cross‐sectional study considering women with PE who were admitted for childbirth between ...
Juliana da‐Costa‐Santos   +13 more
wiley   +1 more source

Pregnancy Outcomes and Postnatal Health From Transferred Mosaic Embryos Following Preimplantation Genetic Testing for Aneuploidy

open access: yesiNew Medicine, Volume 2, Issue 2, June 2026.
This illustration synthesizes the methods and conclusion of this study, demonstrating that the transfer of mosaic embryos following reimplantation genetic testing for aneuploidy does not increase the risk to postnatal health. ABSTRACT Next‐generation sequencing (NGS) has increased the detection of mosaic embryos during preimplantation genetic testing ...
Lili Chen   +10 more
wiley   +1 more source

Aneuploidy of chromosome 8 promotes the mesenchymal lineage during cell fate transitions. [PDF]

open access: yesSci Adv
Liang C   +10 more
europepmc   +1 more source

Construction and Evaluation of a Ballistic Gelatin‐Based Simulator for Transcervical Chorionic Villus Sampling

open access: yesJournal of Ultrasound in Medicine, Volume 45, Issue 6, Page 1297-1306, June 2026.
Chorionic villus sampling (CVS) is a crucial prenatal diagnostic tool, but a declining number of procedures makes training a challenge. Here we describe a transcervical CVS simulator made from ballistic gelatin. Ninety‐three Maternal‐Fetal Medicine providers used the simulators during hands‐on workshops and completed surveys regarding their fidelity ...
Joshua F. Nitsche   +3 more
wiley   +1 more source

Optimization of Preimplantation Genome Profiling Supports Genomic Selection in Cattle. [PDF]

open access: yesCells
Yan S   +11 more
europepmc   +1 more source

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