Results 71 to 80 of about 11,570 (268)

Antenatal Ultrasound Findings in Spinal Muscular Atrophy Type 0

Molecular Genetics & Genomic Medicine
Introduction Spinal muscular atrophy (SMA), caused by pathogenic variants in the survival motor neuron (SMN) gene, is the most common genetic cause of mortality in children under the age of two.
Stephanie Stokes, Madeline Snipes, Lee D. Moore, Natalia Schlabritz‐Lutsevich, Vidalin Amy, James Maher III   +5 more
doaj   +1 more source

CRISPR Activation Reveals the Spliceogenicity of an Intronic NEB Variant in Fetuses With Arthrogryposis Multiplex Congenita 6

Clinical Genetics, EarlyView.
CRISPR activation of NEB in fibroblasts, followed by RNA‐sequencing, documents spliceogenic effects of a NEB intronic variant. The assay enabled variant reclassification as likely pathogenic, providing molecular diagnosis in fetuses with Arthrogryposis multiplex congenita 6.
Doriana Misceo, Thorkild Terkelsen, Sara Margrete Bøen Keim, Pål Marius Bjørnstad, Mari Elen Strand, Vivian Cecilie Orszagh, Uffe Birk Jensen, Eirik Frengen   +7 more
wiley   +1 more source

The Use of Ultrasound as a Potential Adjunct to Cell-Free Fetal DNA Screening for Aneuploidy at Weill Cornell Medical College, New York, USA

The Surgery Journal, 2018
Objective To evaluate the utility of ultrasound in identifying fetuses with uncommon chromosomal abnormalities that would be considered not detectable by cell-free fetal deoxyribonucleic acid (cfDNA).
Jessica Scholl, Stephen Chasen
doaj   +1 more source

Inescapable Decisions [PDF]

, 2006
The main ethical principle in prenatal testing is the autonomous decision of the pregnant woman concerned. However, recent developments in prenatal testing undermine this model.
Wieser, Bernhard
core  

FAM20B Related Skeletal Dysplasia: Expanding the Prenatal Phenotype

Clinical Genetics, EarlyView.
FAM20B encodes glycosaminoglycan xylosylkinase, a key enzyme in proteoglycan biosynthesis. We report compound heterozygous FAM20B variants causing severe, lethal skeletal dysplasia in three fetuses from two pregnancies. Disrupted glycosaminoglycan chain formation leads to abnormal cartilage and bone development, illustrating the essential role of ...
Arda Arduç, Linda C. Zuurbier, Merel C. van Maarle, Peter Lauffer, Jonathan I. M. L. Verbeke, Caroline J. Bax, Minke van Tuyl, Ron Hochstenbach, Eva Pajkrt   +8 more
wiley   +1 more source

Prediction of Placenta Abrubtion without Risk Factors [Risk Faktoru Olmadan Meydana Gelen Plasenta Dekolmani Onceden Ongorulebilir mi?]

Medicine Science, 2016
Many studies in the literature have shown the assosiation between serum analits of first and second trimester screening test with intra uterin growth retardation and abrubtio placenta.However these markers role in the predicting of placental abrubtion ...
Mehmet Kececioglu, Sezen Koseoglu, Aytekin Tokmak, Tugban Seckin Kececioglu, Burcu Kisa Karakaya, Ebru Ersoy, Yasemin Tasci   +6 more
doaj   +1 more source

Conjoined Parasitic Twins (Cephalo‐Thoracopagus Parasiticus) in a Free Ranging Northern Bat (Eptesicus nilssonii): A Micro‐CT Anatomic and Genetic Survey

Anatomia, Histologia, Embryologia, Volume 55, Issue 2, March 2026.
ABSTRACT The detailed anatomical situation of male stillborn cephalo‐thoracopagus twins in a wild ranging northern bat (Eptesicus nilssonii) is described by means of full body micro‐CT scans in high resolution with three‐dimensional computational reconstruction.
J. Meyer, V. N. Laine, J. van der Kooij, B. Richter, S. Handschuh, M. Gumpenberger   +5 more
wiley   +1 more source

The Impact of Inherited Thrombophilia on First Trimester Combined Aneuploidy Screening Parameters

Acta Medica Bulgarica
Objective. To investigate the impact of thrombophilia on pregnancy-associated plasma protein A (PAPP-A) and human chorionic gonadotropin (hCG) and the nuchal translucency (NT) during the first trimester of the pregnancy.
Kirovakov Z., Hinkova N., Konova E.
doaj   +1 more source

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 496-501, February 2026.
ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips, Hagar Mor‐Shaked, Oded Shamriz, Raz Somech, Rawan Abu Omar, Smadar Eventov‐Friedman, Noa Ofek‐Shlomai, Dvorah Zaguer, Tamar Harel   +8 more
wiley   +1 more source

Early Prenatal Sonographic Diagnosis of Lethal Arthrogryposis Multiplex Congenita: A Case Presentation

Gynecology Obstetrics & Reproductive Medicine, 2012
In this report, a 32 years old woman with increased nuchal translucency at 11th weeks of gestation and the diagnosis of Arthrogryposis Multiplex Congenita is demonstrated. After informing the family, chorion villus sampling (CVS) was performed.
Kazım Gezginç, Rengin Karataylı, Fatma Yazıcı, Tuba Tursun, Ali Acar   +4 more
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