Results 101 to 110 of about 4,572,851 (176)

Prenatal and preimplantation genetic testing for monogenic kidney disorders [PDF]

In recent years, advances in genetic sequencing techniques and in the analysis of sequencing data have significantly improved our ability to diagnose genetic kidney diseases.
Knoers, Nine V.A.M.
core   +1 more source

Correlation study of male semen parameters and embryo aneuploidy in preimplantation genetic testing for aneuploidy

, 2023
  DAS statement for Frontiers. Manuscript title: Correlation study of male semen parameters and embryo aneuploidy in preimplantation genetic testing for aneuploidy Manuscript ID: 1072176 Authors: Hongyi Yang, Yan Liu, Wenbin Niu, Zilan Yang, Yang Wang ...
Hongyi Yang (14467323)
core   +1 more source

Prenatal Diagnosis of Recurrent Fetal Intracranial Hemorrhage and a Maternally Inherited COL4A1 Variant of Uncertain Significance: A Case Report With Maternal Reverse Phenotyping

Clinical Case Reports, Volume 14, Issue 11, November 2026.
ABSTRACT A 33‐year‐old woman with two consecutive pregnancies affected by fetal left periventricular germinal matrix hemorrhage (Grade IV) and progressive ventriculomegaly underwent trio whole‐exome sequencing. A heterozygous COL4A1 c.4249G>C (p.Gly1417Arg) variant, classified as a variant of uncertain significance, was identified in the fetus of the ...
Wei Shi, Hongjing Xu, Caihong Pu, Yuanzhong Liang, Ting Zhao, Xueli Wang, Zhenxing Liu, Chunhua Zhang, Ting Li, Fengquan He   +9 more
wiley   +1 more source

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source

Preimplantation Genetic Screening in In Vitro Fertilization (IVF): A Comprehensive Review of Ethical, Clinical, and Technological Developments [PDF]

Journal of Medical and Life Science
Preimplantation Genetic Testing for Aneuploidy (PGT-A) and Preimplantation Genetic Screening (PGS) have become indispensable tools in In Vitro Fertilization (IVF) to increase pregnancy rates and enhance embryo choice.
Zina Al-Obaidi, Nabaa Al-Nawab, Mustafa Hadi, Ahmed Flayyih Hasan   +3 more
doaj   +1 more source

Prenatal Microarray Incidentally Diagnoses a Novel Inherited NF1 Intragenic Duplication

Molecular Genetics &Genomic Medicine, Volume 14, Issue 11, November 2026.
Incidental molecular diagnosis of Neurofibromatosis Type 1 when prenatal chromosome microarray detected a duplication encompassing exons 2–36 of the NF1 gene. Pathogenicity was confirmed by RNA analysis. This case identifies a novel pathogenic NF1 duplication and highlights the importance of clinical genetics referral, pre‐test counseling, and informed
Rhiannon Sandow, Gunjan Garg
wiley   +1 more source

Preimplantation genetic screening

, 2017
Preimplantation genetic diagnosis was first successfully performed in 1989 as an alternative to prenatal diagnosis for couples at risk of transmitting a genetic or chromosomal abnormality, such as cystic fibrosis, to their child.
Joyce C Harper
core   +1 more source

Preimplantation genetic testing for KIT-associated pigmentary monogenic diseases

Frontiers in Medicine
This study addresses the genetic diagnosis and reproductive intervention for families affected by KIT-related pigmentary disorders, which can manifest as either piebaldism due to loss-of-function variants or hyperpigmentation due to gain-of-function ...
Zhou Zhou, Zhou Zhou, Shanshan Liang, Shanshan Liang, Ningxin Qin, Ningxin Qin, Jianzhi Yang, Jianzhi Yang, Mengmeng Tian, Mengmeng Tian, Xiaoming Teng, Xiaoming Teng, Junyu Zhang, Junyu Zhang   +13 more
doaj   +1 more source

Mode of conception and pregnancy outcomes at term among low‐risk nulliparous patients

Pregnancy, Volume 2, Issue 6, November 2026.
Abstract Introduction Available data suggest that assisted reproductive technology (ART) is associated with adverse perinatal outcomes; however, prior studies have been confounded by multifetal gestations, preterm birth, and patient medical comorbidities.
Gabriella D. Cozzi‐Glaser, Christina T. Blanchard, Lauren A. Pace, Lynda Ugwu, Sukhkamal Campbell, Alan T. Tita, Rachel G. Sinkey   +6 more
wiley   +1 more source

Better to Be Lucky Than Good: How Clinicians and Patients Frame Medical Outcomes

Sociology of Health &Illness, Volume 48, Issue 8, November 2026.
ABSTRACT Notions of good or bad luck sit uncomfortably in contemporary medical practice defined by efforts to control life through biomedical knowledge and skilled expertise. Yet, talk about luck is common in healthcare to explain medical courses of action.
Eliza Brown, Stefan Timmermans
wiley   +1 more source