Results 291 to 300 of about 95,739 (341)

Antenatal Ultrasound Findings in Spinal Muscular Atrophy Type 0

Molecular Genetics &Genomic Medicine, Volume 13, Issue 9, September 2025.
Antenatal ultrasound shows a distinct pattern of findings in fetuses affected by Spinal Muscular Atrophy type 0. The findings of cardiac anomalies, increased nuchal translucency in the first trimester, and an increased nuchal skin fold thickness in the second trimester should prompt screening for SMA.
Stephanie Stokes, Madeline Snipes, Lee D. Moore, Natalia Schlabritz‐Lutsevich, Vidalin Amy, James Maher III   +5 more
wiley   +1 more source

Noninvasive prenatal testing: an overview. [PDF]

Aust Prescr
Poulton A, Hui L.
europepmc   +1 more source

46,XY/46,XY Chimerism: Prenatal Presentation and Postnatal Outcome

Molecular Genetics &Genomic Medicine, Volume 13, Issue 9, September 2025.
This study reports a rare case of same‐sex chimerism identified incidentally during prenatal screening, highlighting the importance of comprehensive genetic testing. The findings underscore the complexity of chimerism diagnosis and emphasize the need for increased awareness and research in this field.
Wafa Baqri, Elaine S. Goh, Anne Berndl, Judy Seesahai, Martin Skidmore, Andrea K. Vaags, Mariana Kekis   +6 more
wiley   +1 more source

Strain background interacts with chromosome 7 aneuploidy to determine commensal and virulence phenotypes in Candida albicans. [PDF]

PLoS Genet
Mishra A, Solis NV, Dietz SM, Crouch AL, Filler SG, Anderson MZ.   +5 more
europepmc   +1 more source

Screening Positive for Rare Autosomal Aneuploidies Increases Frequency of Adverse Pregnancy Outcomes and Alters Clinical Management

Prenatal Diagnosis, Volume 45, Issue 10, Page 1265-1276, September 2025.
ABSTRACT Objective Outcomes in pregnancies with rare autosomal aneuploidies (RAAs) are poorly characterized, with most studies having small sample sizes. Here, we describe outcomes and management in a large cohort of pregnancies that screened positive for an RAA (RAA+).
Devika Chawla, D. Claire Miller, Summer Pierson, Lyuba Popadic, Francesca Devine, Dallas Reed, Katherine Johansen Taber   +6 more
wiley   +1 more source

In situ phenotypic and karyotypic co-detection of aneuploid TCs and TECs in cytological specimens with abnormal cervical screening results. [PDF]

BMC Cancer
Wang Y, Lin AY, Wang DD, Lin PP, Zhou X, Yang Y, Zhu Y.   +6 more
europepmc   +1 more source

Current Controversies in Prenatal Diagnosis—Conference Debate 2024: All Fetuses Undergoing Fetal Therapy Should Have Exome Sequencing

Prenatal Diagnosis, Volume 45, Issue 10, Page 1351-1358, September 2025.
ABSTRACT This manuscript summarises the debate held at the 2024 annual meeting of The International Society for Prenatal Diagnosis (ISPD). Experts discussed whether all fetuses undergoing fetal therapy should undergo exome sequencing. Arguments in favor included that, with increasing experience and better clinical availability, exome sequencing can ...
Teresa N. Sparks, Rogelio Cruz Martinez, Tim Van Mieghem   +2 more
wiley   +1 more source

Preimplantation Genetic Testing for Aneuploidy Versus Morphological Selection in Women Aged 35-42: Results of a Pilot Randomized Controlled Trial. [PDF]

J Clin Med
Beebeejaun Y, Bakalova D, Mania A, Copeland T, Sarris I, Nicolaides K, Capalbo A, Sunkara SK.   +7 more
europepmc   +1 more source

International Society for Prenatal Diagnosis 2024 Debate 3—Cytogenetics Is a Dinosaur and Should Be Replaced by Molecular Technologies

Prenatal Diagnosis, Volume 45, Issue 10, Page 1334-1342, September 2025.
ABSTRACT Cytogenetic technologies such as G‐banding chromosome and FISH analyses have long been the gold standard diagnostic test in prenatal genetic testing. However, unbiased next‐generation sequencing technologies such as fetal exome or genome sequencing (ES/GS) are becoming widely accessible and increasingly utilized, particularly for fetuses with ...
Yassmine M. N. Akkari, Michael E. Talkowski, Amy M. Breman   +2 more
wiley   +1 more source