Results 191 to 200 of about 97,595 (299)

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 623-635, May 2026.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Concurrent 12p trisomy and 4q34.2-q35.2 deletion detected by WES-CNV: Case report. [PDF]

Medicine (Baltimore)
Sun X, Lin S, Wang W, Qi Y, Jiang K.
europepmc   +1 more source

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 771-779, May 2026.
ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner, Adi Botvinik, Adi Mory, Adi Reches, Karina Krajden Haratz, Britannia Morgan Fleming, Hagit Baris Feldman, Lena Sagi‐Dain, Mordechai Shohat, Rayna Joy Goldstein, Yuval Yaron, Michal Levy   +11 more
wiley   +1 more source

Long-term gastrointestinal sequelae in patients who underwent surgery for congenital duodenal obstruction. [PDF]

Pediatr Surg Int
Pijpers AGH, Hogerwerf M, Van den Bunder FAIM, Koppen IJN, Van Heurn ELW, Gorter RR, Musters GD, Derikx JPM.   +7 more
europepmc   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 849-861, May 2026.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Increased Nuchal Translucency in Fetuses With a Crown-Rump Length of < 45 mm: Clinical Outcomes and Diagnostic Implications. [PDF]

Cureus
Kreiselmaier P, Papadopolous M, Ritgen J, Degenhardt J.   +3 more
europepmc   +1 more source

Trisomies

, 2008
Frank Gaillard, Liz Silverstone, Daniel Bell   +2 more
openaire   +1 more source

Moderate Diagnostic Yield of Exome Sequencing in Fetal Growth Restriction: Retrospective Insights

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 832-841, May 2026.
ABSTRACT Objective To determine whether invasive genetic testing should be systematically proposed in cases of FGR. Methods Descriptive retrospective study of 159 FGR cases (defined by an estimated fetal growth < 3rd percentile, regardless of Doppler findings) managed at the Toulouse Fetal Medicine Center (TFMC) during 2022–2023.
Maud Langeois, Louise Paret, Jacqueline Aziza, Paul Guerby, Christophe Vayssière, Charlotte Dubucs   +5 more
wiley   +1 more source

Use of anti-amyloid-β monoclonal antibodies in persons with Down syndrome Alzheimer's disease. [PDF]

Alzheimers Dement
Farrell C, Saini F, Beidas MM, Ryan NS, Strydom A, Wiseman FK.   +5 more
europepmc   +1 more source