Results 1 to 10 of about 51 (50)

Diagnostic yield using whole-genome sequencing and in-silico panel of 281 genes associated with non-immune hydrops fetalis in clinical setting. [PDF]

Ultrasound Obstet Gynecol, 2022
ABSTRACT Objective To investigate the diagnostic yield of clinical whole‐genome sequencing (WGS) in prenatally diagnosed non‐immune hydrops fetalis (NIHF). Methods This was a retrospective study of 23 fetuses with prenatally diagnosed NIHF, negative for trisomies and copy‐number variants, referred for analysis by WGS with an in‐silico panel of 281 ...
Westenius E, Sahlin E, Conner P, Lindstrand A, Iwarsson E.   +4 more
europepmc   +2 more sources

Diagnostic yield of exome sequencing in fetuses with multisystem malformations: systematic review and meta‐analysis

Ultrasound in Obstetrics &Gynecology, Volume 59, Issue 6, Page 715-722, June 2022., 2022
ABSTRACT Objective To determine the diagnostic yield of exome sequencing (ES) above that of chromosomal microarray analysis (CMA) or karyotyping in fetuses with multisystem structural anomalies (at least two major anomalies in different anatomical systems). Method This was a systematic review conducted in accordance with PRISMA guidelines.
M. Pauta, R. J. Martinez‐Portilla, A. Borrell   +2 more
wiley   +1 more source

Ultrasound features in early pregnancy for predicting abnormal karyotype in first‐trimester miscarriage

Ultrasound in Obstetrics &Gynecology, Volume 67, Issue 3, Page 376-384, March 2026.
ABSTRACT Objective To investigate whether combining abnormal morphological features observed on ultrasound in live pregnancies that ended in a first‐trimester miscarriage can predict an abnormal karyotype. Methods This retrospective observational cohort study was conducted at the early‐pregnancy assessment unit at University College London Hospital ...
T. Setty, S. L. Kastora, T. Tellum, J. Farren, E. Jauniaux, D. Jurkovic   +5 more
wiley   +1 more source

Combined first‐trimester screening and invasive diagnostics for atypical chromosomal aberrations: Danish nationwide study of prenatal profiles and detection compared with NIPT

Ultrasound in Obstetrics &Gynecology, Volume 64, Issue 4, Page 470-479, October 2024.
ABSTRACT Objectives Our aim was to examine the prenatal profiles of pregnancies affected by an atypical chromosomal aberration, focusing on pathogenic copy‐number variants (pCNVs). We also wanted to quantify the performance of combined first‐trimester screening (cFTS) and a second‐trimester anomaly scan in detecting these aberrations. Finally, we aimed
K. Gadsbøll, I. Vogel, S. E. Kristensen, L. H. Pedersen, J. Hyett, O. B. Petersen, The Danish Cytogenetic Central Register study group   +6 more
wiley   +1 more source

Diagnostic yield of exome sequencing in prenatal agenesis of corpus callosum: systematic review and meta‐analysis

Ultrasound in Obstetrics &Gynecology, Volume 63, Issue 3, Page 312-320, March 2024.
ABSTRACT Objectives To determine the incremental diagnostic yield of exome sequencing (ES) after negative chromosomal microarray analysis (CMA) in cases of prenatally diagnosed agenesis of the corpus callosum (ACC) and to identify the associated genes and variants.
H. J. Mustafa, J. P. Barbera, E. V. Sambatur, G. Pagani, Y. Yaron, C. D. Baptiste, R. J. Wapner, C. J. Brewer, A. Khalil   +8 more
wiley   +1 more source

Incremental yield of whole‐genome sequencing over chromosomal microarray analysis and exome sequencing for congenital anomalies in prenatal period and infancy: systematic review and meta‐analysis

Ultrasound in Obstetrics &Gynecology, Volume 63, Issue 1, Page 15-23, January 2024.
ABSTRACT Objectives First, to determine the incremental yield of whole‐genome sequencing (WGS) over quantitative fluorescence polymerase chain reaction (QF‐PCR)/chromosomal microarray analysis (CMA) with and without exome sequencing (ES) in fetuses, neonates and infants with a congenital anomaly that was or could have been detected on prenatal ...
N. Shreeve, C. Sproule, K. W. Choy, Z. Dong, K. Gajewska‐Knapik, M. D. Kilby, F. Mone   +6 more
wiley   +1 more source

Prenatal diagnosis of Freeman-Sheldon syndrome using ultrasound and genetic testing. Case report [PDF]

Rev Colomb Obstet Ginecol, 2023
Annicchiarico-López W, Peña-Pardo LX, Miranda-Quintero JE.   +2 more
europepmc   +1 more source

[Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness]. [PDF]

Rev Neurol, 2023
Arroyo-Carrera I, Solo de Zaldívar-Tristancho M, García Navas-Núñez VD, Ramajo-Polo A, Gutiérrez-Agujetas M.   +4 more
europepmc   +1 more source

[Referral criteria to clinical genetics from primary care: Consensus document]. [PDF]

Aten Primaria, 2022
Ejarque Doménech I, Marín Reina P, García-Miñaur Rica S, Chirivella González I, Martínez Martínez MT, García Rodríguez AM, Álvarez de Andrés S, Tellería Orriols JJ.   +7 more
europepmc   +1 more source

Spanish translation of the International Glossary on Infertility and Fertility Care, 2017. [PDF]

JBRA Assist Reprod, 2023
Herrero MB, Marín-Briggiler CI, Alaluf MG, Martinez G, Estofan GM.   +4 more
europepmc   +1 more source