Results 201 to 210 of about 113,215 (275)

Concordance of Chromosomal Microarray Analysis in Prenatal Diagnosis of Fetuses with Abnormal Ultrasonographic Soft Markers

, 2023
Yan Lü, Caihong Liu, Yan Ji
openalex   +2 more sources

Prenatal Diagnosis to Postnatal Outcomes of Saccular Forms of Closed Spina Dysraphism: A Single Center Retrospective Study

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe prenatal imaging findings and postnatal outcomes in fetuses diagnosed with saccular forms of closed spinal dysraphism (CSD). Methods This retrospective single‐centre study included fetuses diagnosed with non‐genetic, non‐syndromic CSD between January 2018 and June 2023.
Yada Kunpalin, Jennifer Quon, Abby Varghese, Michael Chua, Samer Maher, Abhaya V. Kulkarni, Tim Van Mieghem, Shiri Shinar, Elka Miller   +8 more
wiley   +1 more source

The use of chromosomal microarray for postnatal diagnosis: a retrospective analysis

, 2020
И.И. Романова, И.В. Канивец, Д.В. Пьянков, С. А. Коростелев   +3 more
openalex   +1 more source

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

Prenatal Diagnosis, EarlyView.
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

Chromosomal Microarray Analysis and Karyotype Analysis for Prenatal Diagnosis of Fetuses With Abnormal Ultrasound Soft Markers. [PDF]

J Clin Lab Anal
Liu L, She L, Zheng Z, Huang S, Wu H.
europepmc   +1 more source

Prenatal diagnosis of fetuses conceived by assisted reproductive technology by karyotyping and chromosomal microarray analysis. [PDF]

PeerJ, 2023
Guo H, Sheng R, Zhang X, Jin X, Gu W, Liu T, Dong H, Jia R.   +7 more
europepmc   +1 more source

Prenatal diagnosis of a 14-Mb 11p11.2-p13 deletion by chromosome microarray analysis in a pregnancy with fetal recombinant chromosome 11 syndrome of rec(11)del(11)(p11.2p13)ins(11)(q21p11.2p13) and maternal intrachromosomal insertion of ins(11)(q21p11.2p13)

Chih‐Ping Chen, Chen‐Yu Chen, Fang-Tzu Wu, Peih-Shan Wu, Yen-Ting Pan, Chen‐Chi Lee, Wenlin Chen, Wayseen Wang   +7 more
openalex   +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

Phase Determination and Demonstration of Parental Mosaicism of Intragenic <i>PRKN</i> Deletions Initially Identified by Chromosomal Microarray Analysis. [PDF]

Genes (Basel)
Choate LA, Hoffman F, Newman JH, Runke C, Webley M, Hoppman NL, Thorland EC.   +6 more
europepmc   +1 more source

Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in <i>RAD21</i> Detected through Very-High-Resolution Chromosomal Microarray Analysis. [PDF]

Genes (Basel), 2023
Abarca-Barriga HH, Punil Luciano R, Vásquez Sotomayor F.   +2 more
europepmc   +1 more source