Results 191 to 200 of about 2,712,368 (347)

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

open access: yesPrenatal Diagnosis, EarlyView.
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   +11 more
wiley   +1 more source

The Prediction of Pre‐Eclampsia Using Low Fetal Fraction in a Machine Learning Model

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the association between low fetal fraction (FF) in non‐invasive prenatal testing (NIPT) and pregnancy complications or adverse pregnancy outcomes. Methods Sixty‐four pregnant women undergoing NIPT at the Second Affiliated Hospital of Wenzhou Medical University between 13 June 2019 and 6 January 2023 had an initial NIPT
Jinyuan Wang   +9 more
wiley   +1 more source

Karyotype evolution in apomictic Boechera and the origin of the aberrant chromosomes [PDF]

open access: bronze, 2015
Terezie Mandáková   +4 more
openalex   +1 more source

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

open access: yesPrenatal Diagnosis, EarlyView.
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   +9 more
wiley   +1 more source

Karyotype depends on sperm head morphology in some amniote groups

open access: yesFrontiers in Genetics
The karyotype of an organism is the set of gross features that characterize the way the genome is packaged into separate chromosomes. It has been known for decades that different taxonomic groups often have distinct karyotypic features, but whether ...
Eric M. Kramer   +4 more
doaj   +1 more source

First insights into karyotype evolution within the family Mormyridae

open access: green, 2015
Catherine Ozouf‐Costaz   +7 more
openalex   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust   +15 more
wiley   +1 more source

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