Results 81 to 90 of about 111,518 (268)

IONA test for first-trimester detection of trisomies 21, 18 and 13 [PDF]

open access: yes, 2015
OBJECTIVE: To assess the potential performance of screening for fetal trisomies 21, 18 and 13 by cell-free DNA (cfDNA) analysis of maternal blood using the IONA\uae test.
Dumidrascu-Diris, D.   +4 more
core   +1 more source

Factors involved in the decision to decline prenatal screening with noninvasive prenatal testing (NIPT)

open access: yesPrenatal Diagnosis, 2022
To investigate factors involved in the decision to decline prenatal screening with noninvasive prenatal testing (NIPT).
L. van Prooyen Schuurman   +11 more
semanticscholar   +1 more source

RENAL‐CHIP: Rejection Evaluation via Non‐Invasive Analysis of Circulating Podocytes With Herringbone‐Chip Isolation Platform

open access: yesAdvanced Science, EarlyView.
RENAL‐CHIP converts 1 mL of peripheral blood into a biopsy‐equivalent readout of renal‐allograft fate. By magnetic capture and release of donor‐derived circulating podocytes through a herringbone microfluidic chip, 84% capture, 96% release and single‐cell RNA evidence of rejection‐specific immunity are achieved.
Juan Song   +11 more
wiley   +1 more source

A case of Ewing's sarcoma identified via noninvasive prenatal testing

open access: yesClinical Case Reports, 2020
Although noninvasive prenatal testing is not intended to identify maternal genomic information, it can provide other information that may lead to the incidental discovery of coexisting conditions including maternal malignancy.
Keiko Miyagami   +6 more
doaj   +1 more source

Prenatal diagnosis of partial monosomy 21q (21q22.1→qter) associated with intrauterine growth restriction and corpus callosum dysgenesis

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2020
Objective: A prenatal diagnosis of partial monosomy 21q(21q22.1→ qter) in fetus with intrauterine growth restriction and corpus callosum dysgenesis but escaped from the detection by cell free DNA testing was reported.
Ying-Chung Chen   +4 more
doaj   +1 more source

Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis

open access: yesBMC Pregnancy and Childbirth, 2021
Background We aimed to evaluate the clinical value of copy number variation-sequencing (CNV-Seq) in combination with cytogenetic karyotyping in prenatal diagnosis.
Jinman Zhang   +6 more
doaj   +1 more source

Potential Use of Fetal Genetic Material in Maternal Circulation for Prenatal Noninvasive Diagnosis of Genetic Disease [PDF]

open access: yes, 2016
Prenatal diagnostic technique is used to determine whether the unborn fetus is affected with a genetic disorder or other abnormality. This technique is generally carried out for a genetic disease that is not treata-ble, in which the termination should be
Megawati, Anak Agung Dewi
core  

A Critical Appraisal of Guidelines for Antenatal Care: Components of Care and Priorities in Prenatal Education [PDF]

open access: yes, 2009
There are a variety of published prenatal care (PNC) guidelines that claim a scientific basis for the information included. Four sets of PNC guidelines published between 2005 and 2009 were examined and critiqued.
Amanda Forristal   +16 more
core   +2 more sources

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio   +16 more
wiley   +1 more source

Calculation of Fetal Fraction for Non-Invasive Prenatal Testing

open access: yesBioTech, 2021
Estimating the fetal fraction of DNA in a pregnant mother’s blood is a risk-free, non-invasive way of predicting fetal aneuploidy. It is a rapidly developing field of study, offering researchers a plethora of different complementary methods. Such methods
Matthew Cserhati
doaj   +1 more source

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