Results 31 to 40 of about 4,085 (262)

Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study

open access: yesBMC Medical Genomics, 2023
Background 1q21.1q21.2 microdeletions/microduplications are rare and incompletely penetrant genetic mutations, and only a few reports regarding their prenatal diagnosis are currently available.
Nan Guo   +5 more
doaj   +1 more source

Fetal nuchal translucency scan in Nigeria

open access: yesThe Pan African Medical Journal, 2014
INTRODUCTION: To evaluate the performance of first trimester nuchal translucency scan screening among pregnant women in Nigeria. Methods: A prospective observational and questionnaire based study involving 510 pregnant women between 11+0 and 13+6 weeks ...
Olufemi Adebari Oloyede   +3 more
doaj   +1 more source

Assessment of Foetal Nuchal Translucency and its Relationship with Crown Rump Length in Normal Foetuses using Ultrasonography in a Subset of South Indian Population [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2022
Introduction: Assessing Nuchal Translucency (NT) accurately is necessary in detection of various anomalies as described in the literature. Studies deriving reference range for NT in Indian population is not widely available.
Meenakshi Kochuvilayil Rajeev   +5 more
doaj   +1 more source

Urine tests for Down's syndrome screening [PDF]

open access: yes, 2015
Background Down's syndrome occurs when a person has three copies of chromosome 21, or the specific area of chromosome 21 implicated in causing Down's syndrome, rather than two.
Abbas   +524 more
core   +1 more source

The Use of Ultrasound as a Potential Adjunct to Cell-Free Fetal DNA Screening for Aneuploidy at Weill Cornell Medical College, New York, USA

open access: yesThe Surgery Journal, 2018
Objective To evaluate the utility of ultrasound in identifying fetuses with uncommon chromosomal abnormalities that would be considered not detectable by cell-free fetal deoxyribonucleic acid (cfDNA).
Jessica Scholl, Stephen Chasen
doaj   +1 more source

Enlarged NT (≥3.5 mm) in the first trimester - Not all chromosome aberrations can be detected by NIPT [PDF]

open access: yes, 2016
__Background:__ Since non-invasive prenatal testing (NIPT) in maternal blood became available, we evaluated which chromosome aberrations found in our cohort of fetuses with an enlarged NT in the first trimester of pregnancy (tested with SNP microarray ...
Bos, M.J. (Marnix)   +11 more
core   +1 more source

Second trimester serum tests for Down's Syndrome screening [PDF]

open access: yes, 2012
Background Down's syndrome occurs when a person has three copies of chromosome 21 - or the specific area of chromosome 21 implicated in causing Down's syndrome - rather than two. It is the commonest congenital cause of mental retardation.
Alfirevic, Zarko   +4 more
core   +1 more source

Simplified first-trimester fetal cardiac screening (four chamber view and ventricular outflow tracts) in a low-risk population [PDF]

open access: yes, 2014
Objectives Our aim was to assess the accuracy of a simplified fetal cardiac study, inclusive of four-chamber view (4CV) and ventricular outflow tracts, performed during the 11–14 week screening by well-trained obstetricians to detect congenital heart ...
Atzei   +29 more
core   +1 more source

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

Study of nuchal translucency, ductus venosus, nasal bone and maternal age for detection of fetal chromosomal disorders in a high-risk population [PDF]

open access: yes, 2008
OBJECTIVE: To evaluate fetal nuchal translucency, ductus venosus, nasal bone and maternal age > 35 years by means of aneuploidy screening between the 12th and 14th gestational weeks in a high-risk population.
Almeida, Alessandro de Moura   +7 more
core   +3 more sources

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