Results 11 to 20 of about 2,435,290 (202)
Attitudes toward prenatal diagnosis and termination of pregnancy in Saudi Arabia [PDF]
, 2004 INTRODUCTION: Advances in molecular biology will soon make it possible to offer parents prenatal testing for a large number of different genetic disorders.
Alsulaiman, Ayman
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A comparison of attitudes towards prenatal diagnosis and pre-implantation genetic diagnosis [PDF]
, 2010 Technological advances in prenatal screening and diagnosis mean that it is now possible to test for a wide range of congenital conditions (Hewison et al., 2007).
Miller, Chloe Louise
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Third trimester ultrasound. A long-standing debate
Taiwanese Journal of Obstetrics & Gynecology, 2021 Third trimester ultrasound has long been in obstetrics a topic of debate. This issue is framed in a historical debate on the effectiveness of routine obstetrical ultrasound and two opposing trends originated in America and Europe, respectively.
Álvaro López Soto +3 more
doaj +1 more source
A case of placental trisomy 18 mosaicism causing a false negative NIPT result
Molecular Cytogenetics, 2017 Background The non-invasive prenatal testing that evaluates circulating cell free DNA, and has been established as an additional pregnancy test for detecting the common fetal trisomies 21, 18 and 13 is rapidly revolutionizing prenatal screening as a ...
Jiexia Yang +7 more
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Molecular Cytogenetics, 2021 Introduction De novo balanced reciprocal translocations mosaicism in fetus conceived using preimplantation genetic testing from a different balanced translocation carrier parent has been rarely reported. Methods Chromosomal microarray analysis, karyotype
Shaoqin Zhang +5 more
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The significance of trisomy 7 mosaicism in noninvasive prenatal screening
Human Genomics, 2019 Background This study was an evaluation of the role of noninvasive prenatal testing (NIPT) in the detection of trisomy 7 in prenatal diagnosis. Method A total of 35 consecutive cases underwent screening for trisomies by cell-free DNA testing between ...
Yiming Qi +7 more
doaj +1 more source
Molecular Cytogenetics, 2020 Background Defining the phenotype-genotype correlation of small supernumerary marker chromosomes (sSMCs) remains a challenge in prenatal diagnosis. We karyotyped 20,481 amniotic fluid samples from pregnant women and explored the molecular characteristics
Lili Zhou +6 more
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Discrepancy of QF-PCR, CMA and karyotyping on a de novo case of mosaic isodicentric Y chromosomes
Molecular Cytogenetics, 2019 Background Isodicentric chromosomes are the most frequent structural aberrations of human Y chromosome, and usually present in mosaicism with a 45, X cell line.
Yuan Liu +9 more
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BMC Cardiovascular Disorders, 2020 Background TAB2 is an activator of MAP 3 K7/TAK1, which is required for the IL-1 induced signal pathway. Microdeletions encompassing TAB2 have been detected in various patients with congenital heart defects (CHD), indicating that haploinsufficiency of ...
Jia Chen +10 more
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Scientific Reports, 2023 Sertoli cell-only syndrome (SCOS), a severe testicular spermatogenic failure, is characterized by total absence of male germ cells. To better expand the understanding of the potential molecular mechanisms of SCOS, we used microarray datasets from the ...
Yuting Jiang +6 more
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