Results 21 to 30 of about 679,454 (300)
, 2021 Bulleted Statements: What's already known about this topic? The incidence of discordant fetal sex was estimated to be 1 in 1500-2000. Comprehensive evaluation is required to investigate the underlying cause. What does this study add?
Ma, TWL +7 more
core +1 more source
BMJ Open, 2019 Objectives To assess international trends and patterns of prenatal diagnosis of critical congenital heart defects (CCHDs) and their relation to total and live birth CCHD prevalence and mortality.
M. Bakker +19 more
semanticscholar +1 more source
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, 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
doaj +1 more source
Noninvasive prenatal diagnosis of fetal RhD status using cell-free fetal DNA in maternal plasma with TaqMan® real-time PCR assay [PDF]
, 2007 Prenatal diagnosis is now part of established obstetric practice in many countries. However, conventional methods of prenatal diagnosis of obtaining fetal tissues for genetic analysis, including amniocentesis and chorionic villus sampling, are invasive
Rekhviashvili, Tea
core +1 more source
The expressivist objection to prenatal testing : the experiences of families living with genetic disease [PDF]
, 2014 The expressivist objection to prenatal testing is acknowledged as a significant critique of prenatal testing practices most commonly advanced by disability rights supporters.
Felicity Kate Boardman +1 more
core +1 more source
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
doaj +1 more source
Molecular Cytogenetics, 2019 Background In prenatal diagnosis, CMA has begun to emerge as a favorable alternative to karyotype analysis, but it could not identify balanced translocations, triploidies, inversion and heteromorphisms.
Jian Jiang Zhu +9 more
doaj +1 more source
Prenatal Diagnosis by Chromosomal Microarray Analysis
Fertility and Sterility, 2018 Chromosomal microarray analysis (CMA) is performed either by array comparative genomic hybridization (aCGH) or by using a SNP array. In the prenatal setting, CMA is on par with traditional karyotyping for detection of major chromosomal imbalances such as
B. Levy, R. Wapner
semanticscholar +1 more source
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