Results 21 to 30 of about 655,699 (284)
Down's Syndrome: cost, quality and value of life [PDF]
, 2001 Routine prenatal screening is based on the assumption that it is reasonable for prospective parents to choose to prevent a life with Down's syndrome. This paper questions whether Down's syndrome necessarily involves the costs, limitations and suffering ...
Alderson, Priscilla
core +2 more sources
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
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
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
Severe congenital microcephaly with AP4M1 mutation, a case report [PDF]
, 2017 Background: Autosomal recessive defects of either the B1, E1, M1 or S1 subunit of the Adaptor Protein complex-4 (AP4) are characterized by developmental delay, severe intellectual disability, spasticity, and occasionally mild to moderate microcephaly of ...
Abramowicz, Marc +6 more
core +2 more sources
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
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
doaj +1 more source
Neonatal abstinence syndrome: Pharmacologic strategies for the mother and infant. [PDF]
, 2016 Opioid use in pregnancy has increased dramatically over the past decade. Since prenatal opioid use is associated with numerous obstetrical and neonatal complications, this now has become a major public health problem.
Davis, Jonathan M. +2 more
core +2 more sources
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
doaj +1 more source
Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis
Molecular Cytogenetics, 2022 Background There are a few literature reports of prenatal ultrasound manifestations of Williams-Beuren syndrome. We aimed to explore the prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis and describe the ...
Ruibin Huang +14 more
doaj +1 more source