Uniparental disomy in a population of 32,067 clinical exome trios
Purpose Data on the clinical prevalence and spectrum of uniparental disomy (UPD) remain
limited. Trio exome sequencing (ES) presents a comprehensive method for detection of UPD …
limited. Trio exome sequencing (ES) presents a comprehensive method for detection of UPD …
[HTML][HTML] The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances?
De novo distal deletions are structural variants considered to be already present in the
zygote. However, investigations especially in the prenatal setting have documented that they …
zygote. However, investigations especially in the prenatal setting have documented that they …
Prenatal screening for microdeletions and rare autosomal aneuploidies
D Fiorentino - Clinical obstetrics and gynecology, 2023 - journals.lww.com
Noninvasive prenatal screening with cell-free DNA is now considered a first-line screening
for common aneuploidies. Advancements in existing laboratory techniques now allow to …
for common aneuploidies. Advancements in existing laboratory techniques now allow to …
Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseases
Y Pang, C Wang, J Tang, J Zhu - Molecular Cytogenetics, 2021 - Springer
Objective To assess the detection efficiency of noninvasive prenatal testing (NIPT) for fetal
autosomal aneuploidy, sex chromosome aneuploidy (SCA), other chromosome aneuploidy …
autosomal aneuploidy, sex chromosome aneuploidy (SCA), other chromosome aneuploidy …
[HTML][HTML] Genome-wide cell-free DNA screening: a focus on copy-number variants
Abstract Purpose Of 86,902 prenatal genome-wide cell-free DNA (cfDNA) screening tests,
4,121 were positive for a chromosome abnormality. This study examines 490 cases screen …
4,121 were positive for a chromosome abnormality. This study examines 490 cases screen …
Clinical significance and mechanisms associated with segmental UPD
PR Papenhausen, CA Kelly, S Harris, S Caldwell… - Molecular …, 2021 - Springer
Whole chromosome uniparental disomy (UPD) has been well documented with mechanisms
largely understood. However, the etiology of segmental limited UPD (segUPD) is not as …
largely understood. However, the etiology of segmental limited UPD (segUPD) is not as …
Imprinting disorders
Imprinting disorders (ImpDis) are congenital conditions that are characterized by
disturbances of genomic imprinting. The most common individual ImpDis are Prader–Willi …
disturbances of genomic imprinting. The most common individual ImpDis are Prader–Willi …
Prenatal Diagnosis of Uniparental Disomy in Cases of Rare Autosomal Trisomies Detected Using Noninvasive Prenatal Test: A Case of Prader–Willi Syndrome
Rare autosomal trisomies (RATs) other than common aneuploidies can be detected using
noninvasive prenatal testing (NIPT). However, conventional karyoty** is insufficient for …
noninvasive prenatal testing (NIPT). However, conventional karyoty** is insufficient for …
Noninvasive prenatal testing suggesting an abnormality in chromosome 15 confirmed to be a case of Prader–Willi syndrome caused by trisomy rescue in the neonatal …
T Okuda, M Moroto, T Yamamoto - Journal of Obstetrics and …, 2022 - Wiley Online Library
We report a case of a neonatal diagnosis of Prader–Willi syndrome caused by uniparental
disomy. A 34‐year‐old pregnant woman underwent noninvasive prenatal testing (NIPT) in a …
disomy. A 34‐year‐old pregnant woman underwent noninvasive prenatal testing (NIPT) in a …
[PDF][PDF] The Clinical Application of Non-invasive Prenatal Genetic Testing in the Screening of Fetal Chromosomal Diseases
Y Pang, J Tang, J Zhu - 2021 - scholar.archive.org
ObjectiveTo explore the e cacy and clinical application value of non-invasive prenatal
testing (noninvasive prenatal testing, NIPT) for screening fetal chromosomal abnormalities …
testing (noninvasive prenatal testing, NIPT) for screening fetal chromosomal abnormalities …