Non-invasive prenatal diagnosis (NIPD): how analysis of cell-free DNA in maternal plasma has changed prenatal diagnosis for monogenic disorders
B Hanson, E Scotchman, LS Chitty… - Clinical …, 2022 - portlandpress.com
Cell-free fetal DNA (cffDNA) is released into the maternal circulation from trophoblastic cells
during pregnancy, is detectable from 4 weeks and is representative of the entire fetal …
during pregnancy, is detectable from 4 weeks and is representative of the entire fetal …
PREIMPLANTATION GENETIC TESTING: Non-invasive prenatal testing for aneuploidy, copy-number variants and single-gene disorders
J Shaw, E Scotchman, N Chandler, LS Chitty - Reproduction, 2020 - rep.bioscientifica.com
The discovery of cell-free fetal DNA (cffDNA) in maternal plasma has enabled a paradigm
shift in prenatal testing, allowing for safer, earlier detection of genetic conditions of the fetus …
shift in prenatal testing, allowing for safer, earlier detection of genetic conditions of the fetus …
Noninvasive fetal genotyping by droplet digital PCR to identify maternally inherited monogenic diabetes variants
RC Caswell, T Snowsill, JAL Houghton… - Clinical …, 2020 - academic.oup.com
Background Babies of women with heterozygous pathogenic glucokinase (GCK) variants
causing mild fasting hyperglycemia are at risk of macrosomia if they do not inherit the …
causing mild fasting hyperglycemia are at risk of macrosomia if they do not inherit the …
Noninvasive prenatal diagnosis of single-gene diseases: the next frontier
E Scotchman, NJ Chandler, R Mellis… - Clinical …, 2020 - academic.oup.com
BACKGROUND Cell-free fetal DNA (cffDNA) is present in the maternal blood from around 4
weeks gestation and makes up 5%–20% of the total circulating cell-free DNA (cfDNA) in …
weeks gestation and makes up 5%–20% of the total circulating cell-free DNA (cfDNA) in …
Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping
C Chen, R Li, J Sun, Y Zhu, L Jiang, J Li, F Fu, J Wan… - Genome Medicine, 2021 - Springer
Background Noninvasive prenatal testing (NIPT) of recessive monogenic diseases depends
heavily on knowing the correct parental haplotypes. However, the currently used family …
heavily on knowing the correct parental haplotypes. However, the currently used family …
Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach
C Liautard-Haag, G Durif, C Vangoethem, D Baux… - Scientific Reports, 2022 - nature.com
The field of noninvasive prenatal diagnosis (NIPD) has undergone significant progress over
the last decade. Direct haplotyping has been successfully applied for NIPD of few single …
the last decade. Direct haplotyping has been successfully applied for NIPD of few single …
Non-invasive prenatal diagnosis and screening for monogenic disorders
E Scotchman, J Shaw, B Paternoster… - European Journal of …, 2020 - Elsevier
Cell-free fetal DNA (cffDNA) can be detected in the maternal circulation from 4 weeks
gestation, and is present with cell-free maternal DNA at a level of between 5% and 20 …
gestation, and is present with cell-free maternal DNA at a level of between 5% and 20 …
Cell-free fetal DNA and non-invasive prenatal diagnosis of chromosomopathies and pediatric monogenic diseases: a critical appraisal and medicolegal remarks
G Gullo, M Scaglione, G Buzzaccarini… - Journal of Personalized …, 2022 - mdpi.com
Cell-free fetal DNA (cffDNA) analysis is a non-invasive prenatal diagnostic test with a
fundamental role for the screening of chromosomic or monogenic pathologies of the fetus. Its …
fundamental role for the screening of chromosomic or monogenic pathologies of the fetus. Its …
Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation
M Pacault, C Verebi, M Champion, L Orhant, A Perrier… - Plos one, 2023 - journals.plos.org
Non-invasive prenatal diagnosis of single-gene disorders (SGD-NIPD) has been widely
accepted, but is mostly limited to the exclusion of either paternal or de novo mutations …
accepted, but is mostly limited to the exclusion of either paternal or de novo mutations …
Sequencing Cell-free Fetal DNA in Pregnant Women With GCK-MODY
Context Individuals with monogenic diabetes due to inactivating glucokinase (GCK) variants
typically do not require treatment, except potentially during pregnancy. In pregnancy, fetal …
typically do not require treatment, except potentially during pregnancy. In pregnancy, fetal …