Search Results - "Veyver, Ignatia B."
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Promises, pitfalls and practicalities of prenatal whole exome sequencing
Published in Prenatal diagnosis (01-01-2018)“…Prenatal genetic diagnosis provides information for pregnancy and perinatal decision‐making and management. In several small series, prenatal whole exome…”
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The current and future impact of genome-wide sequencing on fetal precision medicine
Published in Human genetics (01-09-2020)“…Next-generation sequencing and other genomic technologies are transforming prenatal and reproductive screening and testing for fetal genetic disorders at an…”
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Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA
Published in Nature medicine (01-03-2019)“…Current non-invasive prenatal screening is targeted toward the detection of chromosomal abnormalities in the fetus 1 , 2 . However, screening for many dominant…”
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Parental mosaicism for apparent de novo genetic variants: Scope, detection, and counseling challenges
Published in Prenatal diagnosis (01-06-2022)“…The disease burden of de novo mutations (DNMs) has been evidenced only recently when the common application of next‐generation sequencing technologies enabled…”
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International Society for Prenatal Diagnosis 2022 debate 3—Fetal genome sequencing should be offered to all pregnant patients
Published in Prenatal diagnosis (01-04-2023)“…Prenatal trio exome sequencing (ES) has become integrated into the care for pregnant women when the fetus has structural anomalies. Details regarding…”
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Prenatal exomes and genomes – so much new and so much more to learn
Published in Prenatal diagnosis (01-05-2022)Get full text
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Improving the prenatal diagnosis of Beckwith–Wiedemann syndrome
Published in Prenatal diagnosis (01-06-2021)Get full text
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Facilitating variant curation sharing for fetal precision genomics: A new venture for prenatal diagnosis
Published in Prenatal diagnosis (01-11-2022)Get full text
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Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women
Published in Prenatal diagnosis (01-12-2016)“…Objective Non‐invasive prenatal testing (NIPT) based on fetal cells in maternal blood has the advantage over NIPT based on circulating cell‐free fetal DNA in…”
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Lower fetal fraction in clinical cell‐free DNA screening results is associated with increased risk of hypertensive disorders of pregnancy
Published in Prenatal diagnosis (01-09-2022)“…Objective To evaluate if fetal fraction (FF) reported on cell‐free DNA (cfDNA) screening is a marker for adverse obstetric outcomes. Methods We retrospectively…”
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Prenatally diagnosed developmental abnormalities of the central nervous system and genetic syndromes: A practical review
Published in Prenatal diagnosis (01-08-2019)“…Developmental brain abnormalities are complex and can be difficult to diagnose by prenatal imaging because of the ongoing growth and development of the brain…”
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Multicenter clinical experience with non‐invasive cell‐free DNA screening for monosomy X and related X‐chromosome variants
Published in Prenatal diagnosis (01-02-2023)“…Objective We aimed to investigate how the presence of fetal anomalies and different X chromosome variants influences Cell‐free DNA (cfDNA) screening results…”
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Recent advances in prenatal genetic screening and testing
Published in F1000 research (2016)“…The introduction of new technologies has dramatically changed the current practice of prenatal screening and testing for genetic abnormalities in the fetus…”
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International Society for Prenatal Diagnosis Updated Position Statement on the use of genome‐wide sequencing for prenatal diagnosis
Published in Prenatal diagnosis (01-05-2022)“…The research and clinical use of genome‐wide sequencing for prenatal diagnosis of fetuses at risk for genetic disorders have rapidly increased in recent years…”
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Overview and recent developments in cell‐based noninvasive prenatal testing
Published in Prenatal diagnosis (01-09-2021)“…Investigators have long been interested in the natural phenomenon of fetal and placental cell trafficking into the maternal circulation. The scarcity of these…”
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Take your mother's ferry: preimplantation embryo development requires maternal karyopherins for nuclear transport
Published in The Journal of clinical investigation (15-01-2023)“…The genetic basis of preimplantation embryo arrest is slowly being unraveled. Recent discoveries point to maternally expressed proteins required for cellular…”
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Maternally expressed NLRP2 links the subcortical maternal complex (SCMC) to fertility, embryogenesis and epigenetic reprogramming
Published in Scientific reports (20-03-2017)“…Mammalian parental genomes contribute differently to early embryonic development. Before activation of the zygotic genome, the maternal genome provides all…”
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The uptake of pan‐ethnic expanded carrier screening is higher when offered during preconception or early prenatal genetic counseling
Published in Prenatal diagnosis (01-03-2019)“…Objective To examine factors that influence uptake of expanded carrier screening (ECS) among women undergoing preconception and prenatal genetic counseling…”
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DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting
Published in Genes (06-08-2021)“…Genomic imprinting is an epigenetic marking process that results in the monoallelic expression of a subset of genes. Many of these 'imprinted' genes in mice…”
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Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles
Published in American journal of human genetics (01-11-2018)“…Androgenetic complete hydatidiform moles are human pregnancies with no embryos and affect 1 in every 1,400 pregnancies. They have mostly androgenetic…”
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