Explanipedia

Placental mosaicism for structural chromosomal variants: follow-up of 251 Danish cases (1983–2021) Open

Simon Horsholt Thomsen, Ida Charlotte Bay Lund, Iben Bache, Naja Becher, Ida Vogel · 2025

Mosaicism for an SV detected in CVS is associated with a high risk of TFM. CPM involving SV's does not generally appear to increase the risk of adverse outcomes, although a modestly elevated risk of preterm birth was observed in cases with…

Parental experience of the diagnostic process and its role in the decision to terminate pregnancy due to fetal abnormality; A qualitative interview study Open

Maiken Fabricius Damm, Dorte Hvidtjoern, Puk Sandager, Ida Vogel, Christina Prinds , et al. · 2025

Introduction The detection of fetal malformation is a shock to expectant parents and often initiates a diagnostic process of additional tests and ultrasound scans, that may be uncertain and stressful to the parents. The aim of the present …

P-076 Sperm donation - does concentration of donor sperm affect the chance of pregnancy? A cohort study Open

A B Skytte, Ida Vogel, Stina Lou, Josephine G. Lemmen, Marie Kanne Poulsen , et al. · 2025

Study question Does the concentration of motile sperm in donated sperm samples influence the likelihood of pregnancy and live birth in fertility treatment? Summary answer Both the concentration of motile sperm in purchased donor samples an…

Genetics in fetal medicine Open

Simon Horsholt Thomsen, Tina Duelund Hjortshøj, M. Barbosa, Lone Laursen, Martin J. Larsen , et al. · 2025

The Danish prenatal program and genetic testing provide pregnant couples with the opportunity to learn about serious and potentially life-threatening fetal conditions. While invasive diagnostic methods remain the gold standard, advances in…

Mosaic STS gene deletions in chorionic villus samples are often confined to the placenta, and they differ in size from STS gene deletions in patients with X-linked Ichthyosis Open

Pernille Marker Rydder, Lotte Andreasen, Simon Horsholt Thomsen, Uffe Birk Jensen, Naja Becher , et al. · 2025

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare Open

Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst , et al. · 2025

Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and i…

Non‐Invasive Prenatal Testing by Cell‐Free DNA ( cfNIPT ) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes Open

Ivonne Bedei, Johanna Bruder, Ida Charlotte Bay Lund, Simon Horsholt Thomsen, Ida Vogel , et al. · 2025

Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phe…

Increased nuchal translucency thickness and normal chromosomal microarray: Danish nationwide cohort study Open

Kasper Gadsbøll, Nis Brix, Puk Sandager, Olav Bjørn Petersen, Athena P. Souka , et al. · 2025

Objective To assess the outcome of pregnancies with increased fetal nuchal translucency (NT) thickness and a normal result from chromosomal microarray (CMA) vs conventional karyotyping. Methods This was a Danish nationwide registry‐based c…

Making Sense of a Prenatal Detection of Trisomy 16 Mosaicism in the Placenta: A Qualitative Study of Pregnant Women's Decision Making Open

Stina Lou, Anna Ryberg, Naja Becher, Ida Charlotte Bay Lund, Ida Vogel · 2025

Objective Prenatal detection of Trisomy 16 mosaicism (MosT16) in a Chorionic Villus Sample (CVS) results may cause significant anxiety for expectant parents due to the risk of fetal malformation and fetal growth restriction (FGR). The aim …

Reply Open

Kasper Gadsbøll, Ida Vogel, S. E. Kristensen, Lars Henning Pedersen, Jon Hyett , et al. · 2024

A time/space bubble: Expectant parents’ experience of birth after termination of pregnancy due to fetal anomaly in a midwifery-led, obstetric unit for prenatal loss Open

Maiken Damm, Stina Lou, Puk Sandager, Ida Vogel, Christina Prinds , et al. · 2024

Termination of pregnancy due to a fetal anomaly is a challenging and mentally stressful experience, associated with trauma-related stress, depression and symptoms of complicated grief. It differs from other types of pregnancy loss because …

Placental mosaicism for autosomal trisomies: comprehensive follow-up of 528 Danish cases (1983–2021) Open

Simon Horsholt Thomsen, Ida Charlotte Bay Lund, Iben Bache, Naja Becher, Ida Vogel · 2024

Experiences of vaginal lengthening treatment and sexual well‐being in women with Mayer–Rokitansky–Küster–Hauser ( MRKH ) syndrome: An interview study Open

Amalie Hahn Jensen, Morten Krogh Herlin, Birgitta Trolle, Ida Vogel, Stina Lou · 2024

Objective To explore how women with Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome experience dilation or surgical vaginal lengthening treatment, and their current sexual well‐being. Design A qualitative interview study. Setting Denmark. P…

Combined first‐trimester screening and invasive diagnostics for atypical chromosomal aberrations: Danish nationwide study of prenatal profiles and detection compared with NIPT Open

Kasper Gadsbøll, Ida Vogel, S. E. Kristensen, Lars Henning Pedersen, Jon Hyett , et al. · 2024

Objectives Our aim was to examine the prenatal profiles of pregnancies affected by an atypical chromosomal aberration, focusing on pathogenic copy‐number variants (pCNVs). We also wanted to quantify the performance of combined first‐trimes…

Understanding the Diagnostic Odyssey of Women with Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome in Denmark: A Qualitative Interview Study Open

Stina Lou, Amalie Hahn Jensen, Ida Vogel, Birgitta Trolle, Morten Krogh Herlin · 2024

Encounters with public and professional understandings of Down syndrome: A qualitative study of parents' experiences Open

Ellen Hollands Steffensen, Stephanie L. Santoro, Lars Henning Pedersen, Ida Vogel, Stina Lou · 2024

Background The meanings of neurodevelopmental conditions are socially and culturally defined. We explored how parents of a child with Down syndrome experienced public and professional understandings of Down syndrome. Method Qualitative int…

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies Open

Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo , et al. · 2024

Has the introduction of increased genetic prenatal testing affected rates of termination of pregnancy due to fetal abnormality? Open

Line Raaby, Stina Lou, Rikke Ramløv Lodberg Ivarsen, Jette Led Sørensen‎, Ole H. Larsen , et al. · 2024

Objective Genetic high‐resolution analyses and improved diagnostic imaging have impacted the ability to detect fetal disorders. It is unknown if this resulted in an alteration in the number of terminations of pregnancy due to fetal anomali…

Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant Open

K. Seiersen, Tine Brink Henriksen, Ted Carl Kejlberg Andelius, Lotte Andreasen, Tue Diemer , et al. · 2023

Maternal age and the risk of fetal aneuploidy: A nationwide cohort study of more than 500 000 singleton pregnancies in Denmark from 2008 to 2017 Open

Line Elmerdahl Frederiksen, Sofie Møller Ølgaard, Laura Roos, Olav Bjørn Petersen, Line Rode , et al. · 2023

Introduction In this register‐based study of pregnancies in Denmark, we assessed the associations between maternal age and the risk of fetal aneuploidies (trisomy 21, trisomy 18, trisomy 13, triploidy, monosomy X and other sex chromosome a…

Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls Open

Line Dahl Jeppesen, Lotte Hatt, Ripudaman Singh, Palle Schelde, Katarina Ravn , et al. · 2023

Introduction: Circulating fetal cells isolated from maternal blood can be used for prenatal testing, representing a safe alternative to invasive testing. The present study investigated the potential of cell-based noninvasive prenatal testi…

Prenatal detection of orofacial clefts in Denmark from 2009 to 2018 Open

F Sander, Ditte Staub Jørgensen, LH Jakobsen, Arne Jensen, Thea Lousen , et al. · 2023

Objective To investigate the overall and type‐specific prenatal detection rates (DRs) of orofacial clefts in a national cohort in Denmark. Methods This study was based on data from the Danish Fetal Medicine Database and included all fetuse…

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return Open

Emily A. Huth, Xiaonan Zhao, Nichole Owen, Pamela N. Luna, Ida Vogel , et al. · 2023

Decoding 22q11.2: prenatal profiling and first‐trimester risk assessment in Danish nationwide cohort Open

Kasper Gadsbøll, Ida Vogel, Lars Henning Pedersen, S. E. Kristensen, Ellen Hollands Steffensen , et al. · 2023

Objectives To examine the distribution of nuchal translucency thickness (NT), free β ‐human chorionic gonadotropin ( β ‐hCG) and pregnancy‐associated plasma protein‐A (PAPP‐A) in pregnancies with a fetal 22q11.2 aberration. Furthermore, th…

A decade of change – lessons learned from prenatal diagnostics in Central Denmark region in 2008–2018 Open

Dorte L. Lildballe, Naja Becher, Else Marie Vestergaard, Rikke Christensen, Stina Lou , et al. · 2023

Introduction In 2011, it was decided to implement chromosomal microarray in prenatal testing in the Central Denmark Region, mainly due to the expected higher diagnostic yield. Chromosomal microarray was introduced gradually for an increasi…

How does cell‐based non‐invasive prenatal test (NIPT) perform against chorionic villus sampling and cell‐free NIPT in detecting trisomies and copy number variations? A clinical study from Denmark Open

Lotte Hatt, Katarina Ravn, Line Dahl Jeppesen, Bolette Hestbek Nicolaisen, Inga Baasch Christensen , et al. · 2023

Objectives We aimed to compare cell‐based NIPT (cbNIPT) to chorionic villus sampling (CVS) and to examine the test characteristics of cbNIPT in the first clinical validation study of cbNIPT compared to cell‐free NIPT (cfNIPT). Material and…

Impact of a prenatal screening program on the Down syndrome phenotype: An interrupted time series analysis Open

Ellen Hollands Steffensen, Lars Henning Pedersen, Stina Lou, Ida Vogel · 2023

Introduction We hypothesized that children with Down syndrome who were born after the implementation of first‐trimester combined screening for trisomy 13, 18, and 21 and a second‐trimester ultrasound scan in Denmark would show a milder syn…

Experiences and attitudes of Danish men who were sperm donors more than 10 years ago; a qualitative interview study Open

Stina Lou, Stina Bollerup, Morten Deleuran Terkildsen, Stine Willum Adrian, Allan Pacey , et al. · 2023

Background More knowledge about the long-term impact of sperm donation is essential as the donor’s attitude towards donation may change over time. Personal and social developments may prompt a rethinking of previous actions and decisions, …

Inclusion of sex chromosomes in noninvasive prenatal testing in Asia, Australia, Europe and the USA: A survey study Open

Ellen Hollands Steffensen, Anne Skakkebæk, Kasper Gadsbøll, Olav Bjørn Petersen, Thomas Westover , et al. · 2023

Objective To examine the extent to which sex chromosomes are included in current noninvasive prenatal testing (NIPT) and the reporting practices with respect to fetal chromosomal sex and sex chromosome aberrations (SCAs), in addition to an…

Is the first‐trimester combined screening result associated with the phenotype of Down syndrome? A population‐based cohort study Open

Ellen Hollands Steffensen, Lars Henning Pedersen, Stina Lou, Ida Vogel · 2022

Objective To investigate if the Down syndrome phenotype differs according to the result of first‐trimester combined screening (FTS). Method We included all Down syndrome cases diagnosed by karyotype in pregnancy or after birth in Denmark d…

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