Fetal Medicine and Center for Fetal Diagnostics
Research profile
At the Fetal Medicine Centre, the faculty and fellows are conducting and teaching, clinical, epidemiologic and translational research in the field of Maternal-Fetal Medicine.
Our unit has strong collaborative research links with other departments, national and international centres, and we perform and participate in multi-centered clinical trials and international research projects.
We have established multidisciplinary teams including medical genetics, pediatrics, anthropology, pathology and engineering, conducting collaborative research with special emphasis on personalised medicine in pregnancy, prenatal diagnosis, prediction and prevention of complications, the biomechanical properties of the cervix and role of the cervix in preterm birth, risk perception and the experiences and concerns of pregnant couples.
Clinical profile
Fetal Medicine has focus on fetal health and high-risk pregnancies. This includes prenatal diagnosis, management of fetal disorders and abnormalities, management of complicated pregnancies with factors affecting the expecting mother and/or the fetus, and counselling and support for parents.
The specialized Fetal Medicine Centre at Aarhus University Hospital is a referral center for fetal medicine, and one of the countries premiere centers for comprehensive prenatal services, caring for more than 6,000 patients each year. Our staff consists of highly skilled certified sonographers and fetal medicine specialists, and provide coordinated care by multidisciplinary teams of experts in prenatal genetics, fetal cardiology, neonatology and pediatrics.
Center for Fetal Diagnostics
Center for Fetal Diagnostics is an interdisciplinary research center that was established in 2016. We are geneticists, fetal medicine experts, anthropologist, molecular medicine experts, clinical laboratory geneticists and midwifes. We strive to do clinically relevant research in fetal medicine and fetal diagnostics. You may find us at AUH, G211.
Faculty investigators
Research interest:
- Medication in pregnancy
- Epidemiological methods
- Prenatal diagnosis
- Placental biology
Research interest:
- Fetal diagnostics
- Epidemiological methods
- Prenatal diagnosis
- Placental biology
Research interest:
- Prenatal diagnostics
- Prediction and prevention of pregnancy complications
- Preterm birth
- The uterine cervix
Projects
Antenatal corticosteroid treatment (ACSs) and placental function - characterization and potential detection of the placental response to ACSs
Pregnant women at risk of preterm birth are treated with preventive steroids to strengthen the child's chances of survival if born prematurely. However, this treatment may also affect the functioning of the placenta and have a negative impact on brain development, especially among children who are found to be born weeks after the treatment.
As our aim is to reduce the occurrence of unfortunate late consequences for the treated children, we will collect biological data that can show how the individual pregnant woman and the individual unborn child can be expected to react to the steroid treatment. So, the intention of this project is to personalize the treatment to decrease the risk of both under- and overtreatment in the future.
PhD student Tabia Volquartz: tv@biomed.au.dk
Main Supervisor: Lars Henning Pedersen, Professor, Dept. of Clinical Medicine, Aarhus University
Fetal drug exposure and hearing loss in children
Ph.d. project period: 01.01.2023 - 31.12.2025
Each year 300 children in Denmark are born with hearing loss. Several risk factors have been linked to congenital or early onset hearing loss, mostly being intrauterine infections or genetics. But in up to 40% of the cases, the reason remains unknown. Some types of drugs can affect the inner ear in adults, and drugs can bet transferred from the mother to the fetus through the placenta, but it has never been investigated whether hearing loss in children could be a result of drug intake during pregnancy.
In this Ph.D. project we aim to investigate whether drug intake during pregnancy leads to congenital or early onset hearing loss in children. The project will be based on data from Danish registries, where children diagnosed with hearing loss will be identified and their mothers’ intake of different medicine will be investigated.
PhD student Asli Sena Kücükyildiz, MD
Mosaicism in the placenta
Ph.d. project period: 1st July 2022 – 30th June 2025
Mosaicism is defined by the presence of two or more chromosomally different cell lines in the same tissue – often a normal cell line and a cell line with af chromosomal variant. It is found in 2-4% of placental biopsies in Denmark and thereby affects around 100 pregnant couples in Denmark each year.
When mosaicism is detected in a placental biopsy it comes with great uncertainty for both the couple, but also the geneticists and fetal medicine experts. Often the mosaicism in confined to the placenta, but even in those cases it may cause fetal growth retardation, and this risk seems to be, at least partly, dependent on the chromosome involved. Furthermore we have seen that other chromosomal variants can be found elsewhere in the placenta, complicating the problem even more. In the project we examine placentas from pregnancies with mosaicism and follow up on the children after birth. Furthermore, we are conducting register based studies of all pregnancies with mosaicism in the placenta since the 1980´s.
MD, ph.d. student Simon Horsholt Thomsen: sihoni@rm.dk
Center for Fetal Diagnostics/Department of Clinical Genetics
Aarhus University/Aarhus University Hospital
Main supervisor: Ida Vogel. Professor, consultant
Center for Fetal Diagnostics/Department of Obstetrics and Gynaecology
Aarhus University/Aarhus University Hospital
Placental signals in response to pharmacological treatment – can in vitro models predict placental-fetal interaction in diabetic and obese pregnancies?
Ph.d. project period: 01.10.2022 – 09.02.2026
The use of medication while pregnant can be necessary to ensure the health of both mother and child. Exposure to medication in the womb is however not without risk for the unborn child as essential signaling and programming of the growing fetus may be affected by maternal medicine use.
Therefore, the aim of this Ph.D. project is to obtain a better understanding of the vital placental signaling, transport, and metabolism of medical compounds. We will study the effect of medication on placental tissue from both normal, uncomplicated pregnancies, with focus on sex differences, and from pregnancies complicated by gestational diabetes or maternal obesity. Here, we will investigate how medication in pregnancy affect placental-fetal signaling, using both umbilical cord blood, maternal blood, and placental cell models. The goal is to gain new knowledge useful in personalized medicine hopefully contributing to increasing the safe use of medication during pregnancy.
PhD Student Signe Dalsgaard Justesen, MSc.: signejustesen@clin.au.dk
Main Supervisor: Lars Henning Pedersen, Clinical Professor, Dept. of Clinical Medicine, Aarhus University
Co-supervisor: Agnete Larsen, Associate professor, Dept. of Biomedicine, Aarhus University
Aspirin in Pregnancy
Enrolment 01.05.2020-01.07.2025
This project investigates the effects of aspirin treatment during pregnancy for the mother, child and placenta. It is a part of a larger project at the department seeking to optimize the medical treatment during pregnancy. Aspirin treatment reduces the risk of preeclampsia for pregnant women at high-risk. According to the latest international guidelines 10% of pregnant women should be offered the treatment, but data on the long-term consequences are spares. The project uses the Danish registries to investigated the consequences of aspirin treatment for mother and child and early placental tissue to explore the mechanism of action for aspirin.
PhD Student Julie Hauer Vendelboe: jhv@clin.au.dk
Main supervisor: Lars Henning Pedersen
Prediction of preeclampsia and monitoring of high-risk pregnancies
Ph.d. project period: 01.02.2023-30.6.2026
Preeclampsia is a severe complication of pregnancy. It is characterized by hypertension and affection of multiple organs. Treatment with aspirin from early pregnancy can prevent early preeclampsia or delay the development of preeclampsia in women with high risk of preeclampsia. It is therefore essential to identify women at risk. The aim of this project is to investigate risk markers in women who develop preeclampsia, including associations between blood pressure variation and trajectories in early pregnancy, and the risk of developing preeclampsia.
Monitoring of the blood pressure at home in high-risk pregnancies have several advantages and may be beneficial with measurements and registration at home. The project investigates if a system containing interactive coaching can improve quality and adherence of home monitoring. The project will provide important knowledge of early signs and changes in women who develop preeclampsia later in pregnancy.
The study is expected to form the basis for a future larger randomized trial on the clinical effect of home monitoring in pregnant women with an increased risk of preeclampsia.
The project is carried out in collaboration with engineer Stefan Wagner, Department of Electrical and Computer Engineering – Biomedical Engineering, Aarhus University.
Contact person:
Henriette Ladegård Skov
Medical Student, PhD-student
Department of Obstetrics and Gynaecology
Center for Fetal Diagnostics
Department of Clinical Medicine
Aarhus University/Aarhus University Hospital
Main Supervisor:
Puk Sandager, MD, Consultant, PhD, Associate Professor
Department of Obstetrics and Gynaecology, Fetal Medical Centre
Center for Fetal Diagnostics
Department of Clinical Medicine
Aarhus University/Aarhus University Hospital
kirssand@rm.dk
Polypharmacy in pregnancy – peaceful coexistence or dangerous interaction?
Over the last years use of medications in pregnancy and also the use of multiple medications in pregnancy has increased. Polypharmacy increases the risk of drug-drug interactions or interactions between drugs and the underlying diseases with potential adverse effects for mother and foetus. In this PhD-study, we study how the use of a specific example of polypharmacy, namely the use of antidiabetics and antidepressants in pregnancy, can affect the risk for major congenital malformations and foetal growth disturbances. Furthermore, we will develop a prediction model based on machine learning methods to predict the risk of foetal adverse events in these polypharmacy pregnancies.
PhD-student Mette Østergaard Thunbo: methu@clin.au.dk
Supervisors: Lars Henning Pedersen, Agnete Larsen and Daniel R. Witte
Impact of a prenatal screening program on the Down syndrome phenotype – an interdisciplinary approach
Project period: 2020-2023
With this PhD project, we aim to update and nuance knowledge on Down syndrome. Today, all pregnant women in Denmark are offered prenatal screening for Down syndrome. We hypothesize that the result at screening could be associated with syndrome severity. Further, appropriate counselling in relation to screening depends on knowledge about life with Down syndrome. Therefore, we will describe the severity of the syndrome among children with Down syndrome and explore how parents of a child with Down syndrome experience their family's everyday life. Our findings may improve counselling about Down syndrome, health care for children with Down syndrome, and public support of families where a child has Down syndrome.
PhD Student Ellen Hollands Steffens: ellesf@rm.dk
Main supervisor: Ida Vogel
Co-supervisors: Lars Henning Pedersen and Stina Lou
Cell-based prenatal testing – a future alternative to chorion villus sampling?
In the circulation of the pregnant woman are single cells from the fetus (trophoblasts). With antibodies, these cells can be stained and isolated. With whole genome amplification it is possible to obtain DNA from each embryonic cell to perform specific analyses (arrayCGH and sequencing). We are working to establish this as an alternative to cell free fetal testing and chorion villus sampling, but also supplement with screening tests for cystic fibrosis and other monogenetic disease. The project is carried out in a public/private collaboration with the company Arcedi Biotech.
Ida Vogel: idavogel@rm.dk
Clinical professor, consultant
Center for Fetal Diagnostics/Department of Obstetrics and Gynecology
Aarhus Universitet/Aarhus Universitetshospital
How do future parents experience the decision making process and termination of pregnancy in a Council abortion on fetal indication?
In an interdisciplinary research collaboration we investigate how parents experience the diagnostic process and decision to terminate the pregnancy, when prenatal examinations show disease and/or malformations in the unborn child. At the same time we will investigate how parents experience the process around the birth/abortion and when they are admitted to a specialized department like the Section for Perinatal Loss. The study is conducted as a qualitative interview study and participants are recruited by the staff at the Section for Perinatal Loss, Aarhus University Hospital. We will include 15 couples who have experienced a council abortion after the 18th week of gestation. The couples (possibly only the mother) are interviewed 1-3 months after their loss. The project is expected to be published in 2 research articles.
Maiken Damm, midwife, cand. san. in midwifery;
Research group: Stina Lou, anthropologist, ph.d., DEFACTUM, Central Denmark Region/Center for Fetal Diagnostics, and associate professor, Department of Clinical Medicine, AU; Dorte Hvidtjørn, ph.d., clinical midwife specialist, Aarhus University Hospital (Section for Perinatal Loss) and associate professor, Department of Clinical Medicine, AU; Ida Vogel, professor, consultant, Center for Fetal Diagnostics, Aarhus University and Department of Obstetrics and Gynaecology, Aarhus University Hospital; Puk Sandager, associate professor, Ultrasound Clinic, Department of Obstetrics and Gynaecology, Aarhus University Hospital
Investigating pregnant women's experiences and decision-making following a prenatal diagnosis of trisomy 16 mosaicism. A qualitative study.
When trisomy 16 mosaicism is detected in the placenta, it may be a sign of an affected child. However, even if further testing reveals an unaffected child, the risk of intrauterine growth restriction and premature birth is still significant. Based on qualitative interviews with women, who have faced this complex situation during pregnancy, we investigate their experiences and their decision-making processes towards termination or continuation of pregnancy.
Primary investigators:
Ida Vogel, Professor, Center for Fetal Diagnostics, Aarhus University Hospital
Stina Lou, Associate Professor, Center for Fetal Diagnstics, Aarhus University Hospital
Cell based NIPT and monogenic disorders
Project period: 2020-2023
In a public-private cooperation with a Danish biotech company, ARCEDI Biotech, we examine if a simple blood sample from pregnant women, can test the fetus for known serious heritable diseases. A blood sample test for pregnant women is called Non-Invasive Prenatal Test (NIPT) and is a risk free alternative to a placental biopsy which holds a small risk of abortion (<0.5%).
In the project we collect blood samples from pregnant women, where the fetus is being tested for known heritable diseases through a placental biopsy. The blood samples contain fetal cells that can be isolated with a technology developed by ARCEDI Biotech. The fetal cells are tested for the same known heritable diseases as the Department of Clinical Genetics, and the result of the non-invasive prenatal test is compared with the result of the placental biopsy. Apart from the known heritable diseases in the family, we work to develop NIPT as a screening method for cystic fibrosis in the pregnancy by examining fetal cells in the maternal blood. The project is an Industrial PhD project supported by the Innovation Fund Denmark.
Line Dahl Jeppesen, PhD student: linedahljeppesen@clin.au.dk
Placental mosaicism (Register based study)
A register-based study of confined placental mosaicism and the risk of intrauterine growth restriction (IUGR), resulting in more precise counselling of pregnant couples affected by confined placental mosaicism.
A study of the use of non-invasive prenatal testing (NIPT) – both cell free and cell based – for detection of mosaicism.
Ida Charlotte Bay Lund, PhD, Senior Registrar, Department of clinical genetics
Clinical utility of comprehensive genomic sequencing in the transition from prenatal to neonatal life – a retrospective study
We will calculate the number and result of extensive genetic sequencing (WES/WGS) performed in sick fetuses during ongoing pregnancy (from week 12 onwards) at AUH. Likewise, we will calculate the number and result of extensive genetic sequencing (WES/WGS) performed in sick newborns (up to and including 4 weeks after birth) at AUH. We will investigate whether we offer comprehensive genetic sequencing to the right patients and how the genetic results affect the treatment of pregnant women, fetuses and newborn children. Our study will also promote and strengthen the collaboration between the specialties involved, thus paving the way for a more systematic and consensus-based treatment offer for the benefit of our patients.
Naja Becher, Phd, consultant in clinical genetics, senior researcher dept of Clinical Genetics
DanMRKH - Multidisciplinary studies of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome
Study period: 2022-2027
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital disorder characterized by aplasia of the uterus and upper vagina in females with normal female chromosomes (46,XX) and sex characteristics. The patients face overwhelming consequences related to sexual identity, fear of coital difficulties, and grieve of not having their own children. To date, high quality population-based studies of MRKH syndrome patients are lacking to inform and support evidence-based clinical care for this patient group. To address this knowledge gap, we will examine the nature and long-term consequences of MRKH syndrome a large nationwide cohort combining various disciplines including epidemiology, gynecology, endocrinology, sexology, anthropology and genetics.
Morten Krogh Herlin, MD, PhD, Department of Clinical Genetics
Collaborators:
Amalie Hahn Jensen, DEFACTUM, Central Denmark Region
Stina Lou, anthropologist, PhD, DEFACTUM, Central Denmark Region/Center for Fetal Diagnostics, and associate professor, Department of Clinical Medicine, AU
Professor Ida Vogel, MD, PhD, DMSc, Department of Gynecology and Obstetrics, Aarhus University Hospital, Aarhus
Vinnie Hornshøj Greve, MD, Department of Gynecology, Aarhus University Hospital, Aarhus
Anette Tønnes Pedersen, MD, PhD, Department of Gynecology, Rigshospitalet, Copenhagen
Pernille Ravn, MD, DMSc, Department of Gynecology, Odense University Hospital, Odense
Annemette Jørgensen, MD, Department of Gynecology, Aalborg University Hospital, Aalborg
Dorte Lildballe, PhD, Department of Molecular Medicine, Aarhus University Hospital
Professor Claus H. Gravholt, MD, DMSc, Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus