Fetal diagnostics and placental DNA

2021.01.06 | Graduate School of Health

On Friday 15 January at 14.00, Ida Charlotte Bay Lund defends her PhD dissertation entitled "Analyzing Placental DNA -methods, clinical use, prevalence and complexity of placental mosaicism".

Placental DNA is the center of a new project from Aarhus University, Health. The project was carried out by Ida Charlotte Bay Lund, who is defending her dissertation on January 15, 2021.

Early in pregnancy, placental DNA can be obtained through chorionic villus sampling but also through maternal blood sampling (Non-invasive prenatal test). National data from the project showed that the majority of Danish pregnant women (80%), who were offered prenatal diagnostics in 2013-2017, had chorionic villus sampling carried out instead of NIPT.

Generally, analyses on chorionic villus samples provide reliable results and these results are more accurate than results from NIPT. However, in rare cases (<4%, data from the project), results from chorionic villus samples show two or more distinct cell lines; also known as mosaicism. Mosaicism is frequently confined to the placenta but may involve the fetus and cause disease or malformations. The project demonstrated that the risk of fetal mosaicism was equally high in cases of mosaicism for small chromosomal parts and whole chromosomes. Analyses on chorionic villus samples from postpartum placentas revealed that many different variations, without fetal involvement, can be found in the same placenta. Therefore, the complexity of mosaicism in chorionic villus samples is evident and needs to be explored further.     

The summary is written by the PhD student.    

The defence is public and takes place online via Zoom. Please read the attached press release for more information.

Contact:

PhD student Ida Charlotte Bay Lund 

Mail: idalund@biomed.au.dk  

Phone: (+45) 2298 2281 

Read full press release