Short summary

This is a shared project between the Department of Obstetrics (Fetal medicine) and Department of Clinical Genetics about prenatal diagnostics.

The aim of the project is to report the results of prenatal diagnostics performed on pregnant women with due dates in 2017 and 2018 with four different prenatal risk indications.

These data are new, because the prenatal genetic test method was changed and a new guideline for prenatal diagnostics was recently issued.

Rationale

In May 2016, a new genetic method (chromosomal microarray) was launched in Odense  University Hospital (OUH) to be used instead of conventional karyotyping in pregnancies with a high risk evaluation in first trimester. In 2017 the Danish Board of Health (Sundhedsstyrelsen) issued a new guideline for prenatal diagnostics in which non-invasive prenatal testing (NIPT) is an alternative to invasive diagnostics in certain situations. OUH had already launched NIPT in 2016. 

Our aim is to analyze and report the results of the 2 first years using chromosomal microarray and NIPT in OUH in first trimester high risk patients, as well as analyzing the results of using microarray in malformation-evaluation and familial risks in the same period.

Our 4 main indications for prenatal diagnostics including genetic testing (based on Sundhedsstyrelsen´s 2017 guideline) are :

1.   Increased risk for Downs Syndrome at the combined first trimester risk evaluation. Non-invasive (NIPT) and invasive diagnostics (Chorion villus sampling (CVS), chromosomal microarray and possible exome sequencing).

2. The 'new' single criterion (high/low beta-HCG, low PAPP-A and maternal age ?45). Invasive diagnostics: CVS, chromosomal microarray.

3. Malformations seen at the midtrimester anatomy scan for fetal malformations. Invasive diagnostics (amniocentesis, chromosomal microarray and possible exome sequencing).

4. Familial risks, for example monogene diseases, translocations, etc. Invasive diagnostics (mutation tests, chromosomal microarray and possible exome sequencing).

Description of the cohort

Pregnant women

Data and biological material

Register data about fetal ultrasound results, biochemical markers (blood tests), and genetic results

Collaborating researchers and departments

Department of Gynaecology and Obstetrics, Odense University Hospital

• Consultant Geske Bak
• Consultant Lene Sperling, PhD

Department of Clinical Genetics, Odense University Hospital

• Consultant Christina Fagerberg
• Consultant Pernille Tørring, PhD
• PhD.student Aia Elise Jønch