Improved prenatal screening and diagnostics in singleton pregnancies – who should be offered which tests?

​Aspects of current prenatal screening will be assessed to develop tools to help improve prospective screening and diagnosis of fetal genetic disease.

​​​A research project by Kasper Gadsbøll

In Denmark, all pregnant women are offered prenatal screening to gain information about the pregnancy. In case of severe fetal morbidity, information obtained from the screening and optional invasive diagnostic procedures help clinicians to provide optimal care for the family. 

Prenatal screening has traditionally focused on identifying fetuses with the common trisomies (trisomy 13, 18 and 21). Since 2013, screening for trisomies and sex chromosome anomalies (SCA) has been possible from isolated cell-free fetal DNA in maternal plasma (Noninvasive prenatal testing (NIPT)). However, new sensitive techniques for chromosomal analysis have increased the detection of subtle, but clinically important, chromosomal anomalies. These atypical chromosomal anomalies (i.e. non-trisomy and non-SCA) seemingly account for a major proportion of clinically relevant anomalies, many of which are not detectable by NIPT. The new and sensitive techniques for chromosomal analysis identifies most anomalies, but we still need to find a way to identify the “real” high-risk women who should be offered these tests. 
To optimize and individualize care for women and their newborns, this PhD project aims to assess aspects of current prenatal screening and to develop tools to help improve prenatal screening and diagnosis prospectively.

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