The fetus in the age of the genome

Dagmar Schmitz,Wolfram Henn

doi:10.1007/s00439-021-02348-2

Abstract

Due to a number of recent achievements, the field of prenatal medicine is now on the verge of a profound transformation into prenatal genomic medicine. This transformation is expected to not only substantially expand the spectrum of prenatal diagnostic and screening possibilities, but finally also to advance fetal care and the prenatal management of certain fetal diseases and malformations. It will come along with new and profound challenges for the normative framework and clinical care pathways in prenatal (and reproductive) medicine. To adequately address the potential ethically challenging aspects without discarding the obvious benefits, several agents are required to engage in different debates. The permissibility of the sequencing of the whole fetal exome or genome will have to be examined from a philosophical and legal point of view, in particular with regard to conflicts with potential rights of future children. A second requirement is a societal debate on the question of priority setting and justice in relation to prenatal genomic testing. Third, a professional-ethical debate and positioning on the goal of prenatal genomic testing and a consequential re-structuring of clinical care pathways seems to be important. In all these efforts, it might be helpful to envisage the unborn rather not as a fetus, not as a separate moral subject and a second “patient”, but in its unique physical connection with the pregnant woman, and to accept the moral quandaries implicitly given in this situation.

Highlights

The experience of pregnancy has changed radically throughout the last century
It is widely believed that future developments in prenatal genomic testing will enhance the power of clinical diagnostics, and clinical management by combining fetal whole-exome sequencing (WES)/whole genome sequencing (WGS) with non-invasive or minimally invasive sampling of fetal DNA or by offering expanded NGS panels for non-invasive prenatal diagnosis (NIPD) (Abou Tayoun and Mason-Suares 2019; Best et al 2018; Ferretti et al 2019; Mellis et al 2018)
Conflicts between the right of reproductive choice of the parents and the autonomy rights of future children are frequently recommended to be solved in favor of the parents to protect their reproductive rights (Hercher et al 2016)

Summary

Introduction

The experience of pregnancy has changed radically throughout the last century. Physicians increasingly explored ways of visualizing the unborn and measuring various parameters of physiological or pathological constitution, which in turn enabled them to act preventively or therapeutically in certain situations during pregnancy (for example in birth management). It is widely believed that future developments in prenatal genomic testing will enhance the power of clinical diagnostics, and clinical management by combining fetal WES/WGS with non-invasive or minimally invasive sampling of fetal DNA or by offering expanded NGS panels for NIPD (Abou Tayoun and Mason-Suares 2019; Best et al 2018; Ferretti et al 2019; Mellis et al 2018).

Results

Conclusion