Amniocentesis is still the best option for advanced genomic testing in case of fetal malformations

With the introduction of non‐invasive prenatal testing (NIPT), most health care professionals and patients understandably favor this safe modality over invasive procedures. At present, however, NIPT does not allow for the most advanced genomic test available: fetal whole exome sequencing (WES). With WES, the sequence of all coding genes is interrogated, which presumably has a high diagnostic yield in fetuses with congenital malformations.
In this paper, we argue that invasive testing for WES should be offered to all pregnant women who carry a chromosomally normal fetus with ultrasound anomalies. We believe that the ethical challenges of WES are not new to prenatal diagnosis and they can be faced and solved by dedicated counseling. Moreover, new evidence shows an amniocentesis‐related miscarriage risk of 1 in 1000, which is considerably lower than previously thought. By providing adequate counseling and offering women a choice between NIPT and invasive testing, the aim of prenatal testing—reproductive autonomy—will be best served.