A new comprehensive paradigm for Prenatal Diagnosis

ABSTRACT Prenatal diagnosis of birth defects initially targeted Down syndrome and neural tube defects. Screening for fetal structural anomalies has expanded to screen any relevant malformation by means of a universal ultrasound scan. Although it is now apparent that clinically relevant genetic anomalies have a similar 3% birth prevalence, prenatal diagnosis programs still focus on Down syndrome. A new comprehensive paradigm is suggested, that provides information on all three groups of genetic disorders, chromosomal, submicroscopic and single‐gene, causing intellectual and neurodevelopmental disability. Ideally, pregnant women should be informed of their options for prenatal testing including screening by cell‐free DNA, invasive testing for karyotyping (for chromosomal anomalies), chromosomal microarray analysis (for submicroscopic anomalies), as well as carrier screening for common recessive single‐gene disorders. Such a comprehensive program should be universally implemented to preserve equity and should be presented in a non‐directive manner to account for personal choice, autonomy and existing resources.
Source: Ultrasound in Obstetrics and Gynecology - Category: Radiology Authors: Tags: Editorial Source Type: research