A new comprehensive paradigm for Prenatal Diagnosis.

A new comprehensive paradigm for Prenatal Diagnosis. Ultrasound Obstet Gynecol. 2018 Feb 26;: Authors: Borrell A 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. PMID: 29484739 [PubMed - as supplied by publisher]
Source: The Ultrasound Review of Obstetrics and Gynecology - Category: Radiology Authors: Tags: Ultrasound Obstet Gynecol Source Type: research