Prenatal diagnosis of genetic disorders. Issue 10 (October 2018)

• Record Type: Journal Article
• Authors: Johnson, Katie; Eason, Jacqueline
• Is Part Of: Obstetrics, gynaecology & reproductive medicine. Volume 28:Issue 10(2018:Oct.)
• Page Start: 308
• Page End: 313
• Publication Date: 2018-10
• Subjects: fetal DNA -- inborn errors -- MLPA -- molecular -- non-invasive -- prenatal diagnosis -- sequencing -- single gene; Gynecology -- Periodicals; Obstetrics -- Periodicals; 618
• DOI: 10.1016/j.ogrm.2018.09.002
• Languages: English
• ISSNs: 1751-7214

Abstract

Abstract: Genetic disease can occur due to imbalance of whole chromosomes, smaller chromosome microdeletions or duplications, or at the single-gene level where even a single base change can cause significant disease. This review focuses on the methods available to achieve genetic diagnosis of a fetus in pregnancy, both in the context of a family history of a known disease-causing mutation and where there is clinical suspicion of a genetic disorder based on ultrasound findings. Until recently, genetic testing of a fetus invariably required invasive procedures to sample fetal tissue, with associated risk of miscarriage. However, non-invasive methods of achieving prenatal diagnosis by sampling fetal DNA present in maternal blood have undergone considerable development. Current applications and future utility of these techniques are discussed.