title: Cell-free DNA testing: an aid to prenatal sonographic diagnosis.
abstract: Sonographic diagnosis of fetal abnormalities is based on the recognition of sonographic patterns associated with structural abnormalities. Although diagnosis in some situations, such as neural tube defects, gastroschisis, and omphalocoele, can be straightforward, in many situations, the constellation of fetal abnormalities suggest an underlying chromosomal or genetic cause. In these situations, invasive testing is needed to provide the information required to make a definitive diagnosis, and thus accurately counsel parents. Since the identification of cell-free fetal DNA in maternal plasma, the potential for non-invasive prenatal diagnosis is increasingly becoming possible. In this chapter, the current role and future potential of non-invasive prenatal diagnosis, combined with new molecular techniques as an aid to sonographic diagnosis, will be discussed.
authors.affiliation: Clinical and Molecular Genetics, UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, London, UK; Fetal Medicine Unit, University College London Hospitals NHS Foundation Trust, London, UK. Electronic address: l.chitty@ucl.ac.uk.
authors.forename: Lyn S
authors.initials: LS
authors.lastname: Chitty
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D000782:Aneuploidy; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002474:Cell-Free System; D004247:DNA / Q000097:blood*; D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D005315:Fetal Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D005333:Fetus; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D062145:Maternal Serum Screening Tests; D012732:Sex Determination Analysis; D016216:Ultrasonography, Prenatal
chemical_list: D004247:DNA
keywords: cell-free fetal DNA; fetal ultrasound; genetic syndromes; non-invasive prenatal diagnosis; prenatal diagnosis