title: Prenatal diagnosis: types and techniques.
abstract: Up to 3% of UK pregnancies will be affected by congenital abnormality. Prenatal diagnosis allows the parents to make informed decisions about their pregnancy, healthcare professionals to optimise the antenatal care and families prepare for the birth of the baby. There are many techniques employed which range from the non-invasive ultrasonography to the highly invasive amniocentesis. This review explores the methods currently available in the UK as well as considering the newer minimally-invasive technologies available including cell-free fetal DNA and pre-implantation genetic diagnosis.
authors.affiliation: The Fetal Medicine Unit, Women's Centre, The John Radcliffe Hospital, Oxford, United Kingdom.
authors.forename: S L
authors.initials: SL
authors.lastname: Collins
authors.forename: L
authors.initials: L
authors.lastname: Impey
mesh_terms: D000649:Amniocentesis; D015193:Chorionic Villi Sampling; D000013:Congenital Abnormalities / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D017218:Cordocentesis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D005317:Fetal Growth Retardation / Q000175:diagnosis / Q000000981:diagnostic imaging; D005820:Genetic Testing / Q000379:methods*; D005865:Gestational Age; D006801:Humans; D008279:Magnetic Resonance Imaging; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012680:Sensitivity and Specificity; D016216:Ultrasonography, Prenatal / Q000379:methods