Prenatal diagnosis: types and techniques

S L Collins; L Impey

doi:10.1016/j.earlhumdev.2011.11.003

Prenatal diagnosis: types and techniques

Early Hum Dev. 2012 Jan;88(1):3-8. doi: 10.1016/j.earlhumdev.2011.11.003.

Authors

S L Collins¹, L Impey

Affiliation

¹ The Fetal Medicine Unit, Women's Centre, The John Radcliffe Hospital, Oxford, United Kingdom.

PMID: 22196141
DOI: 10.1016/j.earlhumdev.2011.11.003

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.

Publication types

Review

MeSH terms

Amniocentesis
Chorionic Villi Sampling
Congenital Abnormalities / diagnosis
Congenital Abnormalities / diagnostic imaging
Congenital Abnormalities / genetics
Cordocentesis
Female
Fetal Diseases / diagnosis*
Fetal Diseases / diagnostic imaging
Fetal Diseases / genetics
Fetal Growth Retardation / diagnosis
Fetal Growth Retardation / diagnostic imaging
Genetic Testing / methods*
Gestational Age
Humans
Magnetic Resonance Imaging
Pregnancy
Prenatal Diagnosis / methods*
Sensitivity and Specificity
Ultrasonography, Prenatal / methods