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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.

Original publication




Journal article


Early Hum Dev

Publication Date





3 - 8


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