Introduction

Advances in fetal imaging, genomics, and minimally invasive techniques, as well as a better understanding of the natural history of many fetal diseases, mainly from animal studies, have over the past few years revolutionised the management of many fetal conditions diagnosed prenatally. Although the challenge in modern obstetrics still remains to a large extent the prevention of preterm labour, pre-eclampsia, and cerebral palsy, many fetal conditions exist for which treatment is possible and gives a good postnatal outcome. For many pregnant patients this is an option that years ago would have been denied them.

The principal purpose of antenatal screening programmes is to identify diseases and then to give the parents the option of termination of pregnancy in the event of an affected fetus. “Wrongful birth” resulting from failed prenatal diagnosis has become a major source of litigation for the NHS and is at least on a par with birth asphyxia and cerebral palsy.

Sources and selection criteria

Prenatal screening has also moved on considerably since the last review on this topic in the BMJ in 1998.1 This review will deal with many of the developments that have occurred over the past few years. In preparing this review we did a PubMed literature search to obtain up to date references on recent advances in fetal medicine. In addition, we obtained guidelines pertaining to antenatal care from the National Institute for Clinical Excellence's website (http://www.nice.org.uk/). We obtained information about the ongoing North American spina bifida study from colleagues and fellow members of the International Fetal Medicine and Surgery Society.

Prenatal screening

As more than 90% of structural and chromosomal abnormalities arise …