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Prenatal Diagnosis and Screening provides an introduction to the concept of prenatal screening and diagnosis of conditions likely to affect the fetus. All aspects of prenatal screening and diagnosis will be covered, starting with maternal conditions that affect the fetus, the 11-13+6 and 20-22 week ultrasound scan, chromosome and non-chromosomal abnormalities, screening for common pregnancy complications, principles of screening using non-invasive tests such as ultrasound, Magnetic Resonance imaging (MRI), invasive and non-invasive prenatal diagnosis techniques, newer methods of genetic diagnosis including microarrays, whole exome and whole genome sequencing, the role of the geneticist, and lab techniques including cytogenetics and PCR for single gene disorders.

After taking this module you should be able to demonstrate a knowledge of:

• Prenatal screening and diagnosis including features that are commonly found on ultrasound scans, MRI, maternal blood tests and other tests, and the diagnoses that can be made;
• The role of the geneticist and lab techniques used for prenatal diagnosis for chromosome abnormalities, genetic syndromes and single gene disorders such as haemoglobinopathies;
• Appreciate the patient perspective on prenatal diagnosis and screening, and the importance of counselling and decision-making
• The clinical screening and diagnosis work carried out in a fetal medicine unit;
• Provide a basis for understanding the Fetal Medicine MSc module.

The module consists of lectures, tutorials, workshops and a journal club session where you learn to present your critical appraisal of a research paper. ThereÌýare opportunities to attend Fetal Medicine Unit teaching sessions, and to gain insight into genetic testing through observation at clinical diagnostic laboratories.

Introductory reading:

Prenatal Diagnosis Special Issue: Non-invasive prenatal testing 10-years on.
September 2021. Volume 41, Issue 10. Pages: 1185-1359
https://obgyn.onlinelibrary.wiley.com/toc/10970223/2021/41/10

Prenatal Diagnosis Special Issue: Special Topic Issue on Ultrasound and Genetic syndromes Pages: i, 661-829. August 2019 Volume 39, Issue 9
https://obgyn.onlinelibrary.wiley.com/toc/10970223/2019/39/9

In case you missed it: The Prenatal Diagnosis editors bring you the most significant advances of 2019 in Prenatal Diagnosis. Article by LS Chitty; L Hui; A Ghidini; B Levy; J Deprest; T Van Mieghem; DW Bianchi

Right or wrong? Looking through the retrospectoscope to analyse predictions made a decade ago in prenatal diagnosis and fetal surgery in Prenatal Diagnosis. Article by Lyn S. Chitty; Alessandro Ghidini; Jan Deprest; Tim Van Mieghem; Brynn Levy; Lisa Hui; Diana W. Bianchi

In case you missed it: The prenatal diagnosis editors bring you the most significant advances of 2018 in Prenatal Diagnosis. Article by Alessandro Ghidini; Diana W. Bianchi; Brynn Levy; Tim Van Mieghem; Jan Deprest; Lyn S. Chitty

Early fetal therapy in Prenatal Diagnosis. Article by Charles Rodeck