Chapter 9 - Noninvasive Prenatal Diagnosis of Monogenic Disorders

Abstract

Noninvasive prenatal diagnosis (NIPD) for monogenic disorders is relevant to couples that have a high risk of an affected pregnancy due to either a family history of a disorder or because of having been identified as carriers through a screening program. Alternatively, pregnancies where there is no known risk of a disorder that present with scan findings that have a differential diagnosis of a monogenic disorder may in certain circumstances apply for NIPD. As technology improves and costs decrease, testing is now becoming available for some disorders, although access is not yet equitable. This chapter explains the current state of play with NIPD, how the different testing methodologies such as next-generation sequencing and digital PCR are being applied, and the challenges associated with delivering NIPD for monogenic disorders.