The approach to prenatal diagnosis has been revolutionised by advances in prenatal molecular diagnostics. The most important breakthrough in prenatal screening using maternal plasma cell-free fetal DNA as a non-invasive prenatal testing (NIPT) for fetal chromosomal abnormalities was discovered by Professor Dennis Lo from Hong Kong. Polymerase chain reaction (PCR) as a rapid aneuploidy test, and chromosomal microarray (CMA) for molecular karyotyping are going to replace traditional karyotyping. Whole exome sequencing (WES) and whole genome sequencing (WGS) are coming. Ultrasound does maintain a pivotal role, being the strongest link between the various tests in the new algorithms. New algorithms in prenatal diagnosis are evolving and becoming increasingly complicated (Figure 1, from Leung WC. New algorithms in prenatal diagnosis. MIMS JPOG 2017;43(2):81-8). The goal is to maximize the prenatal information for pregnant women and their families to make choices for their next generations.
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