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- Title
Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies.
- Authors
So, Po Lam; Hui, Annie Shuk Yi; Ma, Teresa Wei Ling; Shu, Wendy; Hui, Amelia Pui Wah; Kong, Choi Wah; Lo, Tsz Kin; Kan, Amanda Nim Chi; Kan, Elaine Yee Ling; Chong, Shuk Ching; Chung, Brian Hon Yin; Luk, Ho Ming; Choy, Kwong Wai; Kan, Anita Sik Yau; Leung, Wing Cheong
- Abstract
With the advancements in prenatal diagnostics, genome sequencing is now incorporated into clinical use to maximize the diagnostic yield following uninformative conventional tests (karyotype and chromosomal microarray analysis). Hong Kong started publicly funded prenatal genomic sequencing as a sequential test in the investigation of fetal structural anomalies in April 2021. The objective of the study was to evaluate the clinical performance and usefulness of this new service over one year. We established a web-based multidisciplinary team to facilitate case selection among the expert members. We retrospectively analyzed the fetal phenotypes, test results, turnaround time and clinical impact in the first 15 whole exome sequencing and 14 whole genome sequencing. Overall, the molecular diagnostic rate was 37.9% (11/29). De novo autosomal dominant disorders accounted for 72.7% (8/11), inherited autosomal recessive disorders for 18.2% (2/11), and inherited X-linked disorders for 9.1% (1/11). The median turnaround time for ongoing pregnancy was 19.5 days (range, 13–31 days). Our study showed an overall clinical impact of 55.2% (16/29), which influenced reproductive decision-making in four cases, guided perinatal management in two cases and helped future family planning in ten cases. In conclusion, our findings support the important role of genome sequencing services in the prenatal diagnosis of fetal structural anomalies in a population setting. It is important to adopt a multidisciplinary team approach to support the comprehensive genetic service.
- Subjects
HONG Kong (China); FETAL abnormalities; WHOLE genome sequencing; NUCLEOTIDE sequencing; TURNAROUND time; PRENATAL diagnosis; FAMILY planning
- Publication
Genes, 2022, Vol 13, Issue 11, p2088
- ISSN
2073-4425
- Publication type
Article
- DOI
10.3390/genes13112088