1. The utility of genome-wide cell-free DNA screening in the prenatal diagnosis of Pallister-Killian syndrome.
- Author
-
Chau MHK, Lam DYM, Zhu X, Kwok YKY, Ting YH, Chan WP, Shi M, Cheung SWH, Lau TK, Ville Y, Leung TY, and Choy KW
- Subjects
- Adult, China epidemiology, Chromosome Disorders epidemiology, Chromosome Disorders genetics, Chromosomes, Human, Pair 12 genetics, Cohort Studies, Female, Genetic Testing methods, Genetic Testing statistics & numerical data, Humans, Infant, Newborn, Male, Microarray Analysis methods, Predictive Value of Tests, Pregnancy, Prenatal Diagnosis statistics & numerical data, Retrospective Studies, Young Adult, Cell-Free Nucleic Acids analysis, Chromosome Disorders diagnosis, Comparative Genomic Hybridization methods, Comparative Genomic Hybridization statistics & numerical data, Prenatal Diagnosis methods
- Abstract
Objective: To report genome-wide cell-free DNA (cfDNA) screening facilitating the diagnosis of Pallister-Killian syndrome (PKS)., Methods: This is a retrospective cohort analysis of positive genome-wide cfDNA screening results showing increased signal from chromosome 12 and the detection of PKS. The genome-wide cfDNA screening results and the subsequent investigations were reviewed., Results: Three singleton pregnancies (3/29007) from 2016 to 2017 yielded positive results indicating large gains on the entire p-arm of chromosome 12. In two cases, multiple structural abnormalities were detected by prenatal ultrasound and the couples opted for termination of pregnancy. Chromosomal microarray performed on fetal skin tissues of the two abortuses detected mosaic tetrasomy 12p, consistent with PKS. In the third case, karyotype and chromosomal microarray performed on an amniotic fluid sample also showed mosaic tetrasomy 12p. In each of the three cases, genome-wide cfDNA screening revealed a large gain on chromosome 12p; subsequent prenatal or postnatal diagnostic testing confirmed the diagnosis of PKS., Conclusion: We report the ability of genome-wide cfDNA screening to provide early suspicion and facilitate the subsequent genetic diagnosis of PKS. As genome-wide cfDNA screening becomes increasingly available, incidental diagnosis of partial aneuploidies is expected to increase., (© 2020 John Wiley & Sons, Ltd.)
- Published
- 2020
- Full Text
- View/download PDF