1. The utility of genome‐wide cell‐free <scp>DNA</scp> screening in the prenatal diagnosis of <scp>Pallister‐Killian</scp> syndrome
- Author
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Tze Kin Lau, Tak Yeung Leung, Sunny Wai Hung Cheung, Matthew Hoi Kin Chau, Kwong Wai Choy, Yuen Ha Ting, Yvonne K. Kwok, Doris Yuk Man Lam, Wan Pang Chan, Mengmeng Shi, Xiaofan Zhu, and Yves Ville
- Subjects
Adult ,Male ,0301 basic medicine ,Oncology ,China ,medicine.medical_specialty ,Microarray ,Chromosome Disorders ,Prenatal diagnosis ,030105 genetics & heredity ,Cohort Studies ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,Pallister–Killian syndrome ,Predictive Value of Tests ,Pregnancy ,Prenatal Diagnosis ,Internal medicine ,Humans ,Medicine ,Genetic Testing ,Genetics (clinical) ,Chromosome 12 ,Retrospective Studies ,Comparative Genomic Hybridization ,Chromosomes, Human, Pair 12 ,030219 obstetrics & reproductive medicine ,business.industry ,Infant, Newborn ,Obstetrics and Gynecology ,Chromosome ,Retrospective cohort study ,Karyotype ,Microarray Analysis ,medicine.disease ,Cell-free fetal DNA ,Female ,business ,Cell-Free Nucleic Acids - 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.
- Published
- 2020