Case Report: Paternal Uniparental Isodisomy and Heterodisomy of Chromosome 16 With a Normal Phenotype.
Zhang X, Liu L, Liu Y, Pan X. Front Pediatr. 2021;9:732645. Published 2021 Oct 22. doi:10.3389/fped.2021.732645. Open Access: Learn more
Tags: Case Report / Case Series, 2021, China, RAAs
- Case report of a pregnancy with an NIPT result positive for trisomy 16. CMA of amniocytes revealed paternal UPD 16.
Expanding the application of non-invasive prenatal testing in the detection of foetal chromosomal copy number variations.
Wang C, Tang J, Tong K, et al. BMC Med Genomics. 2021;14(1):292. Published 2021 Dec 11. doi:10.1186/s12920-021-01131-6. Open Access: Learn more
Tags: Clinical Experience / Clinical Utility, 2021, China, RAAs, CNVs
- Study of 39,002 women who had NIPT. 473 pregnancies (1.213%) were screen positive for clinically significant fetal chromosome abnormalities by NIPT.
- PPVs for T21, T18, T13, SCA, RATs, and microdeletion/microduplication syndrome cases were 88.89%, 53.33%, 20.00%, 40.22%, 4.88%, and 49.02%, respectively.
- PPVs of CNVs of <5 Mb, 5–10 Mb, and >10 Mb were 54.55%, 38.46%, and 40.00%, respectively.
Noninvasive prenatal testing for fetal subchromosomal copy number variations and chromosomal aneuploidy by low-pass whole-genome sequencing
Yu D, Zhang K, Han M, et al. Mol Genet Genomic Med. 2019;7(6):e674. doi:10.1002/mgg3.674. Open Access: Learn more
Tags: Laboratory Performance / Laboratory Experience, 2019, China, RAAs, CNVs
- This publication reports on the development and evaluation of a low-pass whole genome sequencing assay for the detection of fetal CNVs and chromosomal aneuploidies in 20,003 pregnant women.
Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes
Liang D, Cram DS, Tan H, et al. Genet Med. 2019;21(9):1998-2006. doi:10.1038/s41436-019-0467-4. Open Access: Learn more
Tags: Clinical Experience / Clinical Utility, 2019, China, RAAs, CNVs
- This publication examined the clinical performance of Expanded NIPT for both aneuploidy and genome-wide microdeletion/microduplication syndromes in an all-risk pregnancy population. A cohort of 94,085 patients with singleton pregnancies were prospectively enrolled. This Expanded NIPT detected a clinically significant fetal chromosome abnormality in 1.2% of samples and calculated the respective PPVs for the screen positive abnormalities.
Non-invasive prenatal testing to detect chromosome aneuploidies in 57,204 pregnancies
Xue Y, Zhao G, Li H, et al. Mol Cytogenet. 2019;12:29. Published 2019 Jun 20. doi:10.1186/s13039-019-0441-5. Open Access: Learn more
Tags: Laboratory Performance / Laboratory Experience, 2019, China, RAAs
- This publication retrospectively examined the performance of Expanded NIPT for all chromosome aneuploidies in 57,204 pregnancies from the Suzhou area of China and highlighted potential biological reasons for discordant results.
Perinatal outcomes following cell-free DNA screening in >32 000 women: Clinical follow-up data from a single tertiary center
Liang D, Lin Y, Qiao F, et al. Prenat Diagn. 2018;38(10):755-764. doi:10.1002/pd.5328. Open Access: Learn more
Tags: Clinical Experience / Clinical Utility, 2018, China, RAAs, CNVs
- This publication retrospectively reviewed the follow-up information from 32,431 cases at a single tertiary care center offering Expanded NIPT.
Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center
Lau TK, Cheung SW, Lo PS, et al. Ultrasound Obstet Gynecol. 2014;43(3):254-264. doi:10.1002/uog.13277. Open Access: Learn more
Tags: Clinical Experience / Clinical Utility, 2014, China, RAAs, CNVs
- This publication reviewed the pregnancy outcomes of 1982 consecutive cases that had NIPT performed via low-coverage whole-genome sequencing, which included the common aneuploidies, other autosomal aneuploidies and partial deletions/duplications.