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An uninformative NIPT as an early indicator of cri-du-chat due to a chromosomal 5;18 translocation-An atypical presentation of a rare cytogenetic phenomenon.
- Source :
-
Clinical case reports [Clin Case Rep] 2023 Jul 30; Vol. 11 (8), pp. e7732. Date of Electronic Publication: 2023 Jul 30 (Print Publication: 2023). - Publication Year :
- 2023
-
Abstract
- We present a patient with cri-du-chat syndrome secondary to a rare cytogenetic mechanism. Our patient was the product of a dichorionic diamniotic twin pregnancy initially flagged with soft markers on ultrasound and uninformative single-nucleotide polymorphism (SNP)-based noninvasive prenatal testing (NIPT) for chromosome 18. Subsequent NIPT using proprietary-targeted amplification methodology returned low risk for chromosomal aneuploidies 13, 18, and 21. Due to postnatal clinical findings, a clinical microarray and chromosomal karyotype confirmed cri-du-chat syndrome due to a de novo psu dic(5;18) (p15.2, p11.32). In this report we focus on these cytogenetic changes and discuss some of the current guidelines for prenatal microarray indications.<br />Competing Interests: All authors declare no conflict of interest.<br /> (© 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.)
Details
- Language :
- English
- ISSN :
- 2050-0904
- Volume :
- 11
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- Clinical case reports
- Publication Type :
- Report
- Accession number :
- 37529133
- Full Text :
- https://doi.org/10.1002/ccr3.7732