ArticleClinical case reports2023
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.
Article in Clinical case reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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5 authors.
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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.
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