Prenatal diagnosis study using array comparative genomic hybridization for genotype-phenotype correlation in 772 fetuses

Costa, Beatriz; Grangeia, Ana; Galvão, Joana; Vaz, Diane; Melo, Mônica Barbosa de; Carraca, Teresa; Ramalho, Carla; Dória, Sofia

doi:10.1016/j.anndiagpath.2022.152059

Cited by 1 publication

(1 citation statement)

References 26 publications

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“…In this study, 80.7% (n = 422/523) of all prenatal cases had an abnormal US testing indication, of which 8.3% (n = 35/422) of those cases had pathogenic findings. These findings are consistent with other previous studies with diagnostic yields ranging from 6.5% to 9.6% (Brady et al, 2014;Costa et al, 2022;Patterson et al, 2021;Shaffer et al, 2012) (Figure 2a,b). POC arrays had a diagnostic yield of 16.3% (n = 52/319), 20 of these 52 cases were due to fetal demise and stillbirths, 13 cases were due to missed and spontaneous abortions as expected, while only 12 cases were due to recurrent pregnancy losses (RPL).…”

Section: T a B L Esupporting

confidence: 94%

Clinically significant findings in a decade‐long retrospective study of prenatal chromosomal microarray testing

Olayiwola,

Marhabaie,

Koboldt

et al. 2024

Molec Gen & Gen Med

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BackgroundChromosomal microarray (CMA) is commonly utilized in the obstetrics setting. CMA is recommended when one or more fetal structural abnormalities is identified. CMA is also commonly used to determine genetic etiologies for miscarriages, fetal demise, and confirming positive prenatal cell‐free DNA screening results.MethodsIn this study, we retrospectively examined 523 prenatal and 319 products‐of‐conception (POC) CMA cases tested at Nationwide Children's Hospital from 2011 to 2020. We reviewed the referral indications, the diagnostic yield, and the reported copy number variants (CNV) findings. Results.In our cohort, the diagnostic yield of clinically significant CNV findings for prenatal testing was 7.8% (n = 41/523) compared to POC testing (16.3%, n = 52/319). Abnormal ultrasound findings were the most common indication present in 81% of prenatal samples. Intrauterine fetal demise was the common indication identified in POC samples. The most common pathogenic finding observed in all samples was isolated trisomy 21, detected in seven samples.ConclusionOur CMA study supports the clinical utility of prenatal CMA for clinical management and identifying genetic etiology in POC arrays. In addition, it provides insight to the spectrum of prenatal and POC CMA results as detected in an academic hospital clinical laboratory setting that serves as a reference laboratory.

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Section: T a B L Esupporting

confidence: 94%