200: The changing face of invasive diagnostic testing in the era of cell free fetal DNA

Al-Ibraheemi, Zainab; Rosenn, Barak; Nelson, Zoe; Porat, Natalie; Taylor, Dyese; Kalberer, Meredith

doi:10.1016/j.ajog.2016.11.104

Cited by 1 publication

(2 citation statements)

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“…The implementation of next generation sequencing for non-invasive prenatal screening of common aneuploidies on maternal serum cell free fetal DNA has resulted in a significant reduction in invasive prenatal procedures and significantly increased diagnostic yield in prenatal diagnosis [7,8]. A workflow for multi-indicator prenatal screening of pregnancies at risk and cytogenetic diagnosis of common aneuploidies and other cytogenomic abnormalities is shown in Figure 2.…”

Section: Discussionmentioning

confidence: 99%

“…Routine chromosome karyotyping, fluorescent in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA), and array comparative genomic hybridization (aCGH) analyses have been implemented using invasive chorionic villus sampling (CVS) and amniotic fluid (AF) specimens [1,2,3,4,5]. In the past decade, changes in and efficacies of indications for invasive prenatal diagnosis have been noted, especially with the introduction of a highly effective screening of common aneuploidies by non-invasive prenatal testing (NIPT) using next-generation sequencing on maternal serum cell free fetal DNA [6,7,8]. Despite all these technical advancements, correlating cell-based FISH and chromosome results to resolve pseudo-mosaicism by culture artifact, fetoplacental discrepancy by confined placental mosaicism (CPM), and true fetal mosaicism (TFM) is still a major challenge in both laboratory operation and result interpretation [9,10,11].…”

Section: Introductionmentioning

confidence: 99%

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Integrated FISH, Karyotyping and aCGH Analyses for Effective Prenatal Diagnosis of Common Aneuploidies and Other Cytogenomic Abnormalities

et al. 2019

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Current prenatal genetic evaluation showed a significantly increase in non-invasive screening and the reduction of invasive diagnostic procedures. To evaluate the diagnostic efficacy on detecting common aneuploidies, structural chromosomal rearrangements, and pathogenic copy number variants (pCNV), we performed a retrospective analysis on a case series initially analyzed by aneuvysion fluorescence in situ hybridization (FISH) and karyotyping then followed by array comparative genomic hybridization (aCGH). Of the 386 cases retrieved from the past decade, common aneuploidies were detected in 137 cases (35.5%), other chromosomal structural rearrangements were detected in four cases (1%), and pCNV were detected in five cases (1.3%). The relative frequencies for common aneuploidies suggested an under detection of sex chromosome aneuploidies. Approximately 9.5% of cases with common aneuploidies showed a mosaic pattern. Inconsistent results between FISH and karyotyping were noted in cases with pseudo-mosaicism introduced by culture artifact or variable cellular proliferation from cells with mosaic karyotypic complements under in vitro cell culture. Based on findings from this case series, cell-based FISH and karyotyping should be performed to detect common aneuploidies, structural chromosomal abnormalities, and mosaic pattern. DNA-based aCGH and reflex FISH should be performed to detect and confirm genomic imbalances and pCNV. Practice points to ensure the diagnostic accuracy and efficacy were summarized.

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Section: Discussionmentioning

confidence: 99%