Isolation and Enrichment of Circulating Fetal Cells for NIPD: An Overview

Sabbatinelli, Giulia; Fantasia, Donatella; Palka, Chiara; Morizio, Elisena; Alfonsi, Melissa; Calabrese, Giuseppe

doi:10.3390/diagnostics11122239

Cited by 9 publications

(12 citation statements)

References 94 publications

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“…There is clear evidence to support the use of exome sequencing in multi-system congenital abnormalities, however does it offer additional yield in single system disease? The evidence from the cohorts that have followed the PAGE Study and Petrovski et al demonstrate significant incremental diagnostic yield of exome sequencing as a secondary diagnostic genetic test for single system congenital abnormalities, with particular focus on cardiac and neurological anomalies, increased nuchal translucency and non-immune fetal hydrops [ 29 , 32 , 33 , 36 ]. This supports its translation into routine clinical practice in Fetal Medicine departments for the diagnosis of monogenic conditions in fetuses with both multi- and single system abnormalities.…”

Section: Discussionmentioning

confidence: 99%

“…There are a number of reports in the literature reporting routine use for pregnancies where there is a relevant family history of a specific disorder [ 24 , 25 , 26 , 27 ]. There is ongoing translational research into circulating fetal cells and circulating fetal trophoblast cells (CFTCs) for NIPD of monogenic disease [ 28 , 29 ]. CFTCs could potentially be used for diagnosis of triplet repeat expansions or point mutations, variants which cffDNA cannot pick up.…”

Section: Cell Free Fetal Dna (Cffdna) Based Testingmentioning

confidence: 99%

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Next Generation Sequencing after Invasive Prenatal Testing in Fetuses with Congenital Malformations: Prenatal or Neonatal Investigation

Emms

Castleman

Allen

et al. 2022

Genes

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Congenital malformations diagnosed by ultrasound screening complicate 3–5% of pregnancies and many of these have an underlying genetic cause. Approximately 40% of prenatally diagnosed fetal malformations are associated with aneuploidy or copy number variants, detected by conventional karyotyping, QF-PCR and microarray techniques, however monogenic disorders are not diagnosed by these tests. Next generation sequencing as a secondary prenatal genetic test offers additional diagnostic yield for congenital abnormalities deemed to be potentially associated with an underlying genetic aetiology, as demonstrated by two large cohorts: the ‘Prenatal assessment of genomes and exomes’ (PAGE) study and ‘Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study’ performed at Columbia University in the US. These were large and prospective studies but relatively ‘unselected’ congenital malformations, with little Clinical Genetics input to the pre-test selection process. This review focuses on the incremental yield of next generation sequencing in single system congenital malformations, using evidence from the PAGE, Columbia and subsequent cohorts, with particularly high yields in those fetuses with cardiac and neurological anomalies, large nuchal translucency and non-immune fetal hydrops (of unknown aetiology). The total additional yield gained by exome sequencing in congenital heart disease was 12.7%, for neurological malformations 13.8%, 13.1% in increased nuchal translucency and 29% in non-immune fetal hydrops. This demonstrates significant incremental yield with exome sequencing in single-system anomalies and supports next generation sequencing as a secondary genetic test in routine clinical care of fetuses with congenital abnormalities.

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Section: Discussionmentioning

confidence: 99%

Section: Cell Free Fetal Dna (Cffdna) Based Testingmentioning

confidence: 99%

Next Generation Sequencing after Invasive Prenatal Testing in Fetuses with Congenital Malformations: Prenatal or Neonatal Investigation

Emms

Castleman

Allen

et al. 2022

Genes

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“…Since then, how to isolate fetal cells from maternal blood for analysis as a non-invasive prenatal diagnosis has become the “Holy Grail” of prenatal testing. There are several types of fetal cells that can be isolated from the peripheral blood of pregnant women [ 10 ]. Among them, the most studied cell types are fetal extravillous trophoblasts (fEVTs), or fetal nucleated red blood cells (fnRBCs).…”

Section: Cell Based Nipdmentioning

confidence: 99%

“…fEVTs are cells which originate and differentiate from anchoring villi that attach to the uterine wall, and can be detected in the peripheral blood of pregnant women during the first trimester [ 10 ]. Therefore, many studies have used fEVTs as target cells for NIPD.…”

Section: Cell Based Nipdmentioning

confidence: 99%

“…Since the first detection of fetal cells from maternal blood by Walknowsk et al, many studies have attempted to isolate CFCs for NIPD using various non-microfluidic approaches. However, the results of these studies are not sufficient to support the clinical application of cell based NIPD, because of the low recovery rate of CFCs [ 10 , 27 ]. With the advances in enrichment technology of circulating rare cells (CRCs) over the past few years, research related to CRCs have increased rapidly, even reaching about 2000 articles per year on PubMed.…”

Section: Cell Based Nipdmentioning

confidence: 99%

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Recent Advances of Microfluidic Platform for Cell Based Non-Invasive Prenatal Diagnosis

Jou

Lo²,

Ling³

2023

IJMS

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The purpose of the present review is to try to highlight recent advances in the application of microfluidic technology on non-invasive prenatal diagnosis (NIPD). The immunoaffinity based microfluidic technology is the most common approach for NIPD, followed by size-based microfluidic methods. Immunoaffinity microfluidic methods can enrich and isolate circulating fetal extravillous trophoblasts (fEVTs) or fetal nucleated red blood cells (fnRBCs) for NIPD by using specific antibodies, but size-based microfluidic systems are only applied to isolate fEVTs. Most studies based on the immunoaffinity microfluidic system gave good results. Enough fetal cells were obtained for chromosomal and/or genetic analysis in all blood samples. However, the results from studies using size-based microfluidic systems for NIPD are less than ideal. In conclusion, recent advances in microfluidic devices make the immunoaffinity based microfluidic system potentially a powerful tool for cell-based NIPD. However, more clinical validation is needed.

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Integrated Microfluidics for Single‐Cell Separation and On‐Chip Analysis: Novel Applications and Recent Advances

Kutluk,

Viefhues,

Constantinou

2024

Small Science

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From deciphering infection and disease mechanisms to identifying novel biomarkers and personalizing treatments, the characteristics of individual cells can provide significant insights into a variety of biological processes and facilitate decision‐making in biomedical environments. Conventional single‐cell analysis methods are limited in terms of cost, contamination risks, sample volumes, analysis times, throughput, sensitivity, and selectivity. Although microfluidic approaches have been suggested as a low‐cost, information‐rich, and high‐throughput alternative to conventional single‐cell isolation and analysis methods, limitations such as necessary off‐chip sample pre‐ and post‐processing as well as systems designed for individual workflows have restricted their applications. In this review, a comprehensive overview of recent advances in integrated microfluidics for single‐cell isolation and on‐chip analysis in three prominent application domains are provided: investigation of somatic cells (particularly cancer and immune cells), stem cells, and microorganisms. Also, the use of conventional cell separation methods (e.g., dielectrophoresis) in unconventional or novel ways, which can advance the integration of multiple workflows in microfluidic systems, is discussed. Finally, a critical discussion related to current limitations of integrated microfluidic single‐cell workflows and how they could be overcome is provided.

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Isolation and Enrichment of Circulating Fetal Cells for NIPD: An Overview

Cited by 9 publications

References 94 publications

Next Generation Sequencing after Invasive Prenatal Testing in Fetuses with Congenital Malformations: Prenatal or Neonatal Investigation

Next Generation Sequencing after Invasive Prenatal Testing in Fetuses with Congenital Malformations: Prenatal or Neonatal Investigation

Recent Advances of Microfluidic Platform for Cell Based Non-Invasive Prenatal Diagnosis

Integrated Microfluidics for Single‐Cell Separation and On‐Chip Analysis: Novel Applications and Recent Advances

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