4.4 Review

Overview and recent developments in cell-based noninvasive prenatal testing

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Article Genetics & Heredity

A novel method for noninvasive diagnosis of monogenic diseases from circulating fetal cells

Liang Chang et al.

Summary: A method for noninvasive prenatal testing of monogenic diseases by isolating fetal cells from maternal blood and using direct sequencing and targeted NGS-based SNP haplotyping was successfully established. The fetal origin of the cells and the identification of pathogenic mutations were confirmed through genetic analysis, showing consistent results with amniotic fluid samples. This single cell haplotyping method can be used for diagnosing various genetic diseases.

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Forever Connected: The Lifelong Biological Consequences of Fetomaternal and Maternofetal Microchimerism

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Summary: This article highlights the potential clinical applications and functional consequences of the bidirectional trafficking of intact cells between a pregnant woman and her fetus. Fetal cells may play a role in the pathogenesis of maternal disease and tissue repair, while maternal cells are essential in educating the fetal immune system and as a factor in transplant acceptance. The lifelong consequences of this exchange of cells between a mother and her child have profound implications in development, health, and disease.

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Enrichment of circulating trophoblasts from maternal blood using laminar microscale vortices

Ann-Sophie Vander Plaetsen et al.

Summary: The study demonstrated successful enrichment of CTs from maternal blood at weeks 11-13 of gestation using the VTX-1 Liquid Biopsy System, with a recovery rate estimated between two and six CTs. Additionally, spiking experiments showed a CT recovery rate of approximately 35% with around 1524 retained maternal blood cells.

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Article Multidisciplinary Sciences

Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell-based NIPT

Xinming Zhuo et al.

Summary: This study aimed to develop a rapid, robust, versatile, and low-cost next-generation sequencing method for cell-based non-invasive prenatal testing (NIPT) to distinguish individual fetal cells from maternal cells. By amplifying highly polymorphic genomic regions and utilizing specific SNPs, the method showed potential for single-cell genotyping and identification of disease-causing variants in genetic disorders.

PLOS ONE (2021)

Article Genetics & Heredity

Cell-based non-invasive prenatal diagnosis in a pregnancy at risk of cystic fibrosis

Line Dahl Jeppesen et al.

Summary: Cell-based NIPT accurately determined fetal variant status and differentiated fetal trophoblasts from maternal cells, suggesting a potential less invasive alternative to chorionic villous sampling in the future.

PRENATAL DIAGNOSIS (2021)

Article Obstetrics & Gynecology

Do fetal extravillous trophoblasts circulate in maternal blood postpartum?

Anne Looij et al.

ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA (2020)

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The Number of Circulating Fetal Extravillous Trophoblasts Varies from Gestational Week 6 to 20

Katarina Ravn et al.

REPRODUCTIVE SCIENCES (2020)

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Screening for Fetal Chromosomal Abnormalities ACOG Practice Bulletin Summary, Number 226

Nancy C. Rose et al.

OBSTETRICS AND GYNECOLOGY (2020)

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Kinship analysis on single cells after whole genome amplification

Jana Weymaere et al.

SCIENTIFIC REPORTS (2020)

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Cell-based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations

Lotte Hatt et al.

CLINICAL CASE REPORTS (2020)

Review Biochemistry & Molecular Biology

Human placenta and trophoblast development: key molecular mechanisms and model systems

Martin Knoefler et al.

CELLULAR AND MOLECULAR LIFE SCIENCES (2019)

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Development of the human placenta

Margherita Y. Turco et al.

DEVELOPMENT (2019)

Article Genetics & Heredity

Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis

Liesbeth Vossaert et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

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A Reappraisal of Circulating Fetal Cell Noninvasive Prenatal Testing

Meysam Rezaei et al.

TRENDS IN BIOTECHNOLOGY (2019)

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Factors affecting cell-free DNA fetal fraction and the consequences for test accuracy

Fergus Perry Scott et al.

JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE (2018)

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Biology of human primitive erythroblasts for application in noninvasive prenatal diagnosis

Zhou-Wei Huang et al.

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Article Materials Science, Biomaterials

Fetal nucleated red blood cell analysis for non-invasive prenatal diagnostics using a nanostructure microchip

Zhaobo He et al.

JOURNAL OF MATERIALS CHEMISTRY B (2017)

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Chromosomal mosaicism in the fetoplacental unit

Francesca Romana Grati et al.

BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY (2017)

Article Genetics & Heredity

Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing

Amy M. Breman et al.

PRENATAL DIAGNOSIS (2016)

Review Genetics & Heredity

Single-Cell Whole-Genome Amplification and Sequencing: Methodology and Applications

Lei Huang et al.

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 16 (2015)

Article Engineering, Biomedical

Isolation of nucleated red blood cells in maternal blood for Non-invasive prenatal diagnosis

Yeongje Byeon et al.

BIOMEDICAL MICRODEVICES (2015)

Article Genetics & Heredity

Single cell segmental aneuploidy detection is compromised by S phase

Eftychia Dimitriadou et al.

MOLECULAR CYTOGENETICS (2014)

Article Genetics & Heredity

Cell-free fetal DNA in maternal circulation after chorionic villous sampling

Mariarosaria Di Tommaso et al.

PRENATAL DIAGNOSIS (2013)

Article Genetics & Heredity

Identification of circulating fetal cell markers by microarray analysis

Marie Brinch et al.

PRENATAL DIAGNOSIS (2012)

Article Genetics & Heredity

Circulating cell-free DNA levels increase variably following chorionic villus sampling

Neeta L. Vora et al.

PRENATAL DIAGNOSIS (2010)

Article Obstetrics & Gynecology

Retrieval of trophoblast cells from the cervical canal for prediction of abnormal pregnancy: a pilot study

Anthony N. Imudia et al.

HUMAN REPRODUCTION (2009)

Article Developmental Biology

Georg Schmorl on trophoblasts in the maternal circulation

O. Lapaire et al.

PLACENTA (2007)

Review Genetics & Heredity

Fetal cells and DNA in maternal blood

L Jackson

PRENATAL DIAGNOSIS (2003)

Article Developmental Biology

Characterization of first trimester fetal erythroblasts for non-invasive prenatal diagnosis

M Choolani et al.

MOLECULAR HUMAN REPRODUCTION (2003)

Article Obstetrics & Gynecology

HLA-G expression in trophoblast cells circulating in maternal peripheral blood during early pregnancy

IJ van Wijk et al.

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY (2001)

Article Obstetrics & Gynecology

Apoptosis in maternal peripheral blood during pregnancy

A Kolialexi et al.

FETAL DIAGNOSIS AND THERAPY (2001)