An incidental finding of maternal multiple myeloma by non invasive prenatal testing

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An incidental finding of maternal multiple myeloma by non invasive prenatal testing

Medical Genetics and Cytogenetics Department, Carémeau University Hospital Center, Nîmes, France Medical Genetics and Cytogenetics Department, University Hospital Center, Montpellier, France Hematology Department, Mercy Hospital Center of Metz‐Thionville, Metz, France Cytogenetics Department, Mercy Hospital Center of Metz‐Thionville, Metz, France Multidisciplinary Prenatal Diagnosis Department,...

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Non-invasive prenatal testing.

BACKGROUND Non-invasive prenatal testing (NIPT), also known as cell-free DNA testing and non-invasive prenatal screening (NIPS), is an important addition to the range of screening tests for fetal chromosomal abnormalities. For trisomy 21 in particular, NIPT is superior to other screening modalities. However, NIPT has limitations and complexities that requesting clinicians and their patients sho...

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Non-Invasive Prenatal Testing of Trisomy 18 by an Epigenetic Marker in First Trimester Maternal Plasma

BACKGROUND Quantification of cell-free fetal DNA by methylation-based DNA discrimination has been used in non-invasive prenatal testing of fetal chromosomal aneuploidy. The maspin (Serpin peptidase inhibitor, clade B (ovalbumin), member 5; SERPINB5) gene, located on chromosome 18q21.33, is hypomethylated in the placenta and completely methylated in maternal blood cells. The objective of this st...

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Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies.

IMPORTANCE Understanding the relationship between aneuploidy detection on noninvasive prenatal testing (NIPT) and occult maternal malignancies may explain results that are discordant with the fetal karyotype and improve maternal clinical care. OBJECTIVE To evaluate massively parallel sequencing data for patterns of copy-number variations that might prospectively identify occult maternal malig...

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ژورنال

عنوان ژورنال: Prenatal Diagnosis

سال: 2017

ISSN: 0197-3851

DOI: 10.1002/pd.5168