P856: Counseling and management of a maternal diagnosis of mosaic trisomy 8 ascertained through prenatal cell-free DNA screening

The patient’s gestational age precluded maternal serum screening for aneuploidy; therefore, the option of an alternate cfDNA through a single nucleotide variant-based (SNV-based) NGS platform focused on common aneuploidy detection was offered to the patient. The risks, benefits, and limitations of parental chromosome analysis, alternate cfDNA, and diagnostic fetal chromosome analysis were discussed. The patient elected personal cytogenetic analysis and the alternate cfDNA option. The patient declined fetal chromosome analysis through amniocentesis because of the risk for preterm labor.

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.103225
Primary Topic
Prenatal Screening and Diagnostics
Type
article
Field-Weighted Citation Impact
0.00
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article

P856: Counseling and management of a maternal diagnosis of mosaic trisomy 8 ascertained through prenatal cell-free DNA screening

Martin Gimovsky, Munir Nazir, Ethel Jolicoeur
Genetics in Medicine Open
Prenatal Screening and Diagnostics
article

P856: Counseling and management of a maternal diagnosis of mosaic trisomy 8 ascertained through prenatal cell-free DNA screening

Martin Gimovsky, Munir Nazir, Ethel Jolicoeur
article en

Abstract

The patient’s gestational age precluded maternal serum screening for aneuploidy; therefore, the option of an alternate cfDNA through a single nucleotide variant-based (SNV-based) NGS platform focused on common aneuploidy detection was offered to the patient. The risks, benefits, and limitations of parental chromosome analysis, alternate cfDNA, and diagnostic fetal chromosome analysis were discussed. The patient elected personal cytogenetic analysis and the alternate cfDNA option. The patient declined fetal chromosome analysis through amniocentesis because of the risk for preterm labor.

Genetics in Medicine OpenVol. 3
Newark Beth Israel Medical Center (US)
Openalex Percentile: Top 93%
Prenatal Screening and Diagnostics
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