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Article

Single-Molecule Sequencing: A New Approach for Preimplantation Testing and Noninvasive Prenatal Diagnosis Confirmation of Fetal Genotype.

The Journal of molecular diagnostics : JMD - 1 Feb 2020

Rechitsky Svetlana, Kuliev Anver, San Ramon Geraldine, Tur-Kaspa Ilan, Wang Yin, Wang Wenjie, Wu Xueqing, Wang Li, Leigh Don, Cram David S

Abstract excerpt

We investigated the potential of next-generation sequencing (NGS) as an alternative method for preimplantation genetic testing of monogenic disease (PGT-M) with human leukocyte antigen (HLA) matching and for noninvasive prenatal diagnosis follow-up. The case involved parents who were carriers of the Fanconi anemia complementation group G (FANCG) 260delG mutation. After clinical PGT using conventional short tandem...

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PMID: 31751677
DOI: 10.1016/j.jmoldx.2019.10.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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