Fertility and sterility
Accuracy of direct mutation testing by TaqMan quantitative polymerase chain reaction for preimplantation genetic diagnosis of recurrent de novo mutations.
Diana Garro, Jia Xu, Deirdre Leahy, Jennifer Eccles, Nathan R Treff, Diego Marin
Published: 202510.1016/j.fertnstert.2025.12.004
Abstract
OBJECTIVE: To assess the accuracy and allele dropout (ADO) rate of preimplantation genetic testing for monogenic disease (PGT-M) when performing direct mutation testing alone, in the absence of family member-based linkage analysis. DESIGN: Retrospect…
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