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A point-of-care assay for genotyping women prior to ovarian stimulation with recombinant or human menopausal gonadotropins in assisted reproduction

Nilsson, Mathilda LU orcid ; Hjelmér, Ida LU ; Prahl, Alexandra LU ; Nenonen, Hannah LU and Lundberg Giwercman, Yvonne LU (2026) In Frontiers in Endocrinology 17.
Abstract

Objective: Prior to in vitro fertilization (IVF), physicians can choose either recombinant or urine-derived follicle-stimulating hormone (FSH) for ovarian stimulation. The common polymorphism N680S (rs6166) in the follicle-stimulating hormone receptor (FSHR) has been linked to individual variability in ovarian response to FSH stimulation and IVF outcomes, including live birth rates, highlighting its potential value in optimizing stimulation protocols. However, classical genotyping is laborious, often requiring blood as starting material and specialized laboratories for analysis. The aim of the study was to develop a system for rapid and easy-to-use genotyping of the FHSR N680S variant. Methods: The assay constituted an allele-specific... (More)

Objective: Prior to in vitro fertilization (IVF), physicians can choose either recombinant or urine-derived follicle-stimulating hormone (FSH) for ovarian stimulation. The common polymorphism N680S (rs6166) in the follicle-stimulating hormone receptor (FSHR) has been linked to individual variability in ovarian response to FSH stimulation and IVF outcomes, including live birth rates, highlighting its potential value in optimizing stimulation protocols. However, classical genotyping is laborious, often requiring blood as starting material and specialized laboratories for analysis. The aim of the study was to develop a system for rapid and easy-to-use genotyping of the FHSR N680S variant. Methods: The assay constituted an allele-specific peptide nucleic acid-mediated loop-mediated isothermal amplification (AS PNA-mediated LAMP) assay with a colorimetric detection system. The analytical performance was analyzed with naked-eye detection and verified with fluorescence amplification. Clinical validation was assessed on 50 patients visiting an IVF-clinic in whom the variant was confirmed with Sanger sequencing. Results: Ninety-one out of 100 samples were genotyped correctly, demonstrating 91% overall accuracy. Clinical sensitivity reached 86.8 [95% Cl 76.4-93.8%], while specificity was 100% [95% Cl 89.1-100%]. The test was performed by trained laboratory staff in less than one hour. Conclusion: The LAMP assay provides a rapid and user-friendly genotyping of the FSHR N680S, which makes it a valuable tool in point-of-care settings, where it may help guide treatment options prior to IVF.

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author
; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
FSHR, IVF, LAMP, ovarian stimulation, polymorphism, precision medicine
in
Frontiers in Endocrinology
volume
17
article number
1697345
publisher
Frontiers Media S. A.
external identifiers
  • scopus:105029959686
ISSN
1664-2392
DOI
10.3389/fendo.2026.1697345
language
English
LU publication?
yes
id
1c9386e6-9a18-4a1f-9373-d7d4382c2a0c
date added to LUP
2026-03-02 14:20:33
date last changed
2026-03-02 14:20:56
@article{1c9386e6-9a18-4a1f-9373-d7d4382c2a0c,
  abstract     = {{<p>Objective: Prior to in vitro fertilization (IVF), physicians can choose either recombinant or urine-derived follicle-stimulating hormone (FSH) for ovarian stimulation. The common polymorphism N680S (rs6166) in the follicle-stimulating hormone receptor (FSHR) has been linked to individual variability in ovarian response to FSH stimulation and IVF outcomes, including live birth rates, highlighting its potential value in optimizing stimulation protocols. However, classical genotyping is laborious, often requiring blood as starting material and specialized laboratories for analysis. The aim of the study was to develop a system for rapid and easy-to-use genotyping of the FHSR N680S variant. Methods: The assay constituted an allele-specific peptide nucleic acid-mediated loop-mediated isothermal amplification (AS PNA-mediated LAMP) assay with a colorimetric detection system. The analytical performance was analyzed with naked-eye detection and verified with fluorescence amplification. Clinical validation was assessed on 50 patients visiting an IVF-clinic in whom the variant was confirmed with Sanger sequencing. Results: Ninety-one out of 100 samples were genotyped correctly, demonstrating 91% overall accuracy. Clinical sensitivity reached 86.8 [95% Cl 76.4-93.8%], while specificity was 100% [95% Cl 89.1-100%]. The test was performed by trained laboratory staff in less than one hour. Conclusion: The LAMP assay provides a rapid and user-friendly genotyping of the FSHR N680S, which makes it a valuable tool in point-of-care settings, where it may help guide treatment options prior to IVF.</p>}},
  author       = {{Nilsson, Mathilda and Hjelmér, Ida and Prahl, Alexandra and Nenonen, Hannah and Lundberg Giwercman, Yvonne}},
  issn         = {{1664-2392}},
  keywords     = {{FSHR; IVF; LAMP; ovarian stimulation; polymorphism; precision medicine}},
  language     = {{eng}},
  publisher    = {{Frontiers Media S. A.}},
  series       = {{Frontiers in Endocrinology}},
  title        = {{A point-of-care assay for genotyping women prior to ovarian stimulation with recombinant or human menopausal gonadotropins in assisted reproduction}},
  url          = {{http://dx.doi.org/10.3389/fendo.2026.1697345}},
  doi          = {{10.3389/fendo.2026.1697345}},
  volume       = {{17}},
  year         = {{2026}},
}