Introduction: Molecular biology and genetics now occupy a central place in obstetrics and gynecology, offering innovative diagnostic, prognostic, and therapeutic tools. Objective: To describe the role of molecular biology and genetics in obstetrics and gynecology. Applications in Gynecology: In oncology, genetics allows us to identify new genes involved in breast, cervical, endometrial, and ovarian cancers, to identify high-risk patients, and to develop more tailored treatments to provide optimal care. Molecular biology and molecular genetics are essential for understanding infertility. They allow us to identify chromosomal, gene, and epigenetic abnormalities responsible for reproductive disorders. Applications in Obstetrics: Pregnancy is a complex physiological process involving genetic, epigenetic, hormonal, and immune interactions. Molecular abnormalities can disrupt its proper course, leading to various maternal or fetal pathologies. Prenatal diagnosis increasingly relies on molecular biology and molecular genetics. Conclusion: molecular biology and genetics allow for a better understanding of the fundamental mechanisms of reproduction, explain many causes of infertility, and shed light on the pathophysiology of the main pregnancy pathologies. These advances constitute not only powerful diagnostic and prognostic tools, but also drivers of progress toward precision obstetrics and gynecology, serving the health of women and the mother-child dyad.
References
[1]
Laudenbach, V., Mantz, J. and Desmonts, J.M. (1999) Comprendre la biologie moléculaire. Annales Françaises d’Anesthésie et de Réanimation, 18, 725-747. https://doi.org/10.1016/s0750-7658(00)88453-1
[2]
Alberts, B., Johnson, A., Lewis, J., Raff, M., Roberts, K. and Walter, P. (2002) Molecular Biology of the Cell. 4th Edition, Garland Science.
[3]
Khoury, M.J. and Romero, R. (2006) The Integration of Genomics into Obstetrics and Gynecology: A Huge Challenge. AmericanJournalofObstetricsandGynecology, 195, 1503-1505. https://doi.org/10.1016/j.ajog.2006.10.883
Sonoda, K. (2015) Molecular Biology of Gynecological Cancer. OncologyLetters, 11, 16-22. https://doi.org/10.3892/ol.2015.3862
[7]
Crosbie, E.J., Kitson, S.J., McAlpine, J.N., Mukhopadhyay, A., Powell, M.E. and Singh, N. (2022) Endometrial Cancer. TheLancet, 399, 1412-1428. https://doi.org/10.1016/s0140-6736(22)00323-3
[8]
Gonzalez-Angulo, A.M., Morales-Vasquez, F. and Hortobagyi, G.N. (2007) Overview of Resistance to Systemic Therapy in Patients with Breast Cancer. In: Yu, D.H. and Hung, M.-C., Eds., Breast Cancer Chemosensitivity, Springer, 1-22. https://doi.org/10.1007/978-0-387-74039-3_1
[9]
Lang-Avérous, G., Croce, S., Mery, E. and Devouassoux-Shisheboran, M. (2021) Sentinel Lymph Node Processing in Gynecological Cancer Histopathology and Molecular Biology. ChineseClinicalOncology, 10, 17. https://doi.org/10.21037/cco-20-192
[10]
Guarneri, V. and Conte, P.F. (2004) The Curability of Breast Cancer and the Treatment of Advanced Disease. EuropeanJournalofNuclearMedicineandMolecularImaging, 31, S149-S161. https://doi.org/10.1007/s00259-004-1538-5
[11]
Jiao, S.Y., Yang, Y.H. and Chen, S.R. (2020) Molecular Genetics of Infertility: Loss-Of-Function Mutations in Humans and Corresponding Knockout/Mutated Mice. HumanReproductionUpdate, 27, 154-189. https://doi.org/10.1093/humupd/dmaa034
[12]
Ferreux, L., Bourdon, M., Chargui, A., Schmitt, A., Stouvenel, L., Lorès, P., et al. (2021) Genetic Diagnosis, Sperm Phenotype and ICSI Outcome in Case of Severe Asthenozoospermia with Multiple Morphological Abnormalities of the Flagellum. HumanReproduction, 36, 2848-2860. https://doi.org/10.1093/humrep/deab200
[13]
Wen, X., Chai, M., Zhang, Q., Zou, H., Zhang, Z., Cao, Y., et al. (2024) Homozygous Variant of FANCM of the Fanconi Anemia Pathway Causes Premature Ovarian Insufficiency: Investigation of the Pathogenic Mechanism. Journal of Sichuan University. Medical Science Edition, 55, 559-565.
[14]
Wang, Q., Li, D., Cai, B., Chen, Q., Li, C., Wu, Y., et al. (2019) Whole-Exome Sequencing Reveals SALL4 Variants in Premature Ovarian Insufficiency: An Update on Genotype-Phenotype Correlations. HumanGenetics, 138, 83-92. https://doi.org/10.1007/s00439-018-1962-4
[15]
Chen, Q., Ke, H., Luo, X., Wang, L., Wu, Y., Tang, S., et al. (2020) Rare Deleterious BUB1B Variants Induce Premature Ovarian Insufficiency and Early Menopause. HumanMolecularGenetics, 29, 2698-2707. https://doi.org/10.1093/hmg/ddaa153
[16]
Wambergue, C., Zouari, R., Fourati Ben Mustapha, S., Martinez, G., Devillard, F., Hennebicq, S., et al. (2016) Patients with Multiple Morphological Abnormalities of the Sperm Flagella Due to DNAH1 Mutations Have a Good Prognosis Following Intracytoplasmic Sperm Injection. HumanReproduction, 31, 1164-1172. https://doi.org/10.1093/humrep/dew083
[17]
Lai, Z., Wang, Y., Zhou, W., Liang, Z., Shi, J., Yang, H., et al. (2022) Single-Cell Transcriptome Profiling of the Human Endometrium of Patients with Recurrent Implantation Failure. Theranostics, 12, 6527-6547. https://doi.org/10.7150/thno.74053
[18]
Colaco, S. and Modi, D. (2018) Genetics of the Human Y Chromosome and Its Association with Male Infertility. ReproductiveBiologyandEndocrinology, 16, Article No. 14. https://doi.org/10.1186/s12958-018-0330-5
[19]
Bennett, P.R., Brown, R.G. and MacIntyre, D.A. (2020) Vaginal Microbiome in Preterm Rupture of Membranes. ObstetricsandGynecologyClinicsofNorthAmerica, 47, 503-521. https://doi.org/10.1016/j.ogc.2020.08.001
[20]
Rout, M. and Lulu S, S. (2018) Molecular and Disease Association of Gestational Diabetes Mellitus Affected Mother and Placental Datasets Reveal a Strong Link between Insulin Growth Factor (IGF) Genes in Amino Acid Transport Pathway: A Network Biology Approach. JournalofCellularBiochemistry, 120, 1577-1587. https://doi.org/10.1002/jcb.27418
[21]
Feng, Y., Qu, X., Chen, Y., Feng, Q., Zhang, Y., Hu, J., et al. (2020) MicroRNA-33a-5p Sponges to Inhibit Pancreatic β-Cell Function in Gestational Diabetes Mellitus LncRNA DANCR. ReproductiveBiologyandEndocrinology, 18, Article No. 61. https://doi.org/10.1186/s12958-020-00618-8
[22]
Bhushan, R., Rani, A., Gupta, D., Ali, A. and Dubey, P.K. (2022) MicroRNA-7 Regulates Insulin Signaling Pathway by Targeting IRS1, IRS2, and RAF1 Genes in Gestational Diabetes Mellitus. MicroRNA, 11, 57-72. https://doi.org/10.2174/2211536611666220413100636
[23]
Taylor, A.H., Bachkangi, P. and Konje, J.C. (2023) Labour and Premature Delivery Differentially Affect the Expression of the Endocannabinoid System in the Human Placenta. HistochemistryandCellBiology, 160, 577-593. https://doi.org/10.1007/s00418-023-02236-y
[24]
Page, J.M. and Silver, R.M. (2016) Genetic Causes of Recurrent Pregnancy Loss. ClinicalObstetrics&Gynecology, 59, 498-508. https://doi.org/10.1097/grf.0000000000000217
[25]
Ohwaki, A., Nishizawa, H., Kato, A., Kato, T., Miyazaki, J., Yoshizawa, H., et al. (2020) Placental Genetic Variants in the Upstream Region of the FLT1 Gene in Pre-eclampsia. JournalofReproduction&Infertility, 21, 240-246. https://doi.org/10.18502/jri.v21i4.4328
[26]
Tan, C.Y., Ho, J.F.V., Chong, Y.S., Loganath, A., Chan, Y.H., Ravichandran, J., et al. (2008) Paternal Contribution of HLA-G*0106 Significantly Increases Risk for Pre-Eclampsia in Multigravid Pregnancies. MHR: BasicScienceofReproductiveMedicine, 14, 317-324. https://doi.org/10.1093/molehr/gan013
[27]
Hansen, A.T., Bernth Jensen, J.M., Hvas, A. and Christiansen, M. (2018) The Genetic Component of Preeclampsia: A Whole-Exome Sequencing Study. PLOSONE, 13, e0197217. https://doi.org/10.1371/journal.pone.0197217
[28]
Meng, Y., Meng, Y., Li, L., Li, Y., He, J. and Shan, Y. (2024) The Role of DNA Methylation in Placental Development and Its Implications for Preeclampsia. FrontiersinCellandDevelopmentalBiology, 12, Article ID: 1494072. https://doi.org/10.3389/fcell.2024.1494072
[29]
Brioude, F., Kalish, J.M., Mussa, A., Foster, A.C., Bliek, J., Ferrero, G.B., et al. (2018) Clinical and Molecular Diagnosis, Screening and Management of Beckwith-Wiedemann Syndrome: An International Consensus Statement. NatureReviewsEndocrinology, 14, 229-249. https://doi.org/10.1038/nrendo.2017.166
[30]
Wakeling, E.L., Brioude, F., Lokulo-Sodipe, O., O’Connell, S.M., Salem, J., Bliek, J., et al. (2016) Diagnosis and Management of Silver-Russell Syndrome: First International Consensus Statement. NatureReviewsEndocrinology, 13, 105-124. https://doi.org/10.1038/nrendo.2016.138
[31]
Lee, T., LeShane, E.S., Messerlian, G.M., Canick, J.A., Farina, A., Heber, W.W., et al. (2002) Down Syndrome and Cell-Free Fetal DNA in Archived Maternal Serum. AmericanJournalofObstetricsandGynecology, 187, 1217-1221. https://doi.org/10.1067/mob.2002.127462
[32]
Spencer, K., de Kok, J.B. and Swinkels, D.W. (2026) Increased Total Cell-Free DNA in the Serum of Pregnant Women Carrying a Fetus Affected by Trisomy 21. Prenatal Diagnosis, 23, 580-583. https://obgyn.onlinelibrary.wiley.com/doi/10.1002/pd.647