Abstract
The objective of this pilot study was to characterize healthcare professionals’ knowledge of advanced paternal age (APA), the associated risks, as well as current clinical practices regarding APA. Our study utilized an online survey that questioned providers who see children with genetic conditions and patients who are or may become pregnant regarding demographic information, APA knowledge, APA guideline familiarity, and their clinical practices. A total of 67 providers responded to the survey. We had responses from 54 physician participants in the specialties of medical genetics (GEN), maternal fetal medicine (MFM), and obstetrics and gynecology (OBGYN). OBGYN, but not MFM, reported significantly lower agreement that current data supports an association between APA and certain genetic diseases compared to GEN. Furthermore, OBGYN were less likely to identify established risks associated with APA and more likely to incorrectly identify unestablished risks compared to GEN and MFM. Regardless of specialty, the majority of physicians were unfamiliar with the most recently published APA guidelines. This study revealed a desire for more information regarding APA risks and management among our participants. Our data suggest that GEN, MFM, and OBGYN would benefit from updated and more visible guidelines regarding APA. Additionally, OBGYN consistently showed knowledge gaps and misconceptions regarding the risks of APA. Targeted educational or guidance materials regarding APA may also be beneficial for OBGYNs.
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The data that support the findings of this study are available from the corresponding author (LW, leahweth@iu.edu) upon reasonable request.
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References
Advanced paternal age: risks to the fetus. Number 189, October 1997. Committee on Genetics. American College of Obstetricians and Gynecologists (1997) Int J Gynaecol Obstet 59(3):271–272
Brandt JS, Cruz Ithier MA, Rosen T, Ashkinadze E (2019) Advanced paternal age, infertility, and reproductive risks: A review of the literature. Prenat Diagn 39(2):81–87. https://doi.org/10.1002/pd.5402
Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P et al (2015) Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Eur J Hum Genet 23(11):1438–1450. https://doi.org/10.1038/ejhg.2015.57
Dviri M, Madjunkova S, Koziarz A, Antes R, Abramov R, Mashiach J et al (2020) Is there a correlation between paternal age and aneuploidy rate? An analysis of 3,118 embryos derived from young egg donors. Fertil Steril 114(2):293–300. https://doi.org/10.1016/j.fertnstert.2020.03.034
Female age-related fertility decline. Committee Opinion No. 589 (2014) Fertility and Sterility 101(3): 633-634. https://doi.org/10.1016/j.fertnstert.2013.12.032
Harris PA, Taylor R, Thielke R, Payne J, Gonzalez N, Conde JG (2009) Research electronic data capture (REDCap)—a metadata-driven methodology and workflow process for providing translational research informatics support. J Biomed Inform 42(2):377–381. https://doi.org/10.1016/j.jbi.2008.08.010
Harris PA, Taylor R, Minor BL, Elliott V, Fernandez M, O'Neal L et al (2019) The REDCap consortium: building an international community of software platform partners. J Biomed Inform 95:103208. https://doi.org/10.1016/j.jbi.2019.103208
Hook EB (1981) Rates of chromosome abnormalities at different maternal ages. Obstet Gynecol 58(3):282–285
Hook EB, Cross PK, Schreinemachers DM (1983) Chromosomal abnormality rates at amniocentesis and in live-born infants. JAMA 249(15):2034–2038
Hultman CM, Sandin S, Levine SZ, Lichtenstein P, Reichenberg A (2011) Advancing paternal age and risk of autism: new evidence from a population-based study and a meta-analysis of epidemiological studies. Mol Psychiatry 16(12):1203–1212. https://doi.org/10.1038/mp.2010.121
Joinau-Zoulovits F, Bertille N, Cohen JF, Khoshnood B (2020) Association between advanced paternal age and congenital heart defects: a systematic review and meta-analysis. Hum Reprod 35(9):2113–2113. https://doi.org/10.1093/humrep/deaa105
Khandwala YS, Zhang CA, Lu Y, Eisenberg ML (2017) The age of fathers in the USA is rising: an analysis of 168 867 480 births from 1972 to 2015. Hum Reprod 32(10):2110–2116. https://doi.org/10.1093/humrep/dex267
McIntosh G, Olshan A, Baird P (1995) Paternal age and the risk of birth defects in offspring. Epidemiologiy 6:282–288
Miller B, Messias E, Miettunen J, Alaraisanen A, Jarvelin MR, Koponen H et al (2011) Meta-analysis of paternal age and schizophrenia risk in male versus female offspring. Schizophr Bull 37(5):1039–1047. https://doi.org/10.1093/schbul/sbq011
Nybo Andersen AM, Urhoj SK (2017) Is advanced paternal age a health risk for the offspring? Fertil Steril 107(2):312–318. https://doi.org/10.1016/j.fertnstert.2016.12.019
Practice advisory: Cell-free DNA to screen for single-gene disorders (2020) Retrieved from https://www.acog.org/clinical/clinical-guidance/practice-advisory/articles/2019/02/cell-free-dna-to-screen-for-single-gene-disorders
Quirin K, Hines KA, Wetherill L (2020) Genetic counseling for advanced paternal age: a survey of genetic counselors' current practice. J Genet Couns. https://doi.org/10.1002/jgc4.1328
Simard M, Laprise C, Girard SL (2019) Impact of paternal age at conception on human health. Clin Chem 65(1):146–152. https://doi.org/10.1373/clinchem.2018.294421
Team, R. C (2014) R: A language and environment for statistical computing. Australia R Foundation for Statistical Computing, Vienna
Toriello HV, Meck JM (2008) Statement on guidance for genetic counseling in advanced paternal age. Genet Med 10(6):457–460. https://doi.org/10.1097/GIM.0b013e318176fabb
Tsao DS, Silas S, Landry BP, Itzep NP, Nguyen AB, Greenberg S et al (2019) A novel high-throughput molecular counting method with single base-pair resolution enables accurate single-gene NIPT. Sci Rep 9(1):14382. https://doi.org/10.1038/s41598-019-50378-8
Wickham H (2009) Ggplot2: elegant graphics for data analysis, 2nd edn. Springer, New York. https://doi.org/10.1007/978-0-387-98141-3
Yatsenko AN, Turek PJ (2018) Reproductive genetics and the aging male. J Assist Reprod Genet 35(6):933–941. https://doi.org/10.1007/s10815-018-1148-y
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J et al (2019) Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med 25(3):439–447. https://doi.org/10.1038/s41591-018-0334-x
Acknowledgements
We thank Dr. David Haas for his assistance in disseminating the electronic survey to the Central Association of Obstetricians and Gynecologists. We also thank the Department of Medical and Molecular Genetics at the Indiana University School of Medicine for providing monetary funds and coordination of gift card purchases.
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Gift cards were purchased by the Department of Medical and Molecular Genetics, Indiana University School of Medicine.
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All authors contributed to the study conception and design. Material preparation and data collection was performed by Joseph Biddle. Data analyses were performed by Joseph Biddle and Leah Wetherill. The first draft of the manuscript was written by Joseph Biddle, and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.
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All procedures followed were in accordance with the ethical standards of Indiana University and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all respondents for being included in the study.
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Biddle, J.F., Wetherill, L., Geddes, G.C. et al. OBGYN providers’ lack of knowledge and management of genetic risks due to advanced paternal age underscore the need for updated practice guidance. J Community Genet 13, 427–433 (2022). https://doi.org/10.1007/s12687-022-00595-y
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DOI: https://doi.org/10.1007/s12687-022-00595-y