Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2023 Nov 15;115(19):1866-1875.
doi: 10.1002/bdr2.2252. Epub 2023 Sep 20.

Paternal age and risk for selected birth defects in a large South American sample

Juan A Gili  1   2   3 , Monica Rittler  1   2   4 , Silvina Heisecke  5 , Hebe Campaña  1   2   6 , Lucas Giménez  1   2   7 , María Rita Santos  1   2   6   8 , Julia Ratowiecki  1   2 , Viviana Cosentino  1   2   9 , Jorge López Camelo  1   2   7 , Fernando A Poletta  1   2   7
Affiliations

Paternal age and risk for selected birth defects in a large South American sample

Juan A Gili et al. Birth Defects Res. .

Abstract

Background: The relationship between maternal age (MA) and birth defects (BD) has been extensively studied while much less research, mostly with discordant results, has focused on the risk of paternal age (PA) for BD. Furthermore, no consensus has been reached on the best way to control the association of PA with MA.

Objectives: The aim of the study was to evaluate the risk of PA increase, at 1-year intervals, for selected BD, especially controlling for the confounding effect of MA.

Methods: The sample comprised of 27,944 liveborns presenting 1 of 18 selected isolated BD. Conditional logistic regressions were applied to evaluate the risk of advanced PA and its yearly increase, adjusting by MA and other variables.

Results: Of the 18 analyzed BD, only the risk for preaxial polydactyly (PreP) showed a significant association with increasing PA, while advanced MA was of low risk. For esophageal and anal atresia, associations with both PA and MA increases were observed.

Conclusions: Results support the hypothesis of advanced PA as a risk factor for PreP and helps clarify the so far unexplained nonrandom association between this defect and Down syndrome.

Keywords: anal atresia; birth defect; esophageal atresia; maternal age; paternal age; preaxial polydactyly.

PubMed Disclaimer

References

REFERENCES

    1. Al-Qattan, M. M., Shamseldin, H. E., Salih, M. A., & Alkuraya, F. S. (2017). GLI3-related polydactyly: A review. Clinical Genetics, 92(5), 457-466. https://doi.org/10.1111/cge.12952
    1. Álvarez, L. F. G., Tenorio-Castaño, J., Poletta, F. A., Santos-Simarro, F., Arias, P., Gallego, N., Orioli, I. M., Mundlos, S., Castilla, E. E., Martínez-Glez, V., Martínez-Frías, M. L., Ruiz-Pérez, V. L., Nevado, J., & Lapunzina, P. (2023). A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies. American Journal of Medical Genetics. Part A, 191(1), 100-107. https://doi.org/10.1002/ajmg.a.62994
    1. Archer, N. P., Langlois, P. H., Suarez, L., Brender, J., & Shanmugam, R. (2007). Association of paternal age with prevalence of selected birth defects. Birth Defects Research. Part A, Clinical and Molecular Teratology, 79(1), 27-34. https://doi.org/10.1002/bdra.20316
    1. Barisic, I., Boban, L., Greenlees, R., Garne, E., Wellesley, D., Calzolari, E., Addor, M. C., Arriola, L., Bergman, J. E., Braz, P., Budd, J. L., Gatt, M., Haeusler, M., Khoshnood, B., Klungsoyr, K., McDonnell, B., Nelen, V., Pierini, A., Queisser-Wahrendorf, A., … Dolk, H. (2014). Holt Oram syndrome: A registry-based study in Europe. Orphanet Journal of Rare Diseases, 25(9), 156. https://doi.org/10.1186/s13023-014-0156-y
    1. Biesecker, L. G. (2011). Polydactyly: How many disorders and how many genes? 2010 update. Developmental Dynamics, 240(5), 931-942. https://doi.org/10.1002/dvdy.22609

Publication types

Supplementary concepts

LinkOut - more resources