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Genetic conditions in offspring that may be associated with advanced paternal age

Genetic conditions in offspring that may be associated with advanced paternal age
Type Specific condition Age
(relative to reference age)		 Relative risk
(CI, if available)		 Population risk
(or reference risk)		 Adjusted risk References
(first author's name only)
Autosomal dominant Achondroplasia >50 (25 to 29) 7.8 1/15,000 1/1923 Risch[1]
30 to 34 (<20) 3.5 1/4285 Tiemann-Boege[2]
35 to 39 (<20) 4 1/3750
40 to 44 (<20) 8 1/1875
45 to 49 (<20) 9 1/1666
50 to 54 (<20) 12 1/1250
Apert >50 (25 to 29) 9.5 1/50,000 1/5263 Risch[1]
Pfeiffer >50 (25 to 29) 6 1/100,000 1/16,666 Glaser[3]
Crouzon >50 (25 to 29) 8 1/50,000 1/6250
Progeria Unknown Effect seen "Exceedingly rare"
MEN2A Unknown Effect seen 1/30,000
MEN2B Unknown Effect seen 1/30,000
Neurofibromatosis I >50 (25 to 29) 3.7* 1/3000 to 1/4000 1/810 to 1/1080 Risch[1]
>40 (<30) 2.9 1/1034 to 1/1380 Bunin[4]
Osteogenesis imperfecta >35 (<25) 2.5 1/10,000 1/4000 Carothers[5]
>35 (<35) 1.37 (0.73 to 6.89) 1/7300 Orioli[6]
Thanatophoric dysplasia >35 (<35) 3.18 (1.48 to 6.89) 1/20,000 to 1/50,000 1/6290 to 1/15,723 Orioli[6]
Retinoblastoma >45 3* (0.21 to 41.7) 1/15,000 to 1/20,000 1/5000 to 1/6667 Dockerty, Yip[7,8]
>35 (<35) 1.34 (1.04 to 1.74) 1/11,200 to 1/14,925 Moll[9]
>50 (32.5) 5 1/3000 to 1/4000 DerKinderen[10]
Chromosomal Down syndrome 40 to 44 (20 to 29) 1.37 (0.48 to 3.86) 1/1200 (maternal age 20 to 29) 1/876 Zhu[11]
45 to 49 (20 to 29) 2.68 (0.76 to 9.51) 1/448
>49 (20 to 29) 4.5 (1.0 to 20.3) 1/267
40 to 44 (25 to 29) 1.45 (1.26 to 1.68) Use maternal age as baseline for counseling purposes Yang[12]
45 to 49 (25 to 29) 1.28 (1.04 to 1.57)
>49 (25 to 29) 1.39 (1.04 to 1.83)
None given "May be increased" Kuhnert[13]
None given "Paternal age effect in association with maternal age (>35) effect" Fisch[14]
Klinefelter syndrome >50 (20s) 1.6Δ (0.69 to 3.0) 1/500 men 1/312 men Lowe[15]
Congenital anomalies VSD >40 (<40) 1.69* 1/200 1/118 Olshan[16]
ASD >35 1.95* 1/400 1/205 Lian[17]
Tracheoesophageal fistula >50 (25 to 29) 2.55 (1.28 to 4.6) 1/3600 1/1412 Yang[12]
Other complex disorders Childhood leukemia >35 1.5 1/25,000 1/16,667 Murray[18]
>40 (<25) 1.14 (0.85 to 1.53) 1/21,930 Yip[8]
Childhood CNS tumor 30 to 34 (<25) 1.34 (1.04 to 1.72) 1/36,000 1/26,866 Yip[8]
35 to 39 (<25) 1.4 (1.04 to 1.86) 1/25,714
>40 (<25) 1.69 (1.21 to 2.35) 1/21,302
Childhood type 1 diabetes >34 (<25) 1.52 (1.1 to 2.09) 1/415 1/273 Cardwell[19]
Epilepsy 35 to 39 1.18 (1.02 to 1.26) 1/100 1/85 Vestergaard[20]
40 to 45 1.3 (1.08 to 1.55) 1/770
Schizophrenia >50 (20 to 24) 4.62 (2.28 to 9.36) 1/100 1/22 Rasmussen[21]
35 to 44 (15 to 24) 1.6 (1.0 to 2.6) 1/62.5 Zammit[22]
45 to 54 (15 to 24) 1.6 (0.8 to 3.1) 1/62.5
>54 (15 to 24) 3.8 (1.3 to 11.8) 1/26
>49 (<25) 3 1/33 Malaspina[23]
>32 (<28) 3 (1.49 to 6.04) 1/33 Tsuchiya[24]
Autism >40 (<30) 5.75 (2.65 to 12.46) 1/1000 1/174 Reichenberg[25]
Unknown Effect seen Cantor[26]
Autism spectrum disorders 35 to 39 (25 to 29) 1.38 (1.04 to 1.84) 1/200 1/145 Croen[27]
>39 (25 to 29) 1.52 (1.1 to 2.1) 1/131
Breast cancer >40 (<30) 1.6 (1.04 to 2.32) 1/8.5 1/5.3 Choi[28]
Prostate cancer >38 (<27) 1.7 (1.0 to 2.8) 1/5.9 1/3.5 Zhang[29]
Multiple sclerosis 51 to 55 (21 to 25) 2.0 (1.35 to 2.96) Montgomery[30]
Other Spontaneous miscarriages >35 (<35) 1.26 (1.0 to 1.6) 1/7 1/5.3 Slama[31]
>39 (25 to 29) 1.6 (1.2 to 2.0) 1/4 Kleinhaus[32]
Relative infertility >39 (<39) 2.3 (1.67 to 3.17) 1/14 couples 1/6.2 De la Rochebrochard[33]
Low birth weight >34 (20 to 34) 1.7 (1.3 to 2.2) 1/40 1/23 Reichman[34]
Preeclampsia 35 to 44 (25 to 34) 1.24 (1.05 to 1.46) 1/62 1/50 Harlap[35]
>44 (25 to 34) 1.8 (1.04 to 1.51) 1/62 1/34  
Total risk For 86 examined congenital anomalies >40 (<20) 1.2 1/50 1/42 Lian[17]
>50 (<20) 1.3 1/38
This table is meant to show the findings of various studies examining the effect of paternal age on the condition in question. It is not meant to be a comprehensive guide to counseling but to merely indicate conditions that have been studied and the results obtained from those studies.
MEN: multiple endocrine neoplasia; VSD: ventricular septal defect; ASD: autism spectrum disorder; CNS: central nervous system.
* Increased risk not shown by other studies.
¶ Suggestion for this adjustment made by the author of this document. There are no data regarding use of paternal age for counseling for serum screening results.
Δ Based on frequency of XY sperm.
References:
  1. Risch N, Reigh EW, Wishnick MW, McCarthy JG. Spontaneous mutation and parental age in humans. Am J Hum Genet 1987; 41:218.
  2. Tiemann-Boege I, Navidi W, Grewal R, et al. The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect. Proc Natl Acad Sci U S A 2002; 99:14952.
  3. Glaser RL, Jabs EW. Dear old dad. Sci Aging Knowledge Environ 2004; 21:2004:re1.
  4. Bunin GR, Needle M, Riccardi VM. Paternal age and sporadic neurofibromatosis 1: A case-control study and consideration of the methodologic issues. Genet Epidemiol 1997; 14:507.
  5. Carothers AD, McAllion SJ, Paterson CR. Risk of dominant mutation in older fathers: evidence from osteogenesis imperfecta. J Med Genet 1986; 23:227.
  6. Orioli IM, Castilla EE, Scarano G, Mastroiacovo P. Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta. Am J Med Genet 1995; 59:209.
  7. Dockerty JD, Draper G, Vincent T, et al. Case-control study of parental age, parity and socioeconomic level in relation to childhood cancers. Int J Epidemiol 2001; 30:1428.
  8. Yip BH, Pawitan Y, Czene K. Parental age and risk of childhood cancers: A population-based cohort study from Sweden. Int J Epidemiol 2006; 35:1495.
  9. Moll AC, Imhof SM, Kuik DJ, et al. High parental age is associated with sporadic hereditary retinoblastoma: the Dutch retinoblastoma register 1862–1994. Hum Genet 1996; 98:109.
  10. DerKinderen DJ, Koten JW, Tan KE, et al. Parental age in sporadic hereditary retinoblastoma. Am J Ophthalmol 1990; 110:605.
  11. Zhu JL, Madsen KM, Vestergaard M, et al. Paternal age and congenital malformations. Hum Reprod 2005; 20:3173.
  12. Yang Q, Wen SW, Leader A, et al. Paternal age and birth defects: How strong is the association? Hum Reprod 2007; 22:696.
  13. Kuhnert B, Nieschlag E. Reproductive functions of the ageing male. Hum Reprod Update 2004; 10:327.
  14. Fisch H, Hyun G, Golden R, et al. The influence of paternal age on Down syndrome. J Urol 2003; 169:2275.
  15. Lowe X, Eskenazi B, Nelson DO, et al. Frequency of XY sperm increases with age in fathers of boys with Klinefelter syndrome. Am J Hum Genet 2001; 69:1046.
  16. Olshan AF, Schnitzer PG, Baird PA. Paternal age and the risk of congenital heart defects. Teratol 1994; 50:80.
  17. Lian ZH, Zack MM, Erickson JD. Paternal age and the occurrence of birth defects. Am J Hum Genet 1986; 39:648.
  18. Murray L, McCarron P, Bailie K, et al. Association of early life factors and acute lymphoblastic leukaemia in childhood: Historical cohort study. Br J Cancer 2002; 86:356.
  19. Cardwell CR, Carson DJ, Patterson CC. Parental age at delivery, birth order, birth weight and gestational age are associated with the risk of childhood Type 1 diabetes: A UK regional retrospective cohort study. Diabet Med 2005; 22:200.
  20. Vestergaard M, Mork A, Madsen KM, Olsen J. Paternal age and epilepsy in the offspring. Eur J Epidemiol 2005; 20:1003.
  21. Rasmussen F. Paternal age, size at birth, and size in young adulthood — Risk factors for schizophrenia. Eur J Endocrin 2006; 155:S65.
  22. Zammit S, Allebeck P, Dalman C, et al. Paternal age and risk for schizophrenia. Br J Psychiatr 2003; 183:405.
  23. Malaspina D, Harlap S, Fennig S, et al. Advancing paternal age and the risk of schizophrenia. Arch Gen Psychiatry 2001; 58:361.
  24. Tsuchiya KJ, Takagai S, Kawai M, et al. Advanced paternal age associated with an elevated risk for schizophrenia in offspring in a Japanese population. Schizophr Res 2005; 76:337.
  25. Reichenberg A, Gross R, Weiser M, et al. Advancing paternal age and autism. Arch Gen Psychiatry 2006; 63:1026.
  26. Cantor RM, Yoon JL, Furr J, Lajonchere CM. Paternal age and autism are associated in a family-based sample. Mol Psychiatr 2007; 12:419.
  27. Croen LA, Najjar DV, Fireman B, Grether JK. Maternal and paternal age and risk of autism spectrum disorders. Arch Pediatr Adolesc Med 2007; 161:334.
  28. Choi JY, Lee KM, Park SK, et al. Association of paternal age at birth and the risk of breast cancer in offspring: a case control study. BMC Cancer 2005; 5:143.
  29. Zhang Y, Kreger BE, Dorgan JF, et al. Parental age at child's birth and son's risk of prostate cancer. The Framingham study. Am J Epidemiol 1999; 150:1208.
  30. Montgomery SM, Lambe M, Olsson T, Ekbom A. Parental age, family size, and risk of multiple sclerosis. Epidemiology 2004; 15:717.
  31. Slama R, Bouyer J, Windham G, et al. Influence of paternal age on the risk of spontaneous abortion. Am J Epidemiol 2005; 161:816.
  32. Kleinhaus K, Perrin M, Friedlander Y, et al. Paternal age and spontaneous abortion. Obstet Gynecol 2006; 108:369.
  33. De La Rochebrochard E, Thonneau P. Paternal age ≥40 years: An important risk factor for infertility. Am J Obstet Gynecol 2003; 189:901.
  34. Reichman NE, Teitler JO. Paternal age as a risk factor for low birthweight. Am J Public Health 2006; 96:862.
  35. Harlap S, Paltiel O, Deutsch L, et al. Paternal age and preeclampsia. Epidemiology 2002; 13:660.
Reprinted by permission from Macmillan Publishers Ltd: Genetics in Medicine. Toriello HV, Meck JM. Statement on guidance for genetic counseling in advanced paternal age. Genet Med 2008; 10:457. Copyright © 2008. www.nature.com/gim.
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