Have maternal or paternal ages any impact on the prenatal incidence of genomic copy number variants associated with fetal structural anomalies?

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Original Publication: San Francisco, CA : Public Library of Science

DNA Copy Number Variations* ; Maternal Age* ; Paternal Age*; Congenital Abnormalities/*epidemiology ; Ultrasonography, Prenatal/*statistics & numerical data; Adult ; Age Factors ; Case-Control Studies ; Congenital Abnormalities/diagnosis ; Congenital Abnormalities/genetics ; Female ; Humans ; Incidence ; Male ; Pregnancy ; Risk Factors

The objective of this study was to determine whether maternal or paternal ages have any impact on the prenatal incidence of genomic copy number variants (CNV) in fetuses with structural anomalies. We conducted a non-paired case-control study (1:2 ratio) among pregnancies undergoing chromosomal microarray analysis (CMA) because of fetal ultrasound anomalies, from December 2012 to May 2020. Pregnancies with any pathogenic copy number variant (CNV), either microdeletion or microduplication, were defined as cases. Controls were selected as the next two pregnancies with the same indication for CMA but with a normal result. Logistic regression was used, adjusting by use of assisted reproductive technology (ART) and parental smoking. Stratified analysis was performed according to CNV type (de novo/inherited and recurrent/non-recurrent). The study included 189 pregnancies: 63 cases and 126 controls. Mean maternal age in cases was 33.1 (SD 4.6) years and 33.9 (SD 6.0) years in controls. Mean paternal mean age was 34.5 (SD 4.8) years in cases and 35.8 (SD 5.8) years in controls. No significant differences in maternal or paternal age were observed, neither in stratified analysis according to the CNV type. Moreover, the proportion of cases were not significantly different between non-advanced and advanced ages, either considering paternal or maternal ages. The presence of pathogenic CNV at CMA in fetuses with structural anomalies was not found to be associated with advanced paternal or maternal age.
Competing Interests: The authors have declared that no competing interests exist.

PLoS One. 2016 Oct 10;11(10):e0164212. (PMID: 27723766)
Andrologia. 2005 Aug;37(4):119-24. (PMID: 16164428)
Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):14952-7. (PMID: 12397172)
BMJ. 2004 Nov 6;329(7474):1070. (PMID: 15501901)
Eur J Med Genet. 2020 Apr;63(4):103829. (PMID: 31883480)
Ultrasound Obstet Gynecol. 2018 Nov;52(5):563-568. (PMID: 29484739)
Eur J Hum Genet. 2015 Apr;23(4):466-72. (PMID: 25005732)
Eur J Hum Genet. 2012 Feb;20(2):155-60. (PMID: 21952720)
Hum Genet. 2013 Apr;132(4):443-50. (PMID: 23315237)
J Med Genet. 2011 Nov;48(11):776-8. (PMID: 21969336)
Nat Rev Genet. 2001 Apr;2(4):280-91. (PMID: 11283700)
Ultrasound Obstet Gynecol. 2019 May;53(5):590-597. (PMID: 30549343)
Am J Public Health. 2006 May;96(5):862-6. (PMID: 16571696)
Int J Epidemiol. 2006 Dec;35(6):1495-503. (PMID: 17008361)
Hum Reprod. 2002 Jun;17(6):1649-56. (PMID: 12042293)
Hum Reprod. 2005 Nov;20(11):3173-7. (PMID: 16006461)
Ann Epidemiol. 2004 Sep;14(8):566-70. (PMID: 15350956)
Eur J Hum Genet. 2006 Jul;14(7):831-7. (PMID: 16617304)
Am J Hum Genet. 2005 Jan;76(1):91-9. (PMID: 15551222)
Am J Hum Genet. 2010 May 14;86(5):749-64. (PMID: 20466091)
JAMA Psychiatry. 2013 May;70(5):516-21. (PMID: 23553111)
Fertil Steril. 1999 Jul;72(1):90-6. (PMID: 10428154)
Fertil Steril. 2018 Feb;109(2):201-212. (PMID: 29447663)
Am J Med Genet. 1980;5(2):145-55. (PMID: 6446855)
Fetal Diagn Ther. 2018;44(1):1-9. (PMID: 28889126)
Clin Genet. 2020 Oct;98(4):379-383. (PMID: 32632923)
Biomed Rep. 2020 Mar;12(3):83-88. (PMID: 32042416)
Ultrasound Obstet Gynecol. 2015 Dec;46(6):650-8. (PMID: 25900824)
Am J Mens Health. 2012 Sep;6(5):427-35. (PMID: 22564913)
BMJ. 2018 Oct 31;363:k4372. (PMID: 30381468)

Date Created: 20210709 Date Completed: 20211118 Latest Revision: 20211118

20240513

PMC8270131

10.1371/journal.pone.0253866

34242293