Prenatal genetic counseling referrals for advanced maternal age: still room for improvement


  • Funding sources: This study was supported by grants from Italian Ministerial Research (Ricerca Finalizzata ex art. 12 e 12 bis del D.Lgs 502/92. Progetto N 3 Sviluppo linee guida per offrire test genetici nelle gravidanze a rischio: implementazione di processi di valutazione dei test genetici, esercizio 2007).

  • Conflicts of interest: None declared



The objective of this study is to evaluate genetic risks already present before pregnancy in a cohort of pregnant women referred for prenatal genetic counseling exclusively for advanced maternal age (AMA).


We retrospectively reviewed the records of 1353 women referred over 1 year (2010) for pre-test genetic counseling with the only indication of AMA at three Italian Clinical Genetic Services.


Of the 1353 women fulfilling the inclusion criteria of the study, 87 (6.4%) had cumulatively 94 genetic risk factors not previously identified (one risk factor in 80 patients and two risk factors in seven). Twenty-six risk factors (27.7%) concerned heterogeneous or multifactorial conditions and 68 (72.3%) Mendelian or chromosomal disorders and consanguinity.

In nine out of these 87 women, the estimated risk for the offspring of a genetic disease or a significant structural anomaly was >5%. Additional testing according to the identified risks was performed in 36 of these 87 women/families.


The proportion of cases with additional risk factors is smaller than reported in previous studies, but it remains substantial and confirms the need for strategies to increase awareness of the public and health professionals responsible for the care of women in childbearing age. © 2013 John Wiley & Sons, Ltd.