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Down syndrome and parity.

M Clementi1, S Bianca, F Benedicenti

  • 1Servizio di Genetica Clinica ed Epidemiologica, Dipartimento di Pediatria, Università di Padova, Italy. clementi@child.pedi.unipd.it

Community Genetics
|June 5, 2004
PubMed
Summary

Mothers aged 35 and older who have had multiple births face a higher risk of having a child with Down syndrome (DS). This study analyzed DS births in Italy, offering insights into the condition

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Area of Science:

  • Human Genetics
  • Reproductive Epidemiology
  • Congenital Malformations

Background:

  • Maternal age is a known risk factor for Down syndrome (DS).
  • The influence of parity (number of previous births) on DS risk requires further investigation.
  • Understanding parity's role can refine risk assessment for DS.

Purpose of the Study:

  • To investigate the independent effect of parity on the risk of Down syndrome (DS).
  • To analyze parity's influence across different maternal age groups.
  • To assess potential differences in parity effects between distinct geographical regions in Italy.

Main Methods:

  • Utilized data from Congenital Malformation Registries in Northeast Italy (NEI) and Sicily (ISMAC) from 1981-1996.
  • Included all recorded Down syndrome births confirmed by chromosomal analysis and pregnancy terminations (TOPs) in the NEI registry.
  • Defined age classes and three parity classes (1, 2-4, >4) to analyze effects independently of maternal age.

Main Results:

  • A significantly increased risk of having a DS child was observed in multiparous women aged 35 and older in both study samples.
  • In the ISMAC sample, primiparous women showed a significantly reduced risk of DS across all maternal ages.
  • Inclusion of TOP data in the NEI sample did not alter the observed association between parity and DS risk.

Conclusions:

  • Confirms a higher risk of Down syndrome in women with parity greater than 4, particularly those aged 35 and above.
  • The practical impact of this finding is limited due to widespread prenatal diagnosis in older mothers.
  • The observed association warrants further research into the underlying mechanisms of chromosomal nondisjunction.

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