Abstract

Down syndrome (DS; trisomy 21) is the most common viable chromosomal anomaly to be diagnosed during pregnancy. The cases of trisomy 21 raise medical, familial and social consequences due to their development impact and associated malformations. The objective of this article is to analyze fertility, maternal age and the cases diagnosed with Down syndrome at birth in Romania, for a better understanding of the need of an effective national preventive healthcare system. Materials and method. We used a retrospective descriptive tabulation of data reported by the Romanian National Institute of Statistics and Eurostat. Results. In 2018, the average age at birth was 28 years old in Romania, compared to 30.58 years old in the European Union. The total number of pregnancies declined with an average annual rate of 3%, but the number of birth in women above 30 years old registered a steady growth. A decrease of DS cases at one million children between 2010 and 2015 (annual averages of 5.3%) for Romania was associated with a decrease in birth for women under 30 years old. Discussion. The number of DS cases at birth has decreased in the last decades, raising the question if the increasing costs led to an improvement in the prenatal screening diagnosis. New and often expensive tests have become available and widely prescribed. Understanding the impact of a national screening policy for Down syndrome in Romania is useful for rationale population-wide testing strategies. Nevertheless, a national pregnancy and birth registry, including pregnancy outcome and child surveillance corroborated with regular audit control, may contribute to allocate funds based on real needs.

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