Pregnancy outcome following prenatal diagnosis of chromosomal abnormalities



Since the 1990s, there has been an increase in the number of pregnancies affected by chromosomal abnormalities, including Down syndrome, due to women giving birth at later ages. At the same time, prenatal screening and diagnosis techniques for chromosomal abnormalities have improved and have become more widely available. Therefore, more women whose pregnancies are affected by chromosomal abnormalities receive a diagnosis before the baby is born and have a choice to continue or to terminate the pregnancy. 

Aims and objectives

This project aims to examine trends and factors influencing pregnancy termination rates following the diagnosis of chromosomal abnormalities in Scotland. We will examine 1) if there has been any change in the proportion of pregnancies that are terminated after a diagnosis of chromosomal abnormalities from 2000 to 2011; 2) if pregnancies with certain diagnoses are more or less likely to be terminated; and 3) if there has been any change in the proportion of pregnancies referred for diagnostic tests that are actually not affected by chromosomal abnormalities.


In Scotland, all pregnant women are offered prenatal screening to assess their risk for the pregnancy to be affected by chromosomal abnormalities. Women who are considered to be at high risk are referred to further diagnostic tests, namely chorionic villus sampling or amniocentesis. We will link the diagnoses from all prenatal diagnostic tests carried out from 2000 to 2011 in Scotland to Scottish Morbidity Records to find out whether the pregnancies were terminated or not. We also will include information on the mother’s age, marital status, number of previous pregnancies and deprivation/affluence.

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