Abstract
To provide maternal age-specific rates for trisomy 21 (T21) and common autosomal trisomies (including trisomies 21, 18 and 13) in fetuses. We retrospectively reviewed prenatal cytogenetic results obtained between 1990 and 2009 in Songklanagarind Hospital, a university teaching hospital, in southern Thailand. Maternal age-specific rates of T21 and common autosomal trisomies were established using different regression models, from which only the fittest models were used for the study. A total of 17,819 records were included in the statistical analysis. The fittest models for predicting rates of T21 and common autosomal trisomies were regression models with 2 parameters (Age and Age2). The rate of T21 ranged between 2.67 per 1,000 fetuses at the age of 34 and 71.06 per 1,000 at the age of 48. The rate of common autosomal trisomies ranged between 4.54 per 1,000 and 99.65 per 1,000 at the same ages. This report provides the first maternal age-specific rates for T21 and common autosomal trisomies fetuses in a Southeast Asian population and the largest case number of fetuses have ever been reported in Asians.
Highlights
Many maternal age-specific rates for trisomy 21 (T21) in both fetuses and live births have been reported since the 1980s. These T21 rates in live births based on maternal age at date of delivery are widely applied in risk assessment and deciding whether to recommend prenatal screening, even though the rates used in counseling may not reflect the actual rates, as the live birth rates could be underestimating the risk as these rates are lower than the rates in fetuses at the amniocentesis date [1] and do not include the rates of all common autosomal trisomies
As the rates of T21 and common autosomal trisomies in fetuses have never been reported in any Southeast Asian population, this study was conducted to provide a maternal age-specific rate for T21 and common autosomal trisomies in southern Thailand for some baseline data for use in counseling practice
As the numbers of cases with trisomy 18 (T18) and trisomy 13 (T13) were small, we summarized the total number of trisomy cases and analyzed the maternal agespecific rate of common autosomal trisomies, instead of individual rates for T18 and T13
Summary
Many maternal age-specific rates for trisomy 21 (T21) in both fetuses and live births have been reported since the 1980s. These T21 rates in live births based on maternal age at date of delivery are widely applied in risk assessment and deciding whether to recommend prenatal screening, even though the rates used in counseling may not reflect the actual rates, as the live birth rates could be underestimating the risk as these rates are lower than the rates in fetuses at the amniocentesis date [1] and do not include the rates of all common autosomal trisomies (i.e. trisomies 21, 13 and 18). We retrospectively analyzed cytogenetic findings from amniotic fluid cultures between 1990 and 2009 in a single diagnostic center, to calculate a referential maternal age-specific rate for T21 and common autosomal trisomies. We compared our findings with previous reports in both fetuses and live births
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