Abstract
PurposeTo evaluate the trends in prenatal diagnosis over 26 years in a tertiary referral hospital.MethodsA retrospective analysis of invasive prenatal procedures performed between 1991 and 2016. Maternal characteristics, indications for invasive diagnosis, and percentage of abnormal karyotypes were compared between periods according to guidelines implemented nationally and locally.ResultsA total of 14,302 invasive prenatal procedures were performed. The proportion of invasive procedures performed for advanced maternal age, abnormal karyotype in a previous pregnancy, and maternal anxiety decreased from 71.1%, 17.8%, 8.9% in 1991 to 23.9%, 1.3%, and 2.3% in 2016 (OR 0.6, 0.8, and 0.9 for each 5 years, respectively; p < 0.001), while the proportion of invasive procedures performed for abnormal ultrasound increased from 2.2% in 1991 to 51.6% in 2016 (OR 1.9 for each 5 years; p < 0.001). Abnormal karyotype was found in 9.7%. The proportion of abnormal karyotypes increased significantly from 0.0% in 1991 to 15.7% in 2016 (OR 1.35 for each 5-year period; p < 0.001). The odds of abnormal karyotype increased after the implementation of the Ordinance of the Minister of Health in 2003 (OR 1.6), the National Prenatal Screening Program in 2007 (OR 2.2), and the in-house genetic counseling with combined first trimester screening in 2015 (OR 3.1).ConclusionsSignificant changes in prenatal diagnosis led to a better selection of patients undergoing invasive prenatal procedures. The implementation of in-house genetic counseling was associated with an increased rate of the detection of abnormal karyotypes.
Highlights
Chromosomal nondisjunction or breakage during gametogenesis or cell division may lead to chromosomal aberrations
We present a large data on prenatal diagnosis in the last three decades in a single tertiary referral center in Poland
Unlike other authors [8,9,10,11, 17,18,19], we did not observe a decline in invasive procedures neither after the introduction of National Prenatal Screening Program (NPSP) with combined first trimester screening (cFTS) in 2007 or after the implementation of NIPT in 2013 [14], which suggests that the trends in our country do not reflect global changes in prenatal diagnosis
Summary
Chromosomal nondisjunction or breakage during gametogenesis or cell division may lead to chromosomal aberrations. J Assist Reprod Genet (2020) 37:1999–2006 sampling than previously reported [13], while advances in molecular genetic techniques enable a prenatal diagnosis of many syndromes that were previously beyond detection. All this put new light on invasive prenatal diagnosis. As studies examining changing trends in prenatal diagnosis are scarce and usually based on data from western countries, we decided to evaluate the changes that took place in our referral center over 26 years of prenatal diagnosis and its impact on the percentage of abnormal karyotypes detected in our unit. We retrospectively examined invasive procedures performed in our Ultrasound Department between January 1, 1991 and December 31, 2016.
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