Amina Kurtovic-Kozaric1, Lejla Mehinovic2, Radmila Malesevic3, Semir Mesanovic4, Tijana Jaros3, Meliha Stomornjak-Vukadin2, Mirela Mackic-Djurovic5, Slavica Ibrulj5, Ilvana Kurtovic-Basic2, Mirza Kozaric6. 1. Laboratory of Human Genetics, Department of Pathology, Cytology and Human Genetics, University Clinical Center Sarajevo, Sarajevo, Bosnia and Herzegovina. Electronic address: amina.kozaric@kcus.ba. 2. Laboratory of Human Genetics, Department of Pathology, Cytology and Human Genetics, University Clinical Center Sarajevo, Sarajevo, Bosnia and Herzegovina. 3. Department of Medical Genetics, Institute of Laboratory Diagnostics, University Clinical Center of Republic of Srpska, Banjaluka, Bosnia and Herzegovina. 4. Laboratory of Cytogenetics, Institute of Pathology, University Clinical Center Tuzla, Tuzla, Bosnia and Herzegovina. 5. Center for Genetics, Medical Faculty, University of Sarajevo, Sarajevo, Bosnia and Herzegovina. 6. Clinic of Obstetrics and Gynecology, University Clinical Center Sarajevo, Sarajevo, Bosnia and Herzegovina.
Abstract
OBJECTIVE: This study examines trends in total and live birth prevalence of trisomy 21 (T21) with regard to increasing maternal age and the introduction of prenatal diagnosis in Bosnia and Herzegovina. METHOD: The prenatal detection was introduced in January 2008 in 3 hospitals and assessed until December 31, 2015. In this study, 99 fetuses and 330 babies were diagnosed with T21 in the studied period. RESULTS: On average, each year 33 T21 individuals were born and 13 T21 fetuses were diagnosed prenatally. The calculated incidence for the live born T21 individuals in Bosnia is 1:999. The live-birth prevalence of T21 was 9.6 per 10,000 births and the total prevalence of T21 was 19.1. The total T21 prevalence increases exponentially with the advanced maternal age. Prenatal T21 prevalence is 1.29 per 10,000 births for mothers <35, but increases exponentially with increasing age (32 for >40 years). The most common indications for invasive prenatal testing were ultrasound screening combined with biochemical serum analysis followed by the advanced maternal age. CONCLUSION: The prevalence of liveborn Down syndrome children remained constant. Despite the fact that increasing maternal age in the last decade contributed to the rise in the total T21 prevalence, the effect of the introduction of prenatal diagnosis on the live-birth T21 prevalence of T21 was minimal, leading to the conclusion that the prenatal screening has to be improved in developing countries.
OBJECTIVE: This study examines trends in total and live birth prevalence of trisomy 21 (T21) with regard to increasing maternal age and the introduction of prenatal diagnosis in Bosnia and Herzegovina. METHOD: The prenatal detection was introduced in January 2008 in 3 hospitals and assessed until December 31, 2015. In this study, 99 fetuses and 330 babies were diagnosed with T21 in the studied period. RESULTS: On average, each year 33 T21 individuals were born and 13 T21 fetuses were diagnosed prenatally. The calculated incidence for the live born T21 individuals in Bosnia is 1:999. The live-birth prevalence of T21 was 9.6 per 10,000 births and the total prevalence of T21 was 19.1. The total T21 prevalence increases exponentially with the advanced maternal age. Prenatal T21 prevalence is 1.29 per 10,000 births for mothers <35, but increases exponentially with increasing age (32 for >40 years). The most common indications for invasive prenatal testing were ultrasound screening combined with biochemical serum analysis followed by the advanced maternal age. CONCLUSION: The prevalence of liveborn Down syndrome children remained constant. Despite the fact that increasing maternal age in the last decade contributed to the rise in the total T21 prevalence, the effect of the introduction of prenatal diagnosis on the live-birth T21 prevalence of T21 was minimal, leading to the conclusion that the prenatal screening has to be improved in developing countries.
Authors: Dafne Herrero; Christa Einspieler; Carolina Y Panvequio Aizawa; Akmer Mutlu; Hong Yang; Alice Nogolová; Jasmin Pansy; Karin Nielsen-Saines; Peter B Marschik Journal: Res Dev Disabil Date: 2017-06-03
Authors: Maurike de Groot-van der Mooren; Gert de Graaf; Michel E Weijerman; Mariette J V Hoffer; Jeroen Knijnenburg; Anne-Marie M F van der Kevie-Kersemaekers; Angelique J A Kooper; Els Voorhoeve; Birgit Sikkema-Raddatz; Laura J C M van Zutven; Malgorzata Ilona Srebniak; Karin Huijsdens-van Amsterdam; John J M Engelen; Dominique Smeets; Anton H van Kaam; Martina C Cornel Journal: Prenat Diagn Date: 2021-07-01 Impact factor: 3.050