Fetal karyotyping in adolescent pregnancies: a population-based cohort study on outcomes of invasive prenatal testing

BackgroundAdolescent pregnancies present unique challenges in prenatal diagnostics, yet data on the prevalence and types of chromosomal abnormalities in this population remain limited.ObjectiveThis study aimed to assess the prevalence and spectrum of chromosomal abnormalities and evaluate the effect...

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Main Authors: Jakub Staniczek, Maisa Manasar-Dyrbuś, Patrycja Sodowska, Krzysztof Sodowski, Agata Włoch, Bartosz Czuba, Wojciech Cnota, Monika Paul-Samojedny, Agnieszka Kania, Henryka Sodowska, Magda Rybak-Krzyszkowska, Adrianna Kondracka, Rafał Stojko, Agnieszka Drosdzol-Cop
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-04-01
Series:Frontiers in Genetics
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Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1581249/full
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author Jakub Staniczek
Jakub Staniczek
Jakub Staniczek
Maisa Manasar-Dyrbuś
Maisa Manasar-Dyrbuś
Maisa Manasar-Dyrbuś
Patrycja Sodowska
Krzysztof Sodowski
Krzysztof Sodowski
Agata Włoch
Agata Włoch
Agata Włoch
Bartosz Czuba
Wojciech Cnota
Monika Paul-Samojedny
Monika Paul-Samojedny
Agnieszka Kania
Henryka Sodowska
Henryka Sodowska
Magda Rybak-Krzyszkowska
Adrianna Kondracka
Rafał Stojko
Rafał Stojko
Agnieszka Drosdzol-Cop
Agnieszka Drosdzol-Cop
author_facet Jakub Staniczek
Jakub Staniczek
Jakub Staniczek
Maisa Manasar-Dyrbuś
Maisa Manasar-Dyrbuś
Maisa Manasar-Dyrbuś
Patrycja Sodowska
Krzysztof Sodowski
Krzysztof Sodowski
Agata Włoch
Agata Włoch
Agata Włoch
Bartosz Czuba
Wojciech Cnota
Monika Paul-Samojedny
Monika Paul-Samojedny
Agnieszka Kania
Henryka Sodowska
Henryka Sodowska
Magda Rybak-Krzyszkowska
Adrianna Kondracka
Rafał Stojko
Rafał Stojko
Agnieszka Drosdzol-Cop
Agnieszka Drosdzol-Cop
author_sort Jakub Staniczek
collection DOAJ
description BackgroundAdolescent pregnancies present unique challenges in prenatal diagnostics, yet data on the prevalence and types of chromosomal abnormalities in this population remain limited.ObjectiveThis study aimed to assess the prevalence and spectrum of chromosomal abnormalities and evaluate the effectiveness of invasive prenatal diagnostic procedures.MethodsA retrospective cohort study analyzed data from invasive prenatal diagnostic procedures (amniocentesis and transabdominal chorionic villus sampling) and fetal karyotyping in adolescent pregnancies, comparing them with data obtained from pregnancies in older women.ResultsAbnormal karyotype prevalence varied by age. Trisomies were least frequent in adolescents (5.9%) vs. women 20–34 (9.3%) and ≥35 years (12.1%). Turner syndrome was more common in adolescents (4.6%) than in women 20–34 (2.8%) or ≥35 years (0.1%). Adolescents had a higher risk of unspecified fetal sex (RR = 2.25, 95% CI: 1.16–4.35) and culture failure (RR = 4.32, 95% CI: 2.07–9.00). Ultrasound abnormalities were the main reason for invasive testing (86.3%, p < 0.001). More chorionic villus sampling procedures were needed per abnormal karyotype in adolescents (3.25) vs. women 20–34 (2.42) or ≥35 years (2.19), while fewer amniocenteses were required (6.68 vs. 7.37 and 8.44).ConclusionAdolescents show unique chromosomal abnormalities, underscoring the need for tailored prenatal counseling and diagnostics.
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spelling doaj-art-1e20ef05c16941a896dc930193b67c952025-08-20T02:24:38ZengFrontiers Media S.A.Frontiers in Genetics1664-80212025-04-011610.3389/fgene.2025.15812491581249Fetal karyotyping in adolescent pregnancies: a population-based cohort study on outcomes of invasive prenatal testingJakub Staniczek0Jakub Staniczek1Jakub Staniczek2Maisa Manasar-Dyrbuś3Maisa Manasar-Dyrbuś4Maisa Manasar-Dyrbuś5Patrycja Sodowska6Krzysztof Sodowski7Krzysztof Sodowski8Agata Włoch9Agata Włoch10Agata Włoch11Bartosz Czuba12Wojciech Cnota13Monika Paul-Samojedny14Monika Paul-Samojedny15Agnieszka Kania16Henryka Sodowska17Henryka Sodowska18Magda Rybak-Krzyszkowska19Adrianna Kondracka20Rafał Stojko21Rafał Stojko22Agnieszka Drosdzol-Cop23Agnieszka Drosdzol-Cop24Chair and Department of Gynecology, Obstetrics and Gynecological Oncology, Medical University of Silesia, Katowice, PolandDepartment of Gynecology, Obstetrics, Gynecological Oncology, Pediatric and Adolescent Gynecology, Bonifraters’ Medical Center, Katowice, PolandGenom (Godula Hope) Medical Center, Ruda Śląska, PolandChair and Department of Gynecology, Obstetrics and Gynecological Oncology, Medical University of Silesia, Katowice, PolandDepartment of Gynecology, Obstetrics, Gynecological Oncology, Pediatric and Adolescent Gynecology, Bonifraters’ Medical Center, Katowice, PolandGenom (Godula Hope) Medical Center, Ruda Śląska, PolandSodowscy Medical Center, Katowice, PolandGenom (Godula Hope) Medical Center, Ruda Śląska, PolandSodowscy Medical Center, Katowice, PolandGenom (Godula Hope) Medical Center, Ruda Śląska, PolandSodowscy Medical Center, Katowice, PolandChair and Department of Gynecology and Obstetrics, Medical University of Silesia, Ruda Śląska, PolandChair and Department of Gynecology and Obstetrics, Medical University of Silesia, Ruda Śląska, PolandChair and Department of Gynecology and Obstetrics, Medical University of Silesia, Ruda Śląska, PolandGenom (Godula Hope) Medical Center, Ruda Śląska, PolandDepartment of Medical Genetics, Medical University of Silesia, Sosnowiec, PolandGenom (Godula Hope) Medical Center, Ruda Śląska, PolandGenom (Godula Hope) Medical Center, Ruda Śląska, PolandSodowscy Medical Center, Katowice, PolandDepartment of Obstetrics and Perinatology, University Hospital, Krakow, PolandDepartment of Obstetrics and Pathology of Pregnancy, Medical University of Lublin, Lublin, PolandChair and Department of Gynecology, Obstetrics and Gynecological Oncology, Medical University of Silesia, Katowice, PolandDepartment of Gynecology, Obstetrics, Gynecological Oncology, Pediatric and Adolescent Gynecology, Bonifraters’ Medical Center, Katowice, PolandChair and Department of Gynecology, Obstetrics and Gynecological Oncology, Medical University of Silesia, Katowice, PolandDepartment of Gynecology, Obstetrics, Gynecological Oncology, Pediatric and Adolescent Gynecology, Bonifraters’ Medical Center, Katowice, PolandBackgroundAdolescent pregnancies present unique challenges in prenatal diagnostics, yet data on the prevalence and types of chromosomal abnormalities in this population remain limited.ObjectiveThis study aimed to assess the prevalence and spectrum of chromosomal abnormalities and evaluate the effectiveness of invasive prenatal diagnostic procedures.MethodsA retrospective cohort study analyzed data from invasive prenatal diagnostic procedures (amniocentesis and transabdominal chorionic villus sampling) and fetal karyotyping in adolescent pregnancies, comparing them with data obtained from pregnancies in older women.ResultsAbnormal karyotype prevalence varied by age. Trisomies were least frequent in adolescents (5.9%) vs. women 20–34 (9.3%) and ≥35 years (12.1%). Turner syndrome was more common in adolescents (4.6%) than in women 20–34 (2.8%) or ≥35 years (0.1%). Adolescents had a higher risk of unspecified fetal sex (RR = 2.25, 95% CI: 1.16–4.35) and culture failure (RR = 4.32, 95% CI: 2.07–9.00). Ultrasound abnormalities were the main reason for invasive testing (86.3%, p < 0.001). More chorionic villus sampling procedures were needed per abnormal karyotype in adolescents (3.25) vs. women 20–34 (2.42) or ≥35 years (2.19), while fewer amniocenteses were required (6.68 vs. 7.37 and 8.44).ConclusionAdolescents show unique chromosomal abnormalities, underscoring the need for tailored prenatal counseling and diagnostics.https://www.frontiersin.org/articles/10.3389/fgene.2025.1581249/fulladolescent pregnancykaryotypinginvasive proceduresamniocentesisCVS
spellingShingle Jakub Staniczek
Jakub Staniczek
Jakub Staniczek
Maisa Manasar-Dyrbuś
Maisa Manasar-Dyrbuś
Maisa Manasar-Dyrbuś
Patrycja Sodowska
Krzysztof Sodowski
Krzysztof Sodowski
Agata Włoch
Agata Włoch
Agata Włoch
Bartosz Czuba
Wojciech Cnota
Monika Paul-Samojedny
Monika Paul-Samojedny
Agnieszka Kania
Henryka Sodowska
Henryka Sodowska
Magda Rybak-Krzyszkowska
Adrianna Kondracka
Rafał Stojko
Rafał Stojko
Agnieszka Drosdzol-Cop
Agnieszka Drosdzol-Cop
Fetal karyotyping in adolescent pregnancies: a population-based cohort study on outcomes of invasive prenatal testing
Frontiers in Genetics
adolescent pregnancy
karyotyping
invasive procedures
amniocentesis
CVS
title Fetal karyotyping in adolescent pregnancies: a population-based cohort study on outcomes of invasive prenatal testing
title_full Fetal karyotyping in adolescent pregnancies: a population-based cohort study on outcomes of invasive prenatal testing
title_fullStr Fetal karyotyping in adolescent pregnancies: a population-based cohort study on outcomes of invasive prenatal testing
title_full_unstemmed Fetal karyotyping in adolescent pregnancies: a population-based cohort study on outcomes of invasive prenatal testing
title_short Fetal karyotyping in adolescent pregnancies: a population-based cohort study on outcomes of invasive prenatal testing
title_sort fetal karyotyping in adolescent pregnancies a population based cohort study on outcomes of invasive prenatal testing
topic adolescent pregnancy
karyotyping
invasive procedures
amniocentesis
CVS
url https://www.frontiersin.org/articles/10.3389/fgene.2025.1581249/full
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