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ORIGINAL RESEARCH article
Front. Genet.
Sec. Human and Medical Genomics
Volume 16 - 2025 | doi: 10.3389/fgene.2025.1581249
Fetal Karyotyping in Adolescent Pregnancies: A Population-Based Cohort Study on Outcomes of Invasive Prenatal Testing
Provisionally accepted
Jakub Marcin Staniczek1,2,3*
Maisa Manasar-Dyrbuś1,2,3
Patrycja Sodowska4Krzysztof Sodowski1,3,4Agata Włoch5Bartosz Czuba5Wojciech Cnota5Monika Paul-Samojedny3Agnieszka Kania3Henryka Sodowska3Magda Rybak-Krzyszkowska6Adrianna Kondracka7Rafał Stojko1,2
Agnieszka Drosdzol-Cop1,2- 1Chair and Department of Gynecology, Obstetrics and Gynecological Oncology, Medical University of Silesia, Katowice, Poland
- 2Department of Gynecology, Obstetrics, Gynecological Oncology, Pediatric and Adolescent Gynecology, Bonifraters’ Medical Center, 40-211 Katowice, Poland, Katowice, Poland
- 3Genom (Godula Hope) Medical Center, Ruda Śląska, Poland
- 4Sodowscy Medical Center, Katowice, Silesian, Poland
- 5Department of Gynecology and Obstetrics, Medical University of Silesia, Ruda Śląska, Poland
- 6University Hospital in Krakow, Krakow, Lesser Poland, Poland
- 7Department of Obstetrics and Pathology of Pregnancy, Medical University of Lublin, Lublin, Lublin, Poland
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Background: Adolescent pregnancies present unique challenges in prenatal diagnostics, yet data on the prevalence and types of chromosomal abnormalities in this population remain limited.Objective: This study aimed to assess the prevalence and spectrum of chromosomal abnormalities and evaluate the effectiveness of invasive prenatal diagnostic procedures. Methods: A 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. Results: Abnormal 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).Adolescents show unique chromosomal abnormalities, underscoring the need for tailored prenatal counseling and diagnostics.
Keywords: Adolescent pregnancy, Karyotyping, Invasive procedures, Amniocentesis, CVS
Received: 21 Feb 2025; Accepted: 11 Apr 2025.
Copyright: © 2025 Staniczek, Manasar-Dyrbuś, Sodowska, Sodowski, Włoch, Czuba, Cnota, Paul-Samojedny, Kania, Sodowska, Rybak-Krzyszkowska, Kondracka, Stojko and Drosdzol-Cop. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Jakub Marcin Staniczek, Chair and Department of Gynecology, Obstetrics and Gynecological Oncology, Medical University of Silesia, Katowice, Poland
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.