青少年妊娠中的胎儿核型分析：一项基于人群的侵入性产前检测结局队列研究。

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

作者信息

Staniczek Jakub, Manasar-Dyrbuś Maisa, Sodowska Patrycja, Sodowski Krzysztof, Włoch Agata, Czuba Bartosz, Cnota Wojciech, Paul-Samojedny Monika, Kania Agnieszka, Sodowska Henryka, Rybak-Krzyszkowska Magda, Kondracka Adrianna, Stojko Rafał, Drosdzol-Cop Agnieszka

机构信息

Chair and Department of Gynecology, Obstetrics and Gynecological Oncology, Medical University of Silesia, Katowice, Poland.

Department of Gynecology, Obstetrics, Gynecological Oncology, Pediatric and Adolescent Gynecology, Bonifraters' Medical Center, Katowice, Poland.

出版信息

Front Genet. 2025 Apr 25;16:1581249. doi: 10.3389/fgene.2025.1581249. eCollection 2025.

DOI:10.3389/fgene.2025.1581249

PMID:40352789

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12061947/

Abstract

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).

CONCLUSION

Adolescents show unique chromosomal abnormalities, underscoring the need for tailored prenatal counseling and diagnostics.

摘要

背景

青少年怀孕在产前诊断中存在独特挑战，但该人群中染色体异常的患病率和类型的数据仍然有限。

目的

本研究旨在评估染色体异常的患病率和谱系，并评估侵入性产前诊断程序的有效性。

方法

一项回顾性队列研究分析了青少年怀孕中侵入性产前诊断程序（羊膜穿刺术和经腹绒毛取样）和胎儿核型分析的数据，并将其与老年女性怀孕获得的数据进行比较。

结果

核型异常患病率因年龄而异。青少年中三体综合征的发生率最低（5.9%），而20 - 34岁女性为（9.3%），≥35岁女性为（12.1%）。特纳综合征在青少年中更常见（4.6%），而在20 - 34岁女性中为（2.8%），≥35岁女性中为（0.1%）。青少年出现未明确胎儿性别的风险更高（RR = 2.25，95% CI：1.16 - 4.35）以及培养失败的风险更高（RR = 4.32，95% CI：2.07 - 9.00）。超声异常是进行侵入性检测的主要原因（86.3%，p < 0.001）。与20 - 34岁女性（2.42）或≥35岁女性（2.19）相比，青少年每例异常核型需要更多的绒毛取样程序（3.25），而所需的羊膜穿刺术较少（分别为6.68、7.37和8.44）。