From prenatal screening to passive diagnosis in adulthood: Phenotypic association analysis of 224 patients with Klinefelter syndrome.
10.3760/cma.j.cn511374-20250903-00566
- Author:
Huanhuan ZHANG
1
;
Yong WU
;
Yamei XIE
;
Qingsong LIU
Author Information
1. Department of Prenatal Diagnosis, the Affiliated Women's and Children's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610073, China. 35590551@qq.com.
- Publication Type:Journal Article
- MeSH:
Humans;
Klinefelter Syndrome/genetics*;
Female;
Adult;
Pregnancy;
Retrospective Studies;
Prenatal Diagnosis/methods*;
Male;
Phenotype;
Karyotyping;
Young Adult;
Adolescent;
Middle Aged
- From:
Chinese Journal of Medical Genetics
2026;43(3):188-196
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To investigate the detection patterns, clinical phenotypic characteristics, and differences in diagnostic timeliness of Klinefelter syndrome (KS) across prenatal and postnatal stages, with an aim to provide a basis for optimizing strategies for early screening, diagnosis, and intervention.
METHODS:A retrospective study was conducted to analyze data from two phases. The prenatal diagnosis group included 33,302 pregnant women who underwent amniocytic karyotyping due to advanced maternal age, abnormal ultrasound findings, or high-risk non-invasive prenatal testing (NIPT). The postnatal diagnosis group included 52,101 patients who underwent peripheral blood karyotyping due to primary infertility, abnormal external genitalia, or growth and developmental abnormalities. Additionally, medical histories of adult diagnosed patients were reviewed retrospectively to identify early occult symptoms. This study was approved by the Medical Ethics Committee of Chengdu Women's and Children's Central Hospital (Ethics No.: LCYJ-2025-030).
RESULTS:In the prenatal group, 96 cases of KS were detected (detection rate 0.29%). The primary indications for referral were NIPT indicating sex chromosome abnormalities (45.83%), advanced maternal age (16.66%), and ultrasound abnormalities (17.70%). In the postnatal group, 128 cases of KS were detected (detection rate 0.25%). Clinical presentations were primarily primary infertility/azoospermia (77.34%), and the patients were predominantly adults (84.40%). Retrospective analysis revealed that adult patients presented with specific physical signs that had been overlooked during childhood.
CONCLUSION:As KS lacks typical early clinical manifestations, diagnosis is often delayed until adulthood when reproductive needs arise, showing a pattern of "passive detection" and resulting in missed opportunities for optimal intervention. By conducting a comparative analysis of prenatal diagnostic data and postnatal retrospective data, a risk association model linking prenatal screening indications with childhood-specific signs was developed. This study has provided empirical evidence for establishing a multidisciplinary, full life-cycle management system of "screening ~ diagnosis ~ monitoring ~ intervention" helping to shift from "passive detection in adulthood" to "proactive management across the entire life course," and laid a foundation for improving early diagnosis rate and long-term quality of life for patients.
