Andonotopo Wiku, Bachnas Muhammad Adrianes, Pribadi Adhi, Alamsyah Azis Muhammad, Aldika Akbar Muhammad Ilham, Hariyasa Sanjaya I Nyoman, Putra Wiradnyana Anak Agung Gede, Aldiansyah Dudy, Dewantiningrum Julian, Adi Pramono Mochammad Besari, Wantania John, Sulistyowati Sri, Stanojevic Milan, Kurjak Asim
Department of Obstetrics and Gynecology, Maternal-Fetal Medicine Division, Eka Hospital BSD City, Serpong, Tangerang, Banten, Indonesia.
Department of Obstetrics and Gynecology, Maternal-Fetal Medicine Division, Faculty of Medicine Sebelas Maret University, Dr. Moewardi General Hospital, Solo, Indonesia.
J Perinat Med. 2025 May 28. doi: 10.1515/jpm-2025-0005.
The advent of non-invasive prenatal testing (NIPT) utilizing cell-free fetal DNA (cfDNA) has transformed the landscape of early chromosomal anomaly detection. When paired with high-resolution ultrasound imaging, it establishes a robust framework for prenatal diagnostics. This study explores the efficacy of merging NIPT findings with detailed ultrasound markers to enhance the identification of both chromosomal and structural fetal abnormalities. Data from 190 cases demonstrated a cfDNA efficacy rate of 91.58 % (cfDNA ≥4 %) and a detection rate of 4.74 % for aneuploidies. The investigation delves into key findings for trisomies, monosomies, and physical malformations, backed by state-of-the-art diagnostic benchmarks. Markers such as nuchal translucency (NT), craniofacial characteristics, and cardiac irregularities were analyzed alongside genetic results. This integrative strategy significantly refines diagnostic precision, paving the way for personalized prenatal care and management.
利用游离胎儿DNA（cfDNA）的无创产前检测（NIPT）的出现改变了早期染色体异常检测的局面。当与高分辨率超声成像相结合时，它为产前诊断建立了一个强大的框架。本研究探讨了将NIPT结果与详细的超声标志物相结合以提高对胎儿染色体和结构异常识别的有效性。来自190例病例的数据显示，cfDNA有效率为91.58%（cfDNA≥4%），非整倍体检测率为4.74%。该研究深入探讨了三体、单体和身体畸形的关键发现，并以最先进的诊断基准为依据。除了基因检测结果外，还分析了诸如颈部透明带（NT）、颅面特征和心脏异常等标志物。这种综合策略显著提高了诊断精度，为个性化的产前护理和管理铺平了道路。
