Clinical Utility of Targeted Essential NIPT Panels and Real-World Management Outcomes: A 3-Year Single-Center Retrospective Cohort Study (2024–2026) at Restu Ibu Sragen General Hospital
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Targeted essential noninvasive prenatal testing (NIPT) panels, which focus on common autosomal trisomies and sex chromosome aneuploidies, offer a more affordable approach to cell-free DNA (cfDNA) screening. However, real-world evidence regarding how these results are integrated with first-trimester ultrasonography and translated into clinical management decisions in Indonesian private-practice settings remains limited. This study aimed to describe the distribution of targeted essential NIPT results, associated sonographic findings, and subsequent management pathways at a single center. We conducted a retrospective observational study of 52 consecutive patients who underwent targeted essential NIPT for trisomies 21, 18, and 13 and sex chromosome aneuploidies at Restu Ibu Sragen General Hospital between January 2024 and September 2026. Maternal demographic characteristics, gestational age at screening, nuchal translucency (NT), ductus venosus (DV) flow, screening results, and subsequent management were extracted from clinical records and summarized descriptively with Wilson 95% confidence intervals (CIs). Forty-eight patients (92.3%; 95% CI, 81.8–97.0) had low-risk results, whereas four (7.7%; 95% CI, 3.0–18.2) had high-risk results. All four high-risk cases demonstrated increased NT. Amniocentesis was deferred in all four cases, and the patients subsequently underwent serial high-resolution fetal ultrasonography and multidisciplinary counseling. Within the low-risk group, two to three patients had NT >3 mm or reversed a-wave flow in the DV, and one fetus had incidentally detected anal atresia. Targeted essential NIPT represents a practical and accessible screening option; however, it screens for a limited range of chromosomal abnormalities and should not be considered diagnostic. Its clinical utility is greatest when integrated with first-trimester and detailed fetal anatomical ultrasonography and when high-risk results are followed by structured counseling that includes the option of diagnostic testing. Because diagnostic confirmation was not obtained, positive and negative predictive values could not be estimated.
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