Background/Objectives: This study aimed to review current evidence on celocentesis as an early invasive prenatal diagnostic technique, focusing on its clinical applications, diagnostic accuracy, safety profile, and future perspectives in modern fetal medicine. Methods: A narrative review of the literature was conducted through PubMed and Scopus databases up to October 2025. Studies reporting original data on celocentesis—including prospective studies, case reports, and case series—were included. Relevant outcomes were feasibility, safety, and diagnostic accuracy. Results: Since its first description in 1993, celocentesis has been successfully performed between 6 and 9 weeks’ gestation in several small case series. Improvements in ultrasound resolution and molecular analysis techniques have significantly enhanced its reliability. In specialized centers using dedicated fetal cell selection and contamination-control workflows, analytical diagnostic success for selected monogenic conditions exceeds 99%. Reported miscarriage rates are comparable to what is expected at a very early gestational age (10% of all clinically recognized pregnancies). The procedure remains mainly experimental, with no standardized protocols or large multicentric validation. Conclusions: Celocentesis is the earliest available technique for prenatal genetic diagnosis. While promising, its clinical implementation requires further standardization, comprehensive operator training, and robust evidence from prospective studies regarding its safety and diagnostic reliability.

Celocentesis: Current Evidence and Future Directions

Visentin, Silvia;Andrisani, Alessandra;Cassina, Matteo;Cosmi, Erich
2026

Abstract

Background/Objectives: This study aimed to review current evidence on celocentesis as an early invasive prenatal diagnostic technique, focusing on its clinical applications, diagnostic accuracy, safety profile, and future perspectives in modern fetal medicine. Methods: A narrative review of the literature was conducted through PubMed and Scopus databases up to October 2025. Studies reporting original data on celocentesis—including prospective studies, case reports, and case series—were included. Relevant outcomes were feasibility, safety, and diagnostic accuracy. Results: Since its first description in 1993, celocentesis has been successfully performed between 6 and 9 weeks’ gestation in several small case series. Improvements in ultrasound resolution and molecular analysis techniques have significantly enhanced its reliability. In specialized centers using dedicated fetal cell selection and contamination-control workflows, analytical diagnostic success for selected monogenic conditions exceeds 99%. Reported miscarriage rates are comparable to what is expected at a very early gestational age (10% of all clinically recognized pregnancies). The procedure remains mainly experimental, with no standardized protocols or large multicentric validation. Conclusions: Celocentesis is the earliest available technique for prenatal genetic diagnosis. While promising, its clinical implementation requires further standardization, comprehensive operator training, and robust evidence from prospective studies regarding its safety and diagnostic reliability.
2026
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11577/3618198
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