Margherita Vinciguerra

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 is a new sampling tool for prenatal diagnosis available from 7 weeks in case of couples at risk for genetic diseases. In this study, we reported the feasibility of earlier prenatal diagnosis by celocentesis in four cases of cystic fibrosis and one case of cystic fibrosis and β-thalassemia co-inherited in the same fetus. Celomic fluids were aspired from the celomic cavity between 8⁺² and 9⁺³ weeks of gestation and fetal cells were picked up by micromanipulator. Maternal DNA contamination was tested and target regions of fetal DNA containing parental pathogenetic variants of CFTR and HBB genes were amplified and sequenced. Four of the five fetuses resulted as being affected by cystic fibrosis and, in all cases, the women decided to interrupt the pregnancy. In the other case, the fetus presented a healthy carrier of cystic fibrosis. The results were confirmed in three cases on placental tissue. In one case, no abortive tissue was obtained. In the last case, the woman refused the prenatal diagnosis to confirm the celocentesis data; the pregnancy is ongoing without complications. This procedure provides prenatal diagnosis of monogenic diseases at least four weeks earlier than traditional procedures, reducing the anxiety of patients and providing the option for medical termination of the affected fetus at 8–10 weeks of gestation, which is less traumatic and safer than surgical termination in the second trimester.

Background: Turner syndrome is a rare genetic condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. In fetuses that survive at birth and without congenital malformations, the prognosis is usually positive, but it has high lethality in utero, especially in the first trimester of pregnancy. Methods: We report a case of monosomy X detected during a prenatal diagnosis for beta thalassemia on coelomic fluid (CF) at the VIII week of gestation. Beta globin gene analysis, whole genome amplification (WGA), quantitative fluorescent PCR and array comparative genomic hybridization (array-CGH) were performed on DNA extracted from CF. Results: A monoallelic pattern of all Short Tandem Repeats mapped on the X chromosome was found and array-CGH performed on WGA from a few fetal erythroblasts confirmed monosomy X. Conclusion: This report underlines the importance of an early prenatal diagnosis and the countless potentialities of array-CGH that could make definition of molecular karyotype possible from a few fetal cells, unlike conventional cytogenetic techniques that require a greater cellular content. This is the first report of a molecular karyotype obtained from two cells selected by micromanipulation of CF and defined at such an early gestational age.