Search

Objective: To report the diagnostic accuracy of cell‐free fetal DNA (cfDNA) in detecting fetal chromosomal anomalies in women experiencing miscarriage. Methods: PubMed, MEDLINE, EMBASE and Cochrane databases were searched from inception to June 2024. The inclusion criteria were women experiencing miscarriage (defined as pregnancy loss before 20 weeks of gestation) who underwent cfDNA screening for trisomies 21, 18 and 13, other autosomal aneuploidies, sex‐chromosome aneuploidies and/or copy‐number variants (CNVs). The index test was cfDNA screening for each of the chromosomal anomalies listed. The reference standard was cytogenetic analysis of pregnancy tissue. The quality of the studies was assessed using the revised tool for the quality assessment of diagnostic accuracy studies. Summary estimates of sensitivity, specificity, positive and negative likelihood ratios, and diagnostic odds ratio were computed using the hierarchical summary receiver‐operating‐characteristics model. Results: Seven studies (887 women) were included in the systematic review and meta‐analysis. cfDNA had a sensitivity and specificity of 100% (95% CI, 81.5–100%) and 100% (95% CI, 99.1–100%), respectively, for trisomy 21, 100% (95% CI, 54.1–100%) and 100% (95% CI, 99.0–100%), respectively, for trisomy 18, and 88.9% (95% CI, 51.8–99.7%) and 100% (95% CI, 99.1–100%), respectively, for trisomy 13. The respective values for other autosomal trisomies were 75.8% (95% CI, 65.7–84.2%) and 99.4% (95% CI, 97.9–99.9%), while those for CNVs were 60.0% (95% CI, 14.7–94.7%) and 100% (95% CI, 97.4–100%). Failure of cfDNA testing was reported in 7.3% (95% CI, 5.7–9.2%) of cases. Conclusion: cfDNA has high diagnostic accuracy in detecting fetal trisomies 21, 18 and 13 in women experiencing miscarriage, while its accuracy for other autosomal aneuploidies and CNVs is only moderate. © 2024 International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

An abstract of the article "Role of fetal MRI in mild and moderate ventriculomegaly: prognostic value of biometric parameters and cortical sulcation," by M. Pellegrini, A. Tartaro, B. Matarrelli, F. D'Antonio, C. Antonio, and C. Celentano is presented.

An abstract of the article "Evaluation of PAPP-A and free beta hCG in enlarged nuchal translucency: benefit in first trimester screening," by L. Barbacane, F. D'Antonio, E. Colantuono, F. Miglietta, B. Matarrelli and C. Celentano is presented.

An abstract of the article "Fetal epidural hematoma following 'non primary' Cytomegalovirus infection: a case report," by M. Pellegrini, F. D'Antonio, S. Frondaroli, L. Marrone, B. Matarrelli, and C. Celentano is presented.

An abstract of the article "Effect of IVF/ICSI on second trimester screening markers," by E. Colantuono, F. D'Antonio, M. Recchi, L. Marrone, B. Matarrelli and C. Celentano is presented.

An abstract of the article "Subependymal heterotopia: US and MR diffusion tensor imaging," by B. Matarrelli and colleagues is presented.

An abstract of the article "Early treatment of gestational diabetes and obstetric adverse outcome prevention," by G. Pavone and colleagues is presented.

An abstract of the article "Fetal cardiac rhabdomiomas: MRI and tissue Doppler imaging," by B. Matarrelli and colleagues is presented.

An abstract of the article "Dilated right ventricle and foramen ovale restriction: a 'near' physiology view," by B. Matarrelli, L. Marrone, C. Celentano is presented.

An abstract of the conference paper "Amnioinfusion during second trimester," by C. Celentano and B. Matarrelli is presented.

An abstract of the conference paper "Early fetal echocardiography with high-resolution blood flow imaging" by C. Celentano and colleagues is presented.

Summary: A magnetic resonance (MR) diffusion tensor imaging (DTI) study was performed in a newborn with bilateral subependymal heterotopia (SE). White matter fractional anisotropy (FA), axial diffusivity (AD) and radial diffusivity (RD) were compared to values obtained in four newborns with moderate perinatal asphyxia and normal MRI findings. The reduction of FA and increase of AD and RD in the newborn with SE were the in vivo late expression of alterations in the intermediate zone, with an underlying arrest of neuronal migration. [ABSTRACT FROM AUTHOR]