VP01.13: Predicting aneuploidy with first trimester ultrasound: a systematic review and meta‐analysis

Abstract

As part of investigations for recurrent miscarriage, pregnancy tissue is sent for cytogenetic tests. A common cause of miscarriage is abnormal fetal karyotype. Diagnosis depends on the collection of uncontaminated pregnancy tissue which is not achieved in 25% of cases (Carp et al, 2001). This study sought to assess the potential role of ultrasound in diagnosis of abnormal karyotype in the first trimester. A prospectively registered (PROSPERO) systematic review of observational studies was performed. All studies reporting karyotype and ultrasound features in the first trimester were included. A pooled estimate of predictive capacity was generated using a random-effects model. Sensitivity and specificity of sonographic features was assessed. We included 66 papers with a total of 104468 cases. The presence of a fetal pole (OR 0.12, 0.09-0.15, p= 0.00001), yolk sac abnormalities (OR of 2.81, 1.25-6.30, p= 0.01) and small/restricted CRL (OR 1.64, 1.25-2.51, p= 0.0003) were related to abnormal karyotype. The sensitivity and specificity of ultrasound features are seen in the graph below. This review has demonstrated the role of ultrasound in diagnosing first trimester aneuploidy. It suggests that although ultrasound has a low sensitivity for diagnosis; several features are highly specific. Patients can be given information regarding the likelihood that their miscarriage was an abnormal pregnancy on the basis of ultrasound features. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.