Contribution of magnetic resonance imaging to the prenatal diagnosis of common congenital vascular anomalies

Abstract

Background Screening ultrasound (US) has increased the detection of congenital vascular anomalies in utero. Complementary magnetic resonance imaging (MRI) may improve the diagnosis, but its real utility is still not well established. Objectives We aimed to describe the imaging findings on prenatal US and MRI of the most frequent congenital vascular anomalies (lymphatic malformations and congenital hemangiomas) to assess the accuracy of prenatal US and MRI exams for diagnosis and to evaluate the relevance of the additional information obtained by complementary fetal MRI. Materials and methods All confirmed postnatal congenital vascular anomalies detected in the last 10 years at 3 university hospitals were retrospectively identified. The prenatal diagnosis was compared with the final diagnosis for both methods and the clinical relevance of additional MRI information was evaluated. A second MRI in advanced pregnancy was performed in fetuses with lesions in a sensitive anatomical location and the clinical relevance of the additional information was evaluated. Results Twenty-four cases were included in the study, 20 lymphatic malformations and 4 hemangiomas. MRI slightly improved the diagnosis of lymphatic malformation, 85% vs. 80% at US, especially for abdominal lesions. Both methods had a low identification rate (25%) for tumors. MRI performed late in five fetuses with lymphatic malformation allowed optimized management at birth. Conclusion MRI improves the diagnosis of congenital lymphatic malformations whereas hemangiomas remain difficult to identify in utero. The main role of MRI is to provide high-defined anatomical data to guide management at birth.

The value of fetal magnetic resonance imaging in diagnosis of congenital anomalies of the fetal body: a systematic review and meta-analysis

“…Seven studies [ 10 – 12 , 14 , 16 , 17 ] investigated renal or urinary tract anomalies. Two studies [ 13 , 15 ] looked at anomalies of the fetal chest, another two studies [ 15 , 21 ] focused on abdominal anomalies, one study [ 18 ] examined vascular anomalies and one [ 19 ] was investigating fetal genital anomalies. None of the included studies involved cervical masses, although these were not specifically excluded.…”

“…Risk of bias concerning the index test was high in 3/12 studies [ 12 , 17 , 19 ] where MRI scans were performed due to inconclusive ultrasound results and was low risk in the remaining nine studies [ 10 , 11 , 13 – 16 , 18 , 21 ]. Risk of bias introduced by the reference standard was low risk in all studies as ultrasounds were repeated by the tertiary centres performing the MRIs and the diagnoses made from these ultrasounds were used in the analysis.…”

“…Risk of bias introduced by the reference standard was low risk in all studies as ultrasounds were repeated by the tertiary centres performing the MRIs and the diagnoses made from these ultrasounds were used in the analysis. The risk of bias relating to flow and timing was determined by the time between ultrasound and MRI scan; this was low risk in 5/12 [ 20 , 12 – 14 , 21 ], unclear in 6/12 [ 10 , 11 , 15 – 18 ] where scan timings were not given and high risk in 1/12 [ 19 ] where there was more than two weeks between ultrasound and MRI scan.…”

The utility of pathologic examination and comprehensive phenotyping for accurate diagnosis with perinatal exome sequencing

“…13,14 In studies assessing the concordance of prenatal MRI and postnatal diagnoses made with postnatal imaging or autopsy, prenatal MRI missed relevant findings in 4%-37% of cases with variation by organ system. [15][16][17][18] Further, one study reanalyzed prenatal cases of anomalies that had normal results of ES based on the prenatal phenotype alone, and found a missed genetic diagnosis in 20% of cases when the postnatal or pediatric phenotype was incorporated into the sequencing analysis. 12 There are undoubtedly many opportunities to improve our phenotyping abilities with prenatal imaging, although some limitations may be unavoidable, such as early stage of a developing fetus.…”

“…In studies evaluating the concordance of prenatal ultrasound and autopsy, autopsy provided additional information in 22%–58% of cases and changed the initial diagnosis in 1%–33% of cases 13,14 . In studies assessing the concordance of prenatal MRI and postnatal diagnoses made with postnatal imaging or autopsy, prenatal MRI missed relevant findings in 4%–37% of cases with variation by organ system 15–18 . Further, one study reanalyzed prenatal cases of anomalies that had normal results of ES based on the prenatal phenotype alone, and found a missed genetic diagnosis in 20% of cases when the postnatal or pediatric phenotype was incorporated into the sequencing analysis 12 .…”