Performance of diagnostic ultrasound to identify causes of hydramnios

• Published in: Prenatal diagnosis 2021-01, Vol.41 (1), p.111-122
• Main Authors: Adam, Marie‐José, Enderle, Isabelle, Le Bouar, Gwenaëlle, Cabaret‐Dufour, Anne‐Sophie, Tardif, Cécile, Contin, Laurence, Arnaud, Alexis, Proisy, Maïa, Jaillard, Sylvie, Pasquier, Laurent, Le Lous, Maela
• Format: Article
• Language: English
• Subjects: Amniocentesis; Anomalies; Chromosomes; Diabetes mellitus; Diagnosis; Diagnostic systems; Dystrophy; Esophagus; Etiology; Fetuses; Gynecology and obstetrics; Human health and pathology; Life Sciences; Magnetic resonance imaging; Medical diagnosis; Myotonic dystrophy; Pathology; Prader-Willi syndrome; Pregnancy; Ultrasonic imaging; Ultrasound
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/pd.5825

Introduction We aimed to assess the diagnostic yield of ultrasonography in the identification of the etiology of hydramnios, and the added value of MRI or amniocentesis. Methods We conducted a single‐center retrospective study including pregnancies with confirmed hydramnios (defined as deepest pocket ≥8 cm) between January 2013 and May 2017. Twin pregnancies, secondary hydramnios discovered after the diagnosis of a causal pathology, and pregnancies of unknown outcome were excluded. All pregnancies underwent a targeted scan, and selected cases underwent MRI or amniocentesis. Results A total of 158 patients with confirmed hydramnios were included. Hydramnios was associated with a fetal pathology in 37 cases (23.4%), with diabetes in 39 (24.6%), isolated macrosomia in 16 (10.1%), and considered idiopathic in 66 (41.7%). Ultrasonography established a diagnosis of the underlying pathology in 73% of cases. Amniocentesis was done in 31 cases (20%) and it allowed diagnosis of chromosome anomalies, esophageal atresia, myotonic dystrophy congenital type, Prader‐Willi syndrome, and Bartter syndrome. MRI was done in 15 cases (10%) and it allowed one additional diagnosis of esophageal atresia. The diagnostic yields of MRI and amniocentesis were 91.7% and 95.2%, respectively. There were five false positive diagnoses at ultrasonography, and one false positive diagnosis at MRI. Conclusion Hydramnios can be associated with a wide variety of underlying pathologies. Diagnostic ultrasound can attain a diagnosis in the majority of cases. Amniocentesis offers a valuable complementary assessment.