Bouariu Alexandra, Scutelnicu Ana Maria, Ciobanu Anca Marina, Cimpoca Raptis Brîndușa Ana, Dumitru Andreea Elena, Nedelea Florina, Gică Nicolae, Panaitescu Anca Maria
Filantropia Clinical Hospital Bucharest, 011117 Bucharest, Romania.
Department of Obstetrics and Gynecology, "Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Diagnostics (Basel). 2021 Dec 11;11(12):2332. doi: 10.3390/diagnostics11122332.
An allantoic cyst is a rare malformation with a frequency of 3 in 1,000,000 that may be seen antenatally by ultrasound assessment when the connection between the cloaca (future bladder) and the allantois fails to regress. A patent urachus that presents as a cyst (allantoic) is usually considered not to be associated with chromosomal abnormalities, but if it is not repaired after birth this leads to complications such as urinary tract infections and stone formation. We present a case of a fetus diagnosed with allantoic cyst at the first trimester ultrasound assessment at 12 weeks gestation. The follow up scans showed a decrease in size of the allantoic cyst with no other obvious major defects and, when invasive testing (amniocentesis with microarray analysis) was performed, a rare microdeletion, 1q21.1q21.2 was identified (1.82 Mb deletion).
脐尿管囊肿是一种罕见的畸形，发病率为百万分之三，当泄殖腔（未来的膀胱）与尿囊之间的连接未能退化时，可在产前通过超声评估发现。表现为囊肿（脐尿管）的开放性脐尿管通常被认为与染色体异常无关，但如果出生后不进行修复，会导致诸如尿路感染和结石形成等并发症。我们报告一例在妊娠12周时通过孕早期超声评估诊断为脐尿管囊肿的胎儿病例。后续扫描显示脐尿管囊肿大小减小，无其他明显的主要缺陷，并且在进行侵入性检测（微阵列分析羊水穿刺术）时，发现了一种罕见的微缺失，即1q21.1q21.2（1.82 Mb缺失）。
