First trimester lower abdominal cysts as early predictor of anorectal malformations

Abstract

Introduction Prenatal ultrasound diagnosis of anorectal malformations (ARMs) is challenging and often missed as direct visualization of the anal sphincter is not routinely performed, plus the technique is operator-dependent and inaccurate, also in expert hands. Other indirect signs, such as rectosigmoid overdistension or intraluminal calcifications, are occasionally present in late pregnancy. The detection of a cyst of the lower abdomen in the first trimester may be an early sign of ARM. Here we reported our experience and a review of the literature of such cases. Material and methods Isolated cases of lower abdomen cysts encountered in the first trimester at the Prenatal Diagnosis Unit during the last 5 years were retrieved and compared with those found in literature. Post-natal clinical data were analyzed to check the presence and type of malformations. Results A total of three cases of lower abdomen cysts were found in our center and 13 in literature. In our case series all the cysts spontaneously regressed and were no longer visible since the second trimester of pregnancy, while in literature this was reported in only 4 out of 13 cases. ARM was confirmed in all patients at birth or post-mortem. Conclusions The finding of a lower abdomen cyst during the first trimester of pregnancy could be an early predictive sign of ARM, even if it disappears during pregnancy. In these cases, we suggest mentioning to the parents the possibility of an ARM during the counseling and to refer the couple to a Colorectal Center. Graphical Abstract

Fetal abdominal cysts: Predicting adverse outcomes

“…According to Khalil et al 3 and Erculiani et al, 9 abdominal cysts detected in the first trimester are more frequent in male fetuses and more frequently associated with anorectal malformations, even if the cysts resolved during pregnancy as shown by Sepulveda et al, 4 which is consistent with our findings (two out of eight fetuses were diagnosed in the first trimester). Overall prognosis of these fetuses is poorer than that of those diagnosed in the third trimester, 3 especially if there are other associated abnormalities, 9 which is consistent with our findings (first‐trimester diagnosis, male fetuses, and association with other abnormalities as markers of poor prognosis).…”

“…Gender distribution of fetal abdominal cysts changes throughout pregnancy: they are more frequent in male fetuses in the second trimester and in female fetuses in the third trimester, which is consistent with other larger studies, such as that by Ozkose et al 7 Husen et al 5 showed cyst regression in the third trimester for 67.9% of cases, which is higher than the figures reported by which is consistent with our findings (two out of eight fetuses were diagnosed in the first trimester). Overall prognosis of these fetuses is poorer than that of those diagnosed in the third trimester, 3 especially if there are other associated abnormalities, 9 which is consistent with our findings (first-trimester diagnosis, male fetuses, and association with other abnormalities as markers of poor prognosis).…”

“…Of the abdominal abnormalities detected in female fetuses, ovarian cysts are the most common 6,7 . For this reason, gastrointestinal, 9 renal and genital abnormalities in female fetuses are often misdiagnosed as ovarian cysts 6 . Ultrasound features of the cyst, association with other abnormalities, its location, and its evolution during pregnancy may help to establish the anatomical and functional origin of the cyst, and to predict its postnatal outcome and prognosis 1–6,8–13 …”

“…6 Ultrasound features of the cyst, association with other abnormalities, its location, and its evolution during pregnancy may help to establish the anatomical and functional origin of the cyst, and to predict its postnatal outcome and prognosis. [1][2][3][4][5][6][8][9][10][11][12][13] The main concerns for parents and physicians providing medical care for these women are the chances of adverse perinatal outcomes, such as fetal or neonatal loss, neonatal complications, and the need for surgical treatment. 2 Thus, providing information about fetal and neonatal prognosis is key for a good management of these patients.…”

“… 6 Ultrasound features of the cyst, association with other abnormalities, its location, and its evolution during pregnancy may help to establish the anatomical and functional origin of the cyst, and to predict its postnatal outcome and prognosis. 1 , 2 , 3 , 4 , 5 , 6 , 8 , 9 , 10 , 11 , 12 , 13 …”