<b><i>Objective:</i></b> To investigate the origin and outcome in a cohort of male and female fetuses with intra-abdominal cysts, in order to provide recommendations on management and to improve prenatal counselling. <b><i>Methods:</i></b> From 2002 to 2016, intra-abdominal cysts were detected by ultrasound in 158 fetuses. Cases with an umbilical vein varix were excluded. Fetal, neonatal, and maternal characteristics were retrieved from electronic patient files. <b><i>Results:</i></b> In female fetuses (<i>n</i> = 114), intra-abdominal cysts were diagnosed at a later gestational age compared with male fetuses (<i>n</i> = 44) (median 32.0 vs. 21.5 weeks, <i>p</i> < 0.001). The maximum prenatal cyst diameter was larger in female fetuses (median 35 vs. 17 mm, <i>p</i> < 0.001). Associated anomalies were less frequent in females (<i>n</i> = 15, 13.2%) compared with males (<i>n</i> = 15, 34.1%). In females (<i>n</i> = 114), most cysts were of ovarian origin (<i>n</i> = 81, 71.1%). Surgery was performed in 30 (26.3%) female and 15 (34.1%) male neonates (<i>p</i> = 0.33). Anorectal malformations were present in 6 cases and often not recognized prenatally. <b><i>Conclusions:</i></b> The differences in the origin of intra-abdominal cysts between male and female fetuses, resulting in differences in prenatal presentation and postnatal outcome should be taken into account in prenatal counseling within a multidisciplinary team. Evaluation of the fetal perianal muscular complex is indicated.
Prenatal assessment of the ribs and vertebral pattern by 3D ultrasound, which is currently not routinely performed, might be useful in the assessment of the fetus, because this can predict fetal and neonatal outcome in some cases.
Background: Cervical patterning abnormalities are rare in the general population, but one variant, cervical ribs, is particularly common in deceased fetuses and neonates. The discrepancy between the incidence in the general population and early mortality is likely due to indirect selection against cervical ribs. The cause for the co-occurrence of cervical ribs and adverse outcome remains unidentified. Copy number variations resulting in gain or loss of specific genes involved in development and patterning could play a causative role. Methods: Radiographs of 374 deceased fetuses and infants, including terminations of pregnancies, stillbirths and neonatal deaths, were assessed. Copy number profiles of 265 patients were determined using single nucleotide polymorphism array. Results: 274/374 patients (73.3%) had an abnormal vertebral pattern, which was associated with congenital abnormalities. Cervical ribs were present in 188/374 (50.3%) and were more common in stillbirths (69/128 [53.9%]) and terminations of pregnancies (101/188 [53.7%]), compared to live births (18/58, 31.0%). Large (likely) deleterious copy number variants and aneuploidies were prevalent in these patients. None of the rare copy number variants were recurrent or overlapped with candidate genes for vertebral patterning. Conclusions: The large variety of copy number variants in deceased fetuses and neonates with similar abnormalities of the vertebral pattern probably reflects the etiological heterogeneity of vertebral patterning abnormalities. This genetic heterogeneity corresponds with the hypothesis that cervical ribs can be regarded as a sign of disruption of critical, highly interactive stages of embryogenesis. The vertebral pattern can probably provide valuable information regarding fetal and neonatal outcome.
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