Table 1.
Study characteristics.
| Study, Author Type Year |
Number of Reported Patients | Gestational Age at Diagnosis (Weeks) | Ultrasound Findings at Diagnosis | NT (mm) | Associated Anomalies | Fetal Gender | Genetic Assessment | Follow-Up Image Findings | Pregnancy Outcome | Neonatal/Post Termination Diagnosis |
|---|---|---|---|---|---|---|---|---|---|---|
| Bronshtein M CS 2017 [9] |
2 | 13 + 4 14 + 0 |
transient, distended, and right-sided sigmoid colon transient, distended, and right-sided sigmoid colon |
NR NR |
Ambiguous genitalia, single echogenic kidney, frontal bossing, skull demineralization, hemivertebra No |
NR NR |
NP NP |
NP Spontaneous resolution of cystic mass at 19 weeks. | TOP first trim Live born |
Anal atresia confirmed, VACTERL Anal atresia confirmed |
| Carroll SG CR, 1996 [10] |
1 | 12 | Abdominal multiple cystic structure | NR | No | F | Normal 46 XX |
Megacystis, hyper echogenic bowel, ascites, oligohydramnios. | TOP Sec trim |
Female pseudo hermaphroditism with agenesis of the urethra, vagina, and rectum. |
| Chen M 2009 CR [11] |
1 | 12 | Multiple dilated bowel loops within the lower abdomen | 1.9 | NR—poor visibility due to maternal obesity | F | N 46 XX | NR—poor visibility due to maternal obesity | Spontaneous miscarriage sec trim | Atrogryposis multiples, CoA, univentriculr heart |
| Correia P CR, 2017 [12] |
1 | 12 | Hypoechoic tubular-shaped cyst was observed, on a retrovesical location, at the left lower abdomen. | NR | Abnormal male genitalia | M | N46XY | Dilated sigmoid showed intraluminal hyperechogenic foci suggestive for vesicorectal fistula | TOP sec trim | Anorectal agenesis, vesicorectal fistula, hypospadias |
| Dhombres F POS [13] | 1 | 12 + 2 | Hyperechogenic pelvic structure | 1.9 | No | NR | NP | Resolution of image at 17 weeks | Live born | Isolated imperforate anus |
| Gilbert A CR 2009 [14] |
1 | 12 + 6 | Cystic structure with a distal tapered appearance within the abdomen and pelvis of the fetus with an echogenic focus that did not exhibit echogenic shadowing | N | No | M | N | No anomaly at 24 weeks. | Emergency CS 29 weeks. –IUGR and fetal distress | Imperforate anus horseshoe kidney and low termination of the spinal cord at the third lumbar vertebral body. |
| Girz 2008 CR [15] |
1 | 12 (?) | large cystic structure on the anterior fetal abdomen (identified as omphalocel). | Thoracic kyphoscoliosis | F | N46XX | Persistent anomaly 20 weeks consistent with OEIS | TOP 20 weeks | OEIS | |
| Lam YH CR 2002 [16] |
1 | 12 | sausage shaped cystic mass (11 × 6 × 6 mm) in the right lower anterior abdominal cavity |
1.4 | No | M | N 46XY |
No progression of the cystic mass, oligoanhidramnios | TOP Sec trim |
anal atresia, malrotation of the gut, dilated sigmoid colon and rectum and a perimembranous ventricular septal defect |
| Liberty G SLR&CR 2018 [17] |
1 | 13 + 1 | cystic structure measuring 7 × 8 × 4 mm was identified in the right lower abdomen which tapered toward its distal part in the pelvis |
1.7 | No | M | N CGarray 46XY |
16 weeks., cystic mass replaced by tubular shaped echogenic structure 21 weeks. absence of target sign (anal sphincter) prominent midline skin bridge in the fetal perineum | TOP sec trim | Absence of anal sphincter, high type ARA. |
| Mallman, M.R 2014 CR [4] |
1 | 14 + 1 | 41 × 34 mm large cystic structure in the lower abdomen with | NR | Bladder extrophy, omphalocel OEIS | M | NP | NP | TOP 17 weeks | OEIS confirmed |
| Novikova I, CR 2011 [18] |
2 | 11 + 2 11 + 3 |
dilated bowel within the lower abdominal cavity (10.0 mm × 2.0 mm) 8.4 mm anechogenic tubular structure in the lower abdomen (misdiagnosed as megacystis) | 2.5 1.05 |
No No |
F M |
N 46 XX T21 47XY |
16 weeks.–anhidramnios, no urinary bladder, no kidneys NP |
TOP sec trim TOP early sec trim |
Imperforate anus, rectal atresia, multiple anomalies compatible with Fraser syndrome Inconsistent due to tissue destruction during D&C (rectum dilatation?) |
| Santos J2013 Cr [19] |
1 | 13 | abdominal cystic formation | NR | caudal dysplasia with hypoplastic lower limbs | M | N 46XY | NP | TOP first trim | Multiple anomalies suggestive for VACTERL syndrome |
| Taipale P CR 2005 [20] |
1 | 12 | hypoechogenic cystic mass (14 × 7 × 8 mm) in the lower abdomen | 1.1 | No | M | NP | Similar findings as in first trim | Living birth | Anal atresia with fistula |
| Wax 2008 CR [21] |
1 | 13 | large multilocular cystic ventral wall mass measuring 4.7 3 4.0 3 3.5 cm |
Cystic Hygroma | Thoracic hemyvertebrae | M | N46XY | 16 weeks omphalocel splayed lumbosacral vertebrae and bilateral clubbed—OEIS |
TOP 20 weeks | OEIS confirmed bifid phallus, symphyseal diastasis, imperforate anus, and no clear buttocks cleft |
NT: nuchal translucency; F: feminine; M: masculine; N: normal; NP: not performed; NR: not reported; OEIS: omphalocele, exstrophy of the fetal bladder, imperforate anus, spinal anomalies; VACTERL syndrome: vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities; TOP: Termination of pregnancy; sec: second; CoA: Coarctation of Aorta; IUGR: Intrauterine Growth Restriction; ARA: Anorectal atresia; D&C: Dilatation and curretage.