Table 1.
Summary of ARM cases suspected during the first trimester of pregnancy
| Study | N° patients | Fetal Gender | Gestational Age at Diagnosis (weeks) | Ultrasound aspect of the lower abdominal lesion | Genetic Assessment | Term of Pregnancy | Type of ARM (Postpartum/Postmortem diagnosis) |
|---|---|---|---|---|---|---|---|
| Carroll [11] | 1 | F | 12 | Multiple cysts | Normal 46XX | 2nd trimester | Female pseudohermaphroditism with agenesis of the urethra, vagina, and rectum |
| Lam [12] | 1 | M | 12 | Sausage-shaped cystic mass (11 × 6 × 6 mm) | Normal 46XY | 2nd trimester | Anal atresia, malrotation of the gut, dilated sigmoid colon and rectum and a perimembranous ventricular septal defect |
| Taipale [13] | 1 | M | 12 + 4 | Hypoechogenic cystic mass (14 × 7 × 8 mm) | / | Live born | Anal atresia with fistula |
| Gilbert [14] | 1 | M | 12 + 4 |
Cyst with a distal tapered appearance |
/ | Live born | Imperforate anus horseshoe kidney and low termination of the spinal cord at the third lumbar vertebral body |
| Chen [15] | 1 | F | 12 | Multiple dilated bowel loops | 46 XX | Spontaneous miscarriage (18 weeks) | Anorectal atresia, arthrogryposis multiplex, CoA, univentricular heart |
| Novikova [16] | 2 |
F M |
11 + 2 11 + 3 |
Dilated bowel in the lower abdomen (10 × 2 mm) Hypoechogenic ovoid structure (19 × 10 mm) |
Normal 46 XX Trisomy21 XY |
18 weeks 12 weeks |
Anorectal atresia + multiple anomalies compatible with Fraser syndrome Anorectal malformation in Down syndrome |
| Santos [17] | 1 | M | 13 | Cystic formation | Normal 46 XY | 1st trimester | VACTERL syndrome |
| Bronshtein [18] | 2 |
/ / |
13 + 4 14 |
Distended sigma Distended sigma |
/ / |
1st trimester Live born |
Anal atresia and VACTERL Anal atresia |
| Correia [19] | 1 | M | 12 | Hypoechoic tubular-shaped cyst | Normal 46 XY | 23 weeks | Agenesis of the distal portion of the rectum and the anus, rectovesical fistula, glandular hypospadias |
| Liberty [8] | 1 | M | 13 + 1 |
Tubular cystic structure (7.5 × 8.5 × 4 mm) |
Normal 46 XY | 23 weeks | High type ARM |
| Ples [20] | 1 | M | 11 + 3 |
Anechoic tubular structure |
Arr (1–22) × 2, (XY) × 1 | Live born | Perineal fistula |
| Our experience | 3 |
M F M |
12 + 4 13 12 + 6 |
Cystic structure (8 mm) Cystic structure (5 mm) Cystic structure (8 mm) |
Normal 46 XY Normal 46 XX Normal 46 XY (Prenatal detection of MNX1 gene mutation) |
Live born Live born (pPROM) Live born |
ARM without fistula Rectovestibular fistula Bucket-handle in Currarino Syndrome (altered sacrum, tethered cord) |
Abbreviations: pPROM preterm premature rupture of membranes