Here is a synthesis of current research on anorectal malformations (ARM) and prenatal ultrasound detection:
Anorectal Malformations (ARM) and Prenatal Ultrasound - Research Summary
What Are ARMs?
Anorectal malformations are a spectrum of congenital defects of the distal bowel and anorectal region. They range from mild (low-type, such as simple anal stenosis or rectovestibular fistula) to severe (high-type, such as rectobladder neck fistula, cloacal malformations). Incidence is approximately 1 in 2,500-5,000 live births.
Why Prenatal Detection Is Difficult
The core challenge is that the fetal anus and perianal region are small, deep structures that are hard to image consistently. Research consistently shows prenatal detection rates have historically been
very low - ranging from 0% to 16% in most series (
Huijgen et al., Erasmus MC, 2024-2025). Most ARMs are still diagnosed at birth.
Key Ultrasound Signs Researched
1. The "Target Sign" (Most Important Direct Sign)
The normal fetal anus appears on perineal transverse ultrasound as:
- A central hyperechoic anal mucosa surrounded by a hypoechoic sphincter ring - resembling a target/bullseye
- Called the "target sign" (TS)
When the target sign is absent or abnormal (displaced/deformed), ARM should be suspected. A 2024/2025 study from Erasmus MC found that an abnormal target sign predicted simple ARM type with 91% diagnostic accuracy.
However, a major 2026 study (
Zhang et al., J Clin Ultrasound, PMID 41123058) identified a critical pitfall - a
"pseudo target sign": in 100% of missed imperforate anus cases, a false target sign was present that looked normal but was not. This is a major cause of missed diagnoses.
2. Indirect Signs
These are less specific but raise suspicion:
- Dilated distal bowel / bowel distension (found in 21.9% of confirmed ARM fetuses prenatally)
- Echogenic meconium - meconium mixed with urine (suggests fistula between rectum and urinary tract)
- Echogenic bowel (soft marker)
- Hydrocolpos (in female fetuses with cloaca)
- Abnormal genitalia
- Polyhydramnios (found in ~15.6% of ARM cases)
3. The "Line Sign"
A newer feature - an interrupted or abnormal mucosal hyperechoic line on sagittal view - can help identify anal canal problems. The 2026 Zhang study found that when sagittal and coronal multi-plane scanning was done alongside transverse, diagnostic accuracy improved significantly.
The Anal Dimple (AD) Approach
A prospective study from Children's Hospital Colorado (
Bischoff et al., 2021, PMID 33399927) demonstrated:
- The anal dimple (AD) can be visualized in 58.6% of ultrasound encounters and 81% per individual fetus
- Optimal gestational age for AD visualization: 28-33 weeks (consistent with peak fetal sphincter development)
- At 21 weeks (like Mrs. Anusha's scan), visualization rates are lower - this is part of why the scan noted the finding could not be excluded
- Routine AD evaluation is not yet standard in US national guidelines but is practiced in some centers
New Multicenter Study - Outstanding Accuracy with New Protocol
A major 2024 multicenter prospective cohort study published in Scientific Reports found that with a new standardized protocol using both coronal and transversal planes:
- Screening feasibility: 99.41% of fetuses
- Sensitivity: 94%, Specificity: 99.99%
- AUC (diagnostic accuracy): 0.970 - rated as "outstanding"
- This far exceeds older single-plane approaches
The Role of Fetal MRI
A 10-year Swiss tertiary center study (
Rohrer et al., 2020, PMID 31482265) showed:
- Ultrasound alone detected ARM signs in only 31% prospectively
- Fetal MRI detected signs in 50% prospectively and 100% retrospectively
- MRI was superior, especially for cloacal malformations (complex ARMs)
- MRI changed clinical management in 2 out of 14 cases
- Fetal MRI is now recommended as a complementary tool when ARM is suspected on ultrasound
Associated Anomalies (VACTERL)
ARMs rarely occur in isolation. Research shows that
71% of prenatally detected ARM fetuses have at least one additional VACTERL anomaly (
Huijgen et al., 2024/2025):
- Vertebral anomalies
- Anorectal malformations
- Cardiac defects
- Tracheo-Esophageal fistula
- Renal anomalies
- Limb defects
This is why a full anomaly survey is essential when ARM is flagged.
What This Means for Mrs. Anusha's Scan
| Research Finding | Relevance to This Case |
|---|
| Detection rates low at 21 weeks | The scan at 21W appropriately notes it "cannot be excluded" - this is honest and guideline-consistent |
| Optimal AD visualization: 28-33 weeks | The recommended repeat scan at 28 weeks aligns perfectly with the best window for re-evaluation |
| Fetal MRI if suspicion high | If the 28-week scan raises concern, MRI can be requested |
| VACTERL associations | The scan has already checked and found all other structures (heart, spine, kidneys) are normal - reassuring |
| Current cardiac, renal, spinal anatomy | All confirmed normal - makes isolated ARM more likely than a syndrome if present |
Bottom line from the research: The sonologist's note that "high anorectal malformation cannot be excluded" is standard, evidence-based cautionary language at 21 weeks. The 28-week repeat scan is exactly the right next step, as that is the peak window for anal dimple visualization. If there is still concern at 28 weeks, a fetal MRI is the best complementary investigation.