Presence of Cervical Vertebral Anomalies with Concomitant Non-Communicating Hydrocephalus and Multicystic Kidney in a Female Fetus: Where VACTERL-H Meets MURCS

ABSTRACT

Background

Congenital multisystemic lesions with co-occurrence of non-random malformations, such as VACTERL-H or MURCS association, often pose serious threads to the newborn and still constitute an antenatal diagnostic dilemma.

Case report

A malformed fetus with VACTERL-H association at 20 gestational weeks had a skin-covered neural tube defect (NTD) of the lower cervical spine, concomitant hydrocephalus, as well as unilateral multicystic dysplastic kidney and the suspicion of mullerian duct anomaly as potentially assigned to MURCS association.

Discussion/Conclusion

We were able to demonstrate how well-defined, standardized volumetric reconstruction of diagnostic views displaying fetal pathology in utero might aid early and precise diagnosis of multi-organ malformations. Application of modern diagnostic imaging tools is helpful in delineation of the most likely diagnoses (VACTERL-H vs. MURCS) as further specified during detailed pathologic work-up and might consequently facilitate individually tailored interdisciplinary counseling, as in the case presented here.

KEYWORDS:

• 3D ultrasound
• prenatal
• malformation
• VACTERL-H
• MURCS

Data availability statement

All information generated or analyzed in this case report is included in this published article. The manuscript has not been submitted or published anywhere. It will not be submitted elsewhere until the editorial process is completed.

Funding

The authors declare that this study did not receive any funding.

Statement of ethics

Due to the anonymized data in this case report, no ethics application was required.

Authors contributions

CD: Manuscript preparation/writing. CD, JW: Data acquisition. JW, MG, JLS, AW: Manuscript editing/correction. NB: Image generation. JW: Image editing

Disclosure statement

The authors listed in the manuscript declare that they have no conflict of any relevant financial or non-financial interest.

Funding

The author(s) reported there is no funding associated with the work featured in this article.