The prenatal diagnosis of cloacal dysgenesis sequence in six cases: can the termination of pregnancy always be the first choice?

Prenat Diagn. 2004 Jan;24(1):10-6. doi: 10.1002/pd.768.


Objective: Cloacal dysgenesis sequence is a lethal malformation, which usually requires termination. In this study, our aim was to evaluate the prenatal and postnatal diagnostic features of cloacal dysgenesis sequence and review the management of the patients.

Material and methods: The data of six cases of cloacal dysgenesis sequences were collected from the ultrasonography and neonatal records. The findings were evaluated in prenatal and postnatal periods. Chromosomal analysis was performed in all the cases. The evaluation of primary and secondary malformations was done. Coexisting anomalies were searched for by radiology and histopathology.

Results: Malformations in six cases (two females and four males) were described. The absence of anal, genital, and urinary openings with intact perineum covered by smooth skin were common findings. These features were considered as primary malformations for cloacal dysgenesis sequence. Secondary anomalies (urinary and gastrointestinal system malformations, pulmonary hypoplasia, and other coexisting anomalies) were evaluated.

Conclusion: The prenatal differential diagnosis of cloacal dysgenesis sequence from other urinary obstructive diseases was essential regarding fetal prognosis, prenatal, and neonatal management. The bladder outlet obstruction and pulmonary hypoplasia due to reduced amniotic fluid and/or kidney disease were considered prognostic factors for neonatal death. Termination of pregnancy is almost always recommended instead of intrauterine shunt procedures; but if we take into consideration one of our cases and a few reported cases who survived in the neonatal period, the prenatal management of these pregnancies needs to be reevaluated.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / embryology
  • Abnormalities, Multiple / pathology
  • Abortion, Induced
  • Adult
  • Cloaca / abnormalities*
  • Cloaca / embryology
  • Female
  • Fetal Diseases / diagnosis
  • Fetal Diseases / diagnostic imaging
  • Fetal Diseases / pathology
  • Humans
  • Male
  • Pregnancy
  • Pregnancy Trimester, Second
  • Turkey
  • Ultrasonography, Prenatal
  • Urologic Diseases / diagnosis*
  • Urologic Diseases / diagnostic imaging
  • Urologic Diseases / embryology
  • Urologic Diseases / pathology