Prenatal ultrasound diagnosis of poland syndrome

Obstet Gynecol. 2004 Nov;104(5 Pt 2):1156-9. doi: 10.1097/01.AOG.0000128115.55051.90.

Abstract

Background: Poland syndrome is a congenital nongenetic anomaly characterized by unilateral chest wall hypoplasia, ipsilateral hand abnormalities, and hemivertebrae. It has not ben described so far in the fetus.

Case: The patient was referred for suspected left-arm hypomelia at 22 weeks of gestation. On ultrasonography, we confirmed the presence of severe left-sided hypomelia and detected an asymmetry of the rib cage and 3 thoracic hemivertebrae. The absence of heart defects led us to make the putative diagnosis of Poland syndrome. After termination of pregnancy, the diagnosis was confirmed by the pathologist.

Conclusion: The possibility of diagnosing Poland syndrome in utero is important for proper management and counseling. If the syndrome is suspected in a fetus, counselors may refer to specific postnatal data to provide the couple with survival rates, treatment options, and results and morbidity figures. If the pregnancy is terminated, a detailed necropsy is warranted to confirm the diagnosis because familial transmission has been reported.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Autopsy
  • Female
  • Fetal Death
  • Fetal Diseases / diagnostic imaging
  • Genetic Counseling
  • Gestational Age
  • Humans
  • Poland Syndrome / diagnostic imaging*
  • Pregnancy
  • Risk Assessment
  • Ultrasonography, Prenatal*