Prenatal ultrasound diagnosis of poland syndrome.
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.


METHODS
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.


CONCLUSIONS
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.
Paladini
Dario
D
Fetal Cardiology Unit, Department of Gynecology and Obstetrics, University Federico II of Naples, Italy. paladini@unina.it
D'Armiento
Maria Rosaria
MR
Martinelli
Pasquale
P
D000328:Adult; D001344:Autopsy; D005260:Female; D005313:Fetal Death; D005315:Fetal Diseases / Q000000981:diagnostic imaging; D005817:Genetic Counseling; D005865:Gestational Age; D006801:Humans; D011045:Poland Syndrome / Q000000981:diagnostic imaging*; D011247:Pregnancy; D018570:Risk Assessment; D016216:Ultrasonography, Prenatal