Predictive value of fetal ultrasonography in the diagnosis of a lethal skeletal dysplasia.
BACKGROUND
Certain ultrasonographic findings identified in a fetus suspected of having a skeletal dysplasia may be predictive of a lethal outcome.


METHODS
We evaluated 27 fetuses suspected of having a skeletal dysplasia using targeted ultrasonography between 16 and 31 weeks' gestation. Clinical examination and skeletal radiography were done after delivery.


RESULTS
A skeletal dysplasia was confirmed and a diagnosis established in all but one case. The skeletal dysplasia was lethal in 23 cases and, in each case, the outcome was accurately predicted prenatally; however, three of the infants survived several months. In 11 of the 23 cases (48%), the specific diagnosis was correctly determined before birth. Ultrasonographic findings not considered to reflect a lethal outcome, were accurately predicted in two other cases. In an additional two, sonographic examination suggested a lethal osteochondrodysplasia, though both survived. Findings consistent with a lethal skeletal dysplasia included a femur length < 1st centile, combined with either a bell-shaped thorax, decreased bone echogenicity, or both. Using these criteria provided a positive-predictive value for neonatal deaths of 80% (20/25), and 92% (23/25) if the three that died in infancy were included.


CONCLUSIONS
In the fetus suspected of having a skeletal dysplasia, certain findings on targeted ultrasonography frequently are predictive of a lethal outcome; the ability to predict this appears greatest when more than one of these abnormalities is present.
Hersh
J H
JH
Child Evaluation Center, Department of Pediatrics, University of Louisville, KY 40202-3828, USA.
Angle
B
B
Pietrantoni
M
M
Cook
V D
VD
Spinnato
J A
JA
Clark
A L
AL
Kurtzman
J T
JT
Bendon
R W
RW
Gerassimides
A
A
D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000196:embryology; D002113:Calcification, Physiologic; D002423:Cause of Death; D036861:Delivery, Obstetric; D005260:Female; D005269:Femur / Q000000981:diagnostic imaging / Q000196:embryology; D005313:Fetal Death; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D005500:Follow-Up Studies; D005865:Gestational Age; D006801:Humans; D007226:Infant Mortality; D007231:Infant, Newborn; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000473:pathology; D011237:Predictive Value of Tests; D011247:Pregnancy; D011256:Pregnancy Outcome; D011859:Radiography; D015996:Survival Rate; D013909:Thorax / Q000000981:diagnostic imaging / Q000196:embryology; D016216:Ultrasonography, Prenatal