Hersh J H, Angle B, Pietrantoni M, Cook V D, Spinnato J A, Clark A L, Kurtzman J T, Bendon R W, Gerassimides A
Child Evaluation Center, Department of Pediatrics, University of Louisville, KY 40202-3828, USA.
South Med J. 1998 Dec;91(12):1137-42. doi: 10.1097/00007611-199812000-00008.
Certain ultrasonographic findings identified in a fetus suspected of having a skeletal dysplasia may be predictive of a lethal outcome.
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.
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.
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.
在疑似患有骨骼发育不良的胎儿中发现的某些超声检查结果可能预示着致命结局。
我们对27例疑似患有骨骼发育不良的胎儿在妊娠16至31周期间进行了针对性超声检查。分娩后进行了临床检查和骨骼X线摄影。
除1例病例外，其余所有病例均确诊为骨骼发育不良并确立了诊断。23例骨骼发育不良为致死性，且在每例中，结局均在产前得到准确预测；然而，有3例婴儿存活了数月。在23例中的11例（48%）中，在出生前正确确定了具体诊断。另外2例中，未被认为反映致命结局的超声检查结果被准确预测。还有2例中，超声检查提示为致死性骨软骨发育不良，但2例均存活。与致死性骨骼发育不良一致的表现包括股骨长度低于第1百分位数，同时伴有钟形胸廓、骨回声减低或两者皆有。使用这些标准，新生儿死亡的阳性预测值为80%（20/25），如果将3例婴儿期死亡病例包括在内则为92%（23/25）。
在疑似患有骨骼发育不良的胎儿中，针对性超声检查的某些结果常常可预示致命结局；当存在不止一种这些异常情况时，预测这种结局的能力似乎最强。
