Rasmussen S A, Bieber F R, Benacerraf B R, Lachman R S, Rimoin D L, Holmes L B
Children's Service, Massachusetts General Hospital, Boston, USA.
Am J Med Genet. 1996 Jan 2;61(1):49-58. doi: 10.1002/(SICI)1096-8628(19960102)61:1<49::AID-AJMG10>3.0.CO;2-W.
The osteochondrodysplasias (skeletal dysplasias) are a heterogeneous group of disorders characterized by abnormalities in cartilage and bone growth and development. Some of these disorders are detectable during the second trimester by sonographic techniques. We ascertained cases of osteochondrodysplasias in elective pregnancy terminations, stillborn infants older than 20 gestational weeks, and liveborn infants diagnosed by the fifth day of life as part of an ongoing active malformation surveillance program. Forty-nine cases of osteochondrodysplasias were identified among approximately 126,000 deliveries at Brigham and Women's Hospital (BWH) during a 15-year period (Feb. 16, 1972-Feb. 15, 1975; Jan. 1, 1979-Dec. 31, 1990). When cases delivered to women who had planned to deliver at another hospital but were transferred for high-risk care (transfers) were excluded, the prevalence rate was 2.14 cases per 10,000 deliveries. During the early period (1972-1975) no cases were suspected prenatally, while during the 1988-1990 period, 80% of all cases and 57% of cases delivered to women who had always planned to deliver at BWH (non-transfers) were suspected by ultrasonography. Birth status changed through our period of surveillance. In the final 3-year period (1988-1990), 40% of all cases and 29% of non-transfers with osteochondrodysplasias were pregnancy terminations, compared to none during the 1972-1975 period. The increasing frequency of pregnancy terminations complicated the diagnosis of these conditions. Despite extensive evaluation, a definitive diagnosis was not possible in 8 of 49 cases (16%). Biochemical and molecular genetic methods of diagnosis will continue to become more important if the current trend of wide utilization of prenatal sonography and termination of affected pregnancies continues.
骨软骨发育异常（骨骼发育异常）是一组异质性疾病，其特征为软骨和骨骼生长发育异常。其中一些疾病在孕中期可通过超声技术检测出来。作为一项正在进行的主动畸形监测项目的一部分，我们在选择性妊娠终止、孕龄超过20周的死产儿以及出生后5天内确诊的活产儿中确定了骨软骨发育异常病例。在15年期间（1972年2月16日至1975年2月15日；1979年1月1日至1990年12月31日），在布里格姆妇女医院（BWH）约126,000例分娩中，共发现49例骨软骨发育异常病例。若排除那些计划在其他医院分娩但因高危护理而转至本院的产妇所分娩的病例（转院病例），患病率为每10,000例分娩中有2.14例。在早期（1972 - 1975年），产前未怀疑有任何病例，而在1988 - 1990年期间，所有病例中有80%以及计划一直在BWH分娩的产妇（非转院病例）所分娩病例中有57%通过超声检查被怀疑。在我们的监测期间，出生状态发生了变化。在最后3年期间（1988 - 1990年），所有骨软骨发育异常病例中有40%以及非转院病例中有29%为妊娠终止，而在1972 - 1975年期间则无此类情况。妊娠终止频率的增加使这些疾病的诊断变得复杂。尽管进行了广泛评估，但49例病例中有8例（16%）仍无法做出明确诊断。如果目前广泛使用产前超声检查和终止受影响妊娠的趋势继续下去，生化和分子遗传学诊断方法将继续变得更加重要。
