Walpole I R, Phillips J, Pemberton P J, Bower C, Goldblatt J
Princess Margaret Hospital for Children, Perth, WA.
Med J Aust. 1993 Oct 4;159(7):441-4. doi: 10.5694/j.1326-5377.1993.tb137960.x.
To ascertain babies born with spina bifida that was not detected by prenatal ultrasound examination performed after 16 weeks' gestational age at Western Australian referral centres, 1990-1991.
A retrospective study of the antenatal ultrasound details of those infants born with spina bifida in Western Australia during the 24-month period, 1990 and 1991. Data were collected by interviewing parents, clinically assessing affected individuals and reviewing genetic, clinical and investigative records, and from the Birth Defects Registry of Western Australia.
Western Australia, which has a relatively high spina bifida birth prevalence of 1 in 1000, has centralised neonatal medical, surgical and genetic services, and a Birth Defects Registry. This enabled us to ascertain all Western Australian neonates with spina bifida for the purposes of this study. There is no universal maternal serum alpha-fetoprotein (MSAFP) screening program and the performance of ultrasonography at referral level is of variable quality.
Newborns with spina bifida and their parents.
Ultrasound screening for spina bifida was deemed to have failed when referral to a specialist imaging centre for the specific purpose of detecting anatomical abnormality after 16 weeks' gestational age gave a falsely negative result.
Of the 47 infants born with spina bifida in 1990 and 1991, ultrasound screening at more than 16 weeks' gestational age was documented and was falsely negative in 14. Six of the 14 had a relevant family or medical history for the condition. Five of the lesions were covered and eight of the patients still survive.
Ad-hoc fetal ultrasound examination via existing referral centres had obvious limitations in detecting spina bifida in a population at low risk. MSAFP screening has a well documented role in detecting neural tube defects, as eight to 10 of the 14 lesions missed by the referral ultrasonography would have been ascertained in a program of this nature. The study indicated that adequate pre-screening clinical histories were not sought, thus limiting the antenatal testing options offered to at-risk couples. This study emphasised the importance of a statewide review of the specificity and sensitivity of the anatomical fetal ultrasound examination, in view of the expansion of this procedure and its variable quality depending on operator experience and equipment quality.
确定1990 - 1991年在西澳大利亚转诊中心出生的患有脊柱裂但在孕16周后进行的产前超声检查中未被检测出的婴儿。
对1990年和1991年这24个月期间在西澳大利亚出生的患有脊柱裂的婴儿的产前超声详细资料进行回顾性研究。通过与父母面谈、对受影响个体进行临床评估以及查阅遗传、临床和检查记录，并从西澳大利亚出生缺陷登记处收集数据。
西澳大利亚脊柱裂的出生患病率相对较高，为千分之一，拥有集中的新生儿医疗、外科和遗传服务以及一个出生缺陷登记处。这使我们能够为本研究确定所有患有脊柱裂的西澳大利亚新生儿。这里没有普遍的母血清甲胎蛋白（MSAFP）筛查项目，且转诊层面超声检查的质量参差不齐。
患有脊柱裂的新生儿及其父母。
当孕16周后为检测解剖学异常而转诊至专科影像中心时得出假阴性结果，脊柱裂的超声筛查即被视为失败。
在1990年和1991年出生的47例患有脊柱裂的婴儿中，有孕16周以上超声筛查记录，其中14例结果为假阴性。这14例中有6例有该病的相关家族史或病史。5处病变有皮肤覆盖，8例患者仍存活。
通过现有转诊中心进行的临时胎儿超声检查在检测低风险人群中的脊柱裂方面有明显局限性。MSAFP筛查在检测神经管缺陷方面有充分记录的作用，因为在这种性质的项目中，转诊超声检查遗漏的14处病变中有8至10处可通过该筛查得以确定。研究表明未获取充分的筛查前临床病史，从而限制了为有风险夫妇提供的产前检测选择。鉴于该检查的扩展及其因操作者经验和设备质量而异的质量，本研究强调了对胎儿解剖学超声检查的特异性和敏感性进行全州范围审查的重要性。
