Nayak Shalini S, Shukla Anju, Lewis Leslie, Kadavigere Rajagopal, Mathew Mary, Adiga Prashanth K, Vasudeva Akhila, Kumar Pratap, Shetty Jyothi, Shah Hitesh, Girisha Katta M
Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, India.
Prenat Diagn. 2015 Jul;35(7):685-91. doi: 10.1002/pd.4592. Epub 2015 Apr 5.
We aimed to analyze the utility of fetal autopsy in terms of its contribution to establishing a definitive diagnosis and its impact on genetic counseling.
Detailed fetal autopsy was carried out in fetuses referred for examination. Clinical utility of fetal autopsy and its impact on counseling were measured by adapting previously published parameters.
We performed autopsy in 230 fetuses. There were 106 cases with single system and 92 cases with multisystem involvement. We confirmed prenatal findings in 23% of cases and observed additional findings in 37% of cases. In 23% of cases, autopsy findings differed enough to change the diagnosis. However, in 17% of fetuses, no cause of fetal loss was determined. Risk of recurrence became clear in 30.3% of the fetuses, and risk remained the same, but the diagnosis was different in 4.8% of cases after autopsy. Hence, autopsy led to refinement of the risk of recurrence in 36% of cases. Autopsy aided prenatal counseling of couples in 77% of cases by either confirming the prenatal findings (35%) or providing new information/ruling out a diagnosis (42%).
The present study quantifies the utility of fetal autopsy in reproductive genetic counseling in a large cohort.
我们旨在分析胎儿尸检在明确诊断方面的作用及其对遗传咨询的影响。
对送检胎儿进行详细的胎儿尸检。通过采用先前公布的参数来衡量胎儿尸检的临床实用性及其对咨询的影响。
我们对230例胎儿进行了尸检。其中单系统受累106例，多系统受累92例。我们在23%的病例中证实了产前检查结果，在37%的病例中发现了其他结果。在23%的病例中，尸检结果差异足以改变诊断。然而，在17%的胎儿中，未确定胎儿丢失的原因。30.3%的胎儿复发风险变得明确，4.8%的病例尸检后复发风险不变但诊断不同。因此，尸检使36%的病例复发风险得以细化。在77%的病例中，尸检通过确认产前检查结果（35%）或提供新信息/排除诊断（42%）帮助夫妇进行产前咨询。
本研究对大量队列中胎儿尸检在生殖遗传咨询中的实用性进行了量化。
