Genetic autopsy and genetic counseling for a case of fatal oligohydramnios due to de novo 17q12 deletion syndrome
Genetic autopsy and genetic counseling for a case of fatal oligohydramnios due to de novo 17q12 deletion syndrome
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一例17q12新生缺失综合征致死性羊水过少病例的遗传尸检和遗传咨询
DOI：
10.1111/jog.15634
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发表时间：
2023
影响因子：
1.6
通讯作者：
Funakoshi Toru
中科院分区：
文献类型：
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作者：
Hiromoto Kana;Morisada Naoya;Tairaku Shinya;Nozu Kandai;Iijima Kazumoto;Funakoshi Toru
我们在此报告一例致命的羊水过少病例，最初怀疑是由于常染色体隐性多囊肾病，但在死产后使用绒毛膜组织和脐带进行遗传分析，导致诊断为17q12缺失综合征。随后对父母的遗传分析显示没有17q12缺失。在本例中，如果胎儿患有常染色体隐性遗传性多囊肾病，则怀疑下次妊娠的复发率为25%，但由于是新发的常染色体显性疾病，复发率极低。当检测到胎儿畸形时，基因解剖不仅有助于了解原因，而且还提供了复发率的信息。这些信息对下次怀孕很重要。在胎儿畸形导致的胎儿死亡或流产的情况下，基因解剖是有用的。
We report here a fatal oligohydramnios case, which was suspected due to autosomal recessive polycystic kidney disease at first, but genetic analysis using chorionic tissue and umbilical cord after stillbirth led to the diagnosis of 17q12 deletion syndrome. Subsequent genetic analysis of the parents showed no 17q12 deletion. In this case, if the fetus had autosomal recessive polycystic kidney disease, the recurrence rate in the next pregnancy was suspected to be 25%, but since it was a de novo autosomal dominant disorder, the recurrence rate is extremely low. When a fetal dysmorphic abnormality is detected, a genetic autopsy not only helps to understand the cause but also provides information about the recurrence rate. This information is important for the next pregnancy. A genetic autopsy is useful in cases of fetal deaths or abortions resulting from fetal dysmorphic abnormalities.