先天性皮肤发育不全单基因疾病胚胎植入前基因检测成功案例。
A successful case of preimplantation genetic testing for monogenic disorder for aplasia cutis congenita.
作者信息
Yang Xiu-Fang, Shi Shang-Wen, Ye Yun, Chen Kang
机构信息
Department of Neonatology, Zhongshan Hospital Affiliated to Sun Yat-Sen University, Zhongshan, China.
Reproductive Medicine Center, Zhongshan Hospital Affiliated to Sun Yat-Sen University, Zhongshan, China.
出版信息
Front Pediatr. 2022 Nov 15;10:1005272. doi: 10.3389/fped.2022.1005272. eCollection 2022.
BACKGROUND
Aplasia cutis congenita (ACC), also called congenital cutaneous hypoplasia, is a serious disease in newborns. Children with ACC often die due to wound infections and bleeding. How the incidence of ACC can be reduced is a question that needs to be solved urgently.
CASE REPORT
We reported a mother who had delivered two children with ACC, both of whom were diagnosed with ACC type VI, skin defects, limb deformities, and congenital heart malformations. One infant died a few days after birth, and another died in the second trimester. Genetic testing in both children showed a heterozygous mutation in the gene [17q25 exon 8, c. 794 dupC, (. Ala266fs) and exon 15, c. 1860G > A]. The mother later successfully gave birth to a healthy baby using Preimplantation Genetic Testing for Monogenic disorders(PGD-M).
CONCLUSION
The PGD-M technique is highly valuable in reducing the incidence of ACC and improving the prognoses of newborns.
背景
先天性皮肤发育不全（ACC），也称为先天性皮肤发育不良，是新生儿中的一种严重疾病。患有ACC的儿童常因伤口感染和出血而死亡。如何降低ACC的发病率是一个亟待解决的问题。
病例报告
我们报告了一位母亲，她生下了两个患有ACC的孩子，这两个孩子均被诊断为VI型ACC，伴有皮肤缺损、肢体畸形和先天性心脏畸形。一名婴儿出生几天后死亡，另一名在孕中期死亡。对两个孩子的基因检测显示该基因存在杂合突变[17q25外显子8，c. 794 dupC，（. Ala266fs）和外显子15，c. 1860G > A]。这位母亲后来通过单基因疾病胚胎植入前基因检测（PGD-M）成功生下了一个健康的婴儿。
结论
PGD-M技术在降低ACC的发病率和改善新生儿预后方面具有很高的价值。
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