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A successful case of preimplantation genetic testing for monogenic disorder for aplasia cutis congenita
oleh: Xiu-Fang Yang, Shang-Wen Shi, Yun Ye, Kang Chen
Format: | Article |
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Diterbitkan: | Frontiers Media S.A. 2022-11-01 |
Deskripsi
BackgroundAplasia 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 reportWe 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 utero in the second trimester. Genetic testing in both children showed a heterozygous mutation in the ITGB4 gene [17q25 exon 8, c. 794 dupC, (p. 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).ConclusionThe PGD-M technique is highly valuable in reducing the incidence of ACC and improving the prognoses of newborns.