AUTHOR=Yang Xiu-Fang , Shi Shang-Wen , Ye Yun , Chen Kang 

TITLE=A successful case of preimplantation genetic testing for monogenic disorder for aplasia cutis congenita

JOURNAL=Frontiers in Pediatrics

VOLUME=Volume 10 - 2022

YEAR=2022

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2022.1005272

DOI=10.3389/fped.2022.1005272

ISSN=2296-2360

ABSTRACT=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 utero in the second trimester. Genetic testing in both children showed a heterozygous mutation in the ITGB4 gene [17q25 exon 8, c.794dupC, (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).
Conclusion
The PGD-M technique is highly valuable in reducing the incidence of ACC and improving the prognoses of newborns.