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Updated: Aug 19, 2025
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
A successful case of preimplantation genetic testing for monogenic disorder for aplasia cutis congenita
Xiu-Fang Yang1, Shang-Wen Shi1, Yun Ye2
1Department of Neonatology, Zhongshan Hospital Affiliated to Sun Yat-Sen University, Zhongshan, China.
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. 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).
Conclusion:
The PGD-M technique is highly valuable in reducing the incidence of ACC and improving the prognoses of newborns.
