Perinatal palliative care for family with prenatal diagnosis of Matthew-Wood syndrome.

Abstract

Matthew-Wood syndrome (MWS) is a rare autosomal recessive disorder caused by pathogenic variants of the STRA6 gene. Several studies in the available literature comprise patients with pathogenic variants of gene STRA6 with various phenotypic expressions: from lethal forms of MWS to non-lethal anophthalmia. These reports mainly describe new pathogenic variants and phenotypic expression but do not describe medical or paramedical care for the affected families. In our case report, we describe the second case of MWS in the same family and the benefits of including the patient's family in the perinatal palliative care program. The first pregnancy was terminated with a cesarean section; the boy was intubated in the delivery room and died soon after. The mother was not allowed to say farewell or keep any remembrances of her child. In the second pregnancy, the family was involved in the perinatal palliative care program, and all paramedical aspects, crucial from the parent's perspective, were planned and implemented. Palliative perinatal care enables complex care for the pregnant woman and her family. The possibility of palliative perinatal care is significant in decision-making in families with a high risk of lethal disease in subsequent pregnancies.

• Authors: Aleksandra Korzeniewska-Eksterowicz, Hanna Moczulska
• Journal: Journal of genetic counseling (J Genet Couns) (Oct 04 2023) ISSN: 1573-3599 [Electronic] United States
• PMID: 37792875 (Publication Type: Case Reports)
• Copyright: © 2023 National Society of Genetic Counselors.