27. Báo cáo ca bệnh: Chẩn đoán trước sinh biến thể gen ALPL gây bệnh giảm phosphat máu ở thai nhi có bất thường hệ xương

Abstract

Hypophosphatasia caused by pathogenic mutations in the ALPL gene is a rare disease; only a few cases have been genetically diagnosed prenatally with skeletal abnormalities. Our study describes a 26-year-old woman's first pregnancy. Ultrasound at 17 weeks of pregnancy found small and angulated long bones, reduced bone density, and crooked feet. Amniotic samples are tested using exome sequencing (ES), and parental blood samples are tested using Sanger sequencing. The results revealed a likely pathogenic homozygous variant in the ALPL gene:c.707A>G (NM_000478.6) in the fetus. Both parents are heterozygous carriers of this variation and have a mild form of Hypophosphatasia. Fetuses with skeletal deformities should be concerned about recessively inherited hypophosphatasia related to the ALPL gene. We recommend to assess the genetic profile of the fetus with skeletal defects as well as the parent’s genetic status to pinpoint the root cause of the defects. Allows for a clear assessment of the recurrence risk in the future pregnancy, advising the family on appropriate prenatal diagnostic procedures.