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Perinatal lethal hypophosphatasia (p-HPP) is a lethal subtype of hypophosphatasia that prioritizes an early detection for appropriate treatment plan. Residual activity of alkaline phosphatase, owing to loss-of-function mutation of ALPL gene, accounts for degree of severity in phenotypes. We present a case of p-HPP in a Chinese couple’s fetus diagnosed at 18 weeks of gestation. Sonographic evaluation revealed a fetus with shortened and deformed limbs and hypoechogenic skull and vertebrae. After p-HPP was clinically diagnosed, the parents opted for medical termination of pregnancy. Further molecular investigation using next generation sequencing revealed the fetus to harbor a compound heterozygous mutation c935_943delTGGTGGTGG (pV313delVVV) and c406C>T (pR136C) in the ALPL gene. The mutation c935_943delTGGTGGTGG (pV313delVVV), of paternal origin, is to the best of our knowledge a novel mutation not reported before. This case demonstrates the importance of ultrasonography and molecular genetic testing in prenatal diagnosis.

journal of radiology and clinical imaging

Ultrasound Diagnosis of Perinatal Lethal Hypophosphatasia, Confirmed with Targeted Next Generation Sequencing and Identification of a Novel Mutation in ALPL Gene