Yuichiro Takahashi1, Hideaki Sawai2, Jun Murotsuki3, Shuhei Satoh4, Takahiro Yamada5, Hiromi Hayakawa6, Yutaka Kouduma7, Masakatsu Sase8, Atsushi Watanabe9, Osamau Miyazaki10, Gen Nishimura11. 1. Department of Fetal-Maternal Medicine, Nagara Medical Center, Gifu, Japan. 2. Department of Obstetrics and Gynecology, Hyogo College of Medicine, Nishinomiya, Japan. 3. Department of Obstetrics, Miyagi Children's Hospital, Sendai, Japan. 4. Department of Obstetrics and Gynecology, Elm Josei Clinic, Aomori, Japan. 5. Department of Obstetrics and Gynecology, Hokkaido University, Sapporo, Japan. 6. Department of Obstetrics and Gynecology, Aichi Children's Health and Medical Center, Aichi, Japan. 7. Department of Obstetrics and Gynecology, Kurume University School of Medicine, Fukuoka, Japan. 8. Department of Obstetrics and Gynecology, Yamaguchi Grand Medical Center, Yamaguchi, Japan. 9. Division of Clinical Genetics, Nippon Medical School Hospital, Tokyo, Japan. 10. Department of Radiology, National Center for Child Health and Development, Tokyo, Japan. 11. Department of Radiology, Tokyo Metropolitan Kiyose Children's Hospital, Tokyo, Japan.
Abstract
OBJECTIVE: The objective of this study is to clarify the usefulness of parental alkaline phosphatase (ALP) for prenatal diagnosis of hypophosphatasia (HPP). METHODS: Maternal (m) and paternal (p) ALP values were measured in 77 cases from a multicenter cohort (fetal skeletal dysplasia forum in Japan) of cases with short limbs on ultrasonography during pregnancy. After birth, X-rays, cord blood ALP, and gene analysis were evaluated to achieve an exact diagnosis. The screening usefulness of ALP was examined retrospectively. RESULTS: Seventeen cases were eventually diagnosed as HPP and 60 as not HPP; the overall mean m-ALP and p-ALP (standard deviation) values were 133.4 (53) versus 197 (69) IU/L and 149.6 (71.8) versus 231 (61.4) IU/L (p < 0.001). Receiver operating characteristic curve analysis showed that the optimal m-ALP and p-ALP cutoff values were 123 and 165 IU/L, respectively. Presence of at least one of the m-ALP or p-ALP values abnormally low had a sensitivity, specificity, and positive predictive values of 82% (14/17), 93%, and 78%, respectively, for the diagnosis of HPP. CONCLUSION: Parental ALP measurement might be an auxiliary tool to hone in the prenatal diagnosis of fetal HPP.
OBJECTIVE: The objective of this study is to clarify the usefulness of parental alkaline phosphatase (ALP) for prenatal diagnosis of hypophosphatasia (HPP). METHODS: Maternal (m) and paternal (p) ALP values were measured in 77 cases from a multicenter cohort (fetal skeletal dysplasia forum in Japan) of cases with short limbs on ultrasonography during pregnancy. After birth, X-rays, cord blood ALP, and gene analysis were evaluated to achieve an exact diagnosis. The screening usefulness of ALP was examined retrospectively. RESULTS: Seventeen cases were eventually diagnosed as HPP and 60 as not HPP; the overall mean m-ALP and p-ALP (standard deviation) values were 133.4 (53) versus 197 (69) IU/L and 149.6 (71.8) versus 231 (61.4) IU/L (p < 0.001). Receiver operating characteristic curve analysis showed that the optimal m-ALP and p-ALP cutoff values were 123 and 165 IU/L, respectively. Presence of at least one of the m-ALP or p-ALP values abnormally low had a sensitivity, specificity, and positive predictive values of 82% (14/17), 93%, and 78%, respectively, for the diagnosis of HPP. CONCLUSION: Parental ALP measurement might be an auxiliary tool to hone in the prenatal diagnosis of fetal HPP.
Authors: Laura Castells; Pía Cassanello; Felix Muñiz; María-José de Castro; María L Couce Journal: Medicine (Baltimore) Date: 2018-11 Impact factor: 1.817