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Parental serum alkaline phosphatase activity as an auxiliary tool for prenatal diagnosis of hypophosphatasia
Author(s) -
Takahashi Yuichiro,
Sawai Hideaki,
Murotsuki Jun,
Satoh Shuhei,
Yamada Takahiro,
Hayakawa Hiromi,
Kouduma Yutaka,
Sase Masakatsu,
Watanabe Atsushi,
Miyazaki Osamau,
Nishimura Gen
Publication year - 2017
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5040
Subject(s) - hypophosphatasia , alkaline phosphatase , prenatal diagnosis , medicine , dysplasia , fetus , receiver operating characteristic , pregnancy , obstetrics , gastroenterology , gynecology , chemistry , biology , enzyme , biochemistry , genetics
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. © 2017 John Wiley & Sons, Ltd.