Parental serum alkaline phosphatase activity as an auxiliary tool for prenatal diagnosis of hypophosphatasia.
Prenat Diagn
; 37(5): 491-496, 2017 May.
Article
in En
| MEDLINE
| ID: mdl-28326564
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. © 2017 John Wiley & Sons, Ltd.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Parents
/
Prenatal Diagnosis
/
Alkaline Phosphatase
/
Hypophosphatasia
Type of study:
Diagnostic_studies
/
Etiology_studies
/
Evaluation_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Female
/
Humans
/
Male
/
Pregnancy
Language:
En
Journal:
Prenat Diagn
Year:
2017
Type:
Article
Affiliation country:
Japan