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Prenatal diagnosis of familial neonatal hyperinsulinemia
Author(s) -
Aparicio L.,
Carpenter MW,
Schwartz R.,
Gruppuso PA
Publication year - 1993
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1993.tb18040.x
Subject(s) - hyperinsulinemia , medicine , amniotic fluid , neonatal hypoglycemia , hypoglycemia , pregnancy , hyperinsulinism , insulin , diazoxide , obstetrics , amniocentesis , endocrinology , fetus , prenatal diagnosis , gestation , pediatrics , gestational diabetes , insulin resistance , biology , genetics
A kindred with familial neonatal hyperinsulinemia is described. Infant A was macrosomatic and stillborn. Infant B was macrosomatic at birth following a pregnancy uncomplicated by maternal diabetes. Following diagnosis of hyperinsulinemic hypoglycemia, this patient was treated with oral diazoxide. Therapy continued until hyperinsulinemia resolved by two years of age. Based on this history, the pregnancy with infant C was intensively monitored using ultrasonography and amniocentesis. Insulin and C‐peptide concentrations in amniotic fluid were markedly increased compared to control pregnancies. Based on these results, infant C was delivered immediately upon obtaining evidence of lung maturation. Neonatal hyperinsulinemia was confirmed by a markedly increased cord plasma insulin concentration. Based on our experience, we recommend that insulin concentrations in amniotic fluid be used as an indicator of fetal hyperinsulinemia in kindreds with prior newborn hyperinsulincmic hypoglycemia. This information may be used to direct timing of delivery and therapy in the immediate postnatal period.