Prenatal Diagnosis of Fetal Goitrous Hypothyroidism in a Euthyroid Mother: A Management Challenge

Although rare, congenital hypothyroidism with a goiter can jeopardize fetal and neonatal outcomes. Prenatal invasive procedures may decrease perinatal morbidity, but indications are still controversial. We report a case of fetal goitrous hypothyroidism diagnosed at 22 weeks' gestation in an euthyroid mother. Cordocentesis confirmed fetal hypothyroidism, and intra-amniotic injections of l-thyroxine led to normalization of the size of the thyroid. The patient gave birth by vaginal delivery to a neonate with no palpable goiter or clinical sign of hypothyroidism. We discuss the issues of the prenatal management of these situations in light of a literature review and our own observations.