title: Prenatally Diagnosed Hemophilia in a Newborn: a Case Report.
abstract: Hemophilia is the most common inherited coagulation disorder, and approximately one-half of patients are diagnosed as newborns. For prenatal diagnosis of hemophilia A, genetic tests are performed using chorionic villi (biopsy PCR chorionic villi sampling [CVS]) at 10 weeks' of gestation. The result in this fetus demonstrated an inversion within intron 1 in part for hemophilia A. This male infant, who was his parents' first offspring, was born after an uneventful pregnancy. An uncle suffered from hemophilia A. This report describes a newborn who was prenatally diagnosed with hemophilia A. The timely diagnosis of hemophilia in a newborn enabled the provision of adequate therapy, which led to a favorable outcome.
authors.affiliation: Clinic for Ginecology and Obstretics, Clinical Centre of Serbia, Department Neonatology , Belgrade , Serbia.
authors.forename: Miljana Zivojin
authors.initials: MZ
authors.lastname: Jovandaric
authors.forename: Milos M
authors.initials: MM
authors.lastname: Jesic
mesh_terms: D015193:Chorionic Villi Sampling; D005865:Gestational Age; D006467:Hemophilia A / Q000150:complications / Q000175:diagnosis / Q000196:embryology* / Q000453:epidemiology; D006470:Hemorrhage / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000196:embryology / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D007438:Introns / Q000235:genetics; D008297:Male; D057345:Sequence Inversion; D016216:Ultrasonography, Prenatal; D014812:Vitamin K / Q000627:therapeutic use
chemical_list: D014812:Vitamin K
keywords: coagulation disorder; hemophilia A; newborn