The Role of Prenatal Ultrasound and Added Value of Post-Mortem Radiographic Imaging With X-Ray and CT in Suspected Fetal Skeletal Dysplasia.

Objective: This study aims to assess the diagnostic value of post-mortem radiographic imaging compared with prenatal ultrasound in suspected fetal skeletal dysplasias in a large Finnish cohort.

Method: Prenatal ultrasound findings and their association with post-mortem radiographic imaging were evaluated in a cohort of 36 fetuses with prenatally suspected skeletal dysplasia.

Results: Prenatal ultrasound performed well in detecting skeletal dysplasias and severe forms of the disease.

Inflammatory rhabdomyoblastic tumor, pheochromocytoma, and pulmonary hamartoma in a patient with neurofibromatosis type 1: a case report.

Background: Inflammatory rhabdomyoblastic tumors are relatively recently recognized soft tissue tumors with a low malignant potential. Here, we present a case of concurrent inflammatory rhabdomyoblastic tumor (IRMT), adrenal pheochromocytoma, and pulmonary hamartoma in a patient with neurofibromatosis type 1 (NF1). To our knowledge, this is the first time that this constellation of tumors has been described in the literature.

Umbilical arterial lactate levels after normal vaginal and elective cesarean delivery: The role of a longer active second stage most significant in high levels after vaginal delivery.

Aim: To evaluate umbilical arterial lactate concentrations after spontaneous vaginal delivery and after elective Cesarean delivery, and to study the simultaneous effects of maternal and obstetric variables in high lactate levels in vaginally delivered healthy term singletons.

Methods: The birth register study included information about the umbilical artery lactate values and clinical perinatal data from 7723 women and their singleton newborns (7301 spontaneous vaginal and 422 elective cesareans) from Kuopio University Hospital, Finland. High lactate levels were evaluated more extensively among healthy term neonates (N = 6541), to evaluate high levels after normal vaginal labors.

Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort.

Objective: This retrospective cohort study aims to describe the genetic spectrum of fetal skeletal dysplasias detected in a Finnish patient cohort and the diagnostic yield of various analysis methods used.

Method: A total of 121 pregnancies with prenatally suspected or diagnosed skeletal dysplasia were analyzed between 2013 and 2020. Clinical details and findings from genetic testing were collected.