Publications by authors named "Brandy Firman"
Article Synopsis
- Alkuraya-Kučinskas syndrome (AKS) is a rare genetic disorder caused by mutations in the BLTP1 gene, leading to various serious developmental issues such as brain malformations, joint contractures, and clubfeet.
- A case study highlights two new mutations associated with AKS, showcasing severe anomalies in a fetus, including hydrops and brainstem kink, alongside a literature review of 19 other cases that provides insights into common prenatal features.
- The review indicates that many AKS cases present significant symptoms like joint contractures, brain issues, and facial abnormalities, stressing the importance of genetic testing for diagnosis when such features are observed in a fetus.
Objective: To describe the maternal outcomes of a prospective cohort of non-immune hydrops fetalis (NIHF) pregnancies with negative standard-of-care evaluations.
Methods: This study was a secondary analysis of a prospective cohort study of NIHF pregnancies with negative work-ups (infection, alloimmune anemia, fetomaternal hemorrhage, and chromosomal disorders). Outcomes were obstetric complications, including pre-eclampsia, mirror syndrome, preterm birth, polyhydramnios, postpartum hemorrhage, and maternal mental health.
Article Synopsis
- Nonimmune hydrops fetalis (NIHF) is a serious condition where fluid accumulates in a fetus due to various genetic and non-genetic causes, and the study aimed to improve diagnostic outcomes using prenatal exome sequencing after standard tests returned negative results.
- Researchers in the HYDROPS study performed exome sequencing on fetal samples and parental blood, finding that 50% of the cases yielded diagnostic results, while about 22.7% had possible diagnoses.
- The study concluded that exome sequencing is a valuable tool in identifying the causes of NIHF, which can inform prognosis and future pregnancy risks, highlighting its importance in clinical practices after standard evaluations.
Background: Cervical dilation and changes in cervical dilation inform the management of labor, including decisions to admit a patient to the hospital, augment labor, or perform a cesarean delivery. Practitioners routinely measure cervical dilation subjectively using 2 fingers on manual examination; however, agreement of ≤1 cm between 2 observers has been reported as 60% to 91% previously in laboring women.
Objective: To evaluate the agreement among different providers' examinations using DilaCheck (interexaminer agreement) compared with interexaminer agreement between 2 manual examinations for cervical dilation of women in labor.