ABSTRACT
Objective:To explore the perinatal management of patients with WD during pregnancy, and to determine its genetic etiology and the possibility of fetal morbidity using the genetic detection of amniotic fluid and umbilical cord blood.Method:In terms of fine management during the perinatal period, a case of K-F ring was found in the Ophthalmology Department of Beijing Friendship Hospital, Capital Medical University in March 2019 due to eye astringency and eye swelling, and the hepatology department further diagnosed WD for one artificial abortion. After the second pregnancy in October 2020, multidisciplinary consultation and standardized treatment during pregnancy including gynecology and obstetrics, liver disease center, anesthesiology department, gastroenterology department and nutrition department were carried out. The genomes of patients' venous blood, amniotic fluid and umbilical cord blood were extracted and analyzed for ATP7B gene variation by Sanger sequencing.Result:Through multi-disciplinary collaborative management, the patient gave birth successfully in the case of pregnancy complicated with liver cirrhosis, portal hypertension, splenomegaly with hyperfunction, thrombocytopenia, anemia, esophageal and gastric varices and other complications. The phenotype of the newborn was normal, and the Apgar score was 10-10-10. Sequencing results showed that the patient had ATP7B p.Arg778Leu and p.Val890Met, which were missense heterozygous variants reported in the mutation database, and ACMG was classified as pathogenic variants. The results of amniotic fluid and umbilical cord blood showed that the fetus had only p.Arg778Leu single heterozygous variation, and it was predicted that there would be no clinical phenotype of WD.Conclusion:Perinatal multidisciplinary collaborative management has important protective significance for the successful pregnancy of patients with WD. Genetic screening of amniotic fluid and umbilical cord blood is conducive to early detection of fetal WD.
ABSTRACT
La infección perinatal más frecuente es causada por citomegalovirus (CMV), en el feto y el recién nacido esta infección es la principal causa de sordera y compromiso en el desarrollo psicomotor; el tamizaje, diagnóstico y manejo no se han protocolizado en el control prenatal. El pronóstico de estos pacientes dependerá de un manejo adecuado. Se presentan tres casos con el objetivo de revisar el diagnóstico prenatal y el manejo en el neonato. Materiales y métodos: se muestran tres casos de infección congénita por citomegalovirus diagnosticados en el Hospital Universitario Hernando Moncaleano de Neiva-Huila, centro de referencia de la región suroccidental de Colombia. Se realizó una búsqueda electrónica en las bases de datos de PudMed, Embase, Medline, Lilacs, Cochrane. Resultados: se encontraron 31 artículos, dos guías basadas en evidencia, seis revisiones sistemáticas, dos consensos de la Asociación Española de Pediatría, cuatro estudios de casos y controles, cuatro estudios de cohortes, doce revisiones narrativas, un estudio analítico de decisiones y de costos. Conclusión: el tamizaje rutinario para CMV en el control prenatal no está recomendado. Se debe hacer tamizaje en mujeres gestantes de alto riesgo. El método de tamizaje son la inmunoglobulina IgM específica y el test de avidez por IgG, si esta es baja confirma infección reciente. La prueba confirmatoria es la PCR para CMV. En recién nacidos la prueba de tamizaje es la PCR y el patrón de oro es el cultivo viral. En mujeres con infección gestacional se debe aplicar inmunoglobulina específica para protección fetal.
The most frequently occurring perinatal infection is caused by cytomegalovirus (CMV); this infection is the main cause of deafness and compromise during psychomotor development in the fetus and the newborn. Screening, diagnosis and management have not been protocolized in prenatal control. The prognosis for such patients will depend on their suitable management. Three cases are presented with the aim of reviewing prenatal diagnosis and newborn management. Materials and methods: Three cases of congenital CMV infection are presented; they were diagnosed at the Hernando Moncaleano teaching hospital in Neiva (Huila department) which is a reference centre for Colombias south-western region. A search was made of Medline/PudMed, Embase, Lilacs and the Cochrane library databases. Results: 31 articles were found: 2 evidence-based guidelines, 6 systematic reviews, 2 consensus opinions/guidelines from the Asociación Española de Pediatría, 4 case-control studies, 4 cohort studies, 12 narrative reviews and 1 analytical decisions and costs study. Conclusion: Routine screening for CMV during prenatal control is not recommended; screening should be done in high-risk pregnant females. Usual screening methods would include specific immunoglobulin IgM (ELISA) and the G (IgG) antibody avidity test. If such test is low, then this would confirm recent infection; the confirmatory test would be PCR for CMV. PCR is used as the screening test in the newborn and the gold standard would be viral culture. Specific immunoglobulin should be used for fetal protection in females suffering gestational infection.