{"title":"胎儿小头畸形的遗传咨询。","authors":"Shu-Chin Chien, Chih-Ping Chen","doi":"10.4103/jmu.jmu_18_23","DOIUrl":null,"url":null,"abstract":"<p><p>Fetal microcephaly is a small head with various losses of cerebral cortical volume. The affected cases may suffer from a wide range in severity of impaired cerebral development from slight to severe mental retardation. It can be an isolated finding or with other anomalies depending on the heterogeneous causes including genetic mutations, chromosomal abnormalities, congenital infectious diseases, maternal alcohol consumption, and metabolic disorders during pregnancy. It is often a lifelong and incurable condition. Thus, early detection of fetal microcephaly and identification of the underlying causes are important for clinical staff to provide appropriate genetic counseling to the parents and accurate management.</p>","PeriodicalId":45466,"journal":{"name":"Journal of Medical Ultrasound","volume":null,"pages":null},"PeriodicalIF":0.9000,"publicationDate":"2024-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11040482/pdf/","citationCount":"0","resultStr":"{\"title\":\"Genetic Counseling of Fetal Microcephaly.\",\"authors\":\"Shu-Chin Chien, Chih-Ping Chen\",\"doi\":\"10.4103/jmu.jmu_18_23\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Fetal microcephaly is a small head with various losses of cerebral cortical volume. The affected cases may suffer from a wide range in severity of impaired cerebral development from slight to severe mental retardation. It can be an isolated finding or with other anomalies depending on the heterogeneous causes including genetic mutations, chromosomal abnormalities, congenital infectious diseases, maternal alcohol consumption, and metabolic disorders during pregnancy. It is often a lifelong and incurable condition. Thus, early detection of fetal microcephaly and identification of the underlying causes are important for clinical staff to provide appropriate genetic counseling to the parents and accurate management.</p>\",\"PeriodicalId\":45466,\"journal\":{\"name\":\"Journal of Medical Ultrasound\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2024-03-21\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11040482/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Medical Ultrasound\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/jmu.jmu_18_23\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Medical Ultrasound","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/jmu.jmu_18_23","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING","Score":null,"Total":0}
Fetal microcephaly is a small head with various losses of cerebral cortical volume. The affected cases may suffer from a wide range in severity of impaired cerebral development from slight to severe mental retardation. It can be an isolated finding or with other anomalies depending on the heterogeneous causes including genetic mutations, chromosomal abnormalities, congenital infectious diseases, maternal alcohol consumption, and metabolic disorders during pregnancy. It is often a lifelong and incurable condition. Thus, early detection of fetal microcephaly and identification of the underlying causes are important for clinical staff to provide appropriate genetic counseling to the parents and accurate management.
期刊介绍:
The Journal of Medical Ultrasound is the peer-reviewed publication of the Asian Federation of Societies for Ultrasound in Medicine and Biology, and the Chinese Taipei Society of Ultrasound in Medicine. Its aim is to promote clinical and scientific research in ultrasonography, and to serve as a channel of communication among sonologists, sonographers, and medical ultrasound physicians in the Asia-Pacific region and wider international community. The Journal invites original contributions relating to the clinical and laboratory investigations and applications of ultrasonography.