Philip Nicole
Département de Génétique Médicale, Hôpital d'Enfants de la Timone, 13385 Marseille Cedex 5, France.
Childs Nerv Syst. 2003 Aug;19(7-8):436-9. doi: 10.1007/s00381-003-0779-0. Epub 2003 Jun 14.
Cerebral malformations can be genetically determined and/or part of complex syndromes. When the defect is detected during pregnancy, it important to rule out an associated genetic condition. Family history and detailed examination of fetal anatomy are needed.
Intrauterine growth retardation, as well as limb abnormalities (especially polydactyly) are strong indicators of a genetic condition in the context of a fetal cerebral malformation. A standard chromosomal analysis is needed in all cases. Fluorescent in situ hybridization (FISH) techniques using locus-specific probes that permit the detection of subtle chromosomal rearrangements and metabolic analyses may be indicated when a specific condition is suspected. As for molecular analyses, they have so far been mainly applicable to pregnancies at risk of a known disorder because of family history. The diagnosis consists of determining whether the fetus has inherited the causative mutation identified in the index case. When termination of pregnancy is elicited, a careful prenatal and postnatal examination is needed in order to give accurate genetic counseling for further pregnancies. Storage of fetal material allowing further molecular analyses is strongly recommended.
脑畸形可能由基因决定和/或为复杂综合征的一部分。当在孕期检测到缺陷时，排除相关的遗传疾病很重要。需要了解家族史并对胎儿解剖结构进行详细检查。
宫内生长迟缓以及肢体异常（尤其是多指畸形）是胎儿脑畸形情况下遗传疾病的有力指标。所有病例均需进行标准染色体分析。当怀疑有特定疾病时，可能需要使用允许检测细微染色体重排的位点特异性探针的荧光原位杂交（FISH）技术和代谢分析。至于分子分析，到目前为止，它们主要适用于因家族史而有已知疾病风险的妊娠。诊断包括确定胎儿是否继承了索引病例中鉴定出的致病突变。当引发终止妊娠时，需要进行仔细的产前和产后检查，以便为未来的妊娠提供准确的遗传咨询。强烈建议保存胎儿材料以便进行进一步的分子分析。
