胎儿囊性水瘤的产前评估:一个意外发现的新生胎儿BRCA1缺失病例报告

IF 1.1 Q4 OBSTETRICS & GYNECOLOGY Reproductive medicine (Basel, Switzerland) Pub Date : 2023-10-23 DOI:10.3390/reprodmed4040022
Stephanie C. Laniewski, LauraAnne Hirschler, Anwar M. Iqbal, Neil S. Seligman
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引用次数: 0

摘要

本病例提出了一个新发生的新生BRCA1基因缺失的胎儿囊性水瘤。绒毛膜绒毛取样(CVS)进行染色体g带分析,核型正常:46,XX。染色体微阵列分析作为反射测试显示17q21.31有80 kb的缺失,包含BRCA1基因。对父母血液样本进行的后续FISH分析结果为阴性,证实胎儿的缺失是从头开始的。随后的解剖超声检查未发现可识别的结构缺陷,结论是微缺失不太可能是囊性水瘤的原因。无论如何,必须对患者的女儿进行适当的咨询,了解携带BRCA1基因缺失的影响以及成年后加强监测的必要性。由于BRCA1基因检测传统上是在知情同意的情况下对成年患者进行的,本病例报告强调了在常规产前检测中发现的意外胎儿诊断管理方面进行持续对话和研究的必要性,以及对这些患者及其家属的护理和咨询的必要性。
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Prenatal Evaluation of a Fetal Cystic Hygroma: An Unexpected Finding of a De Novo Fetal BRCA1 Deletion Case Report
This case presents a novel occurrence of a de novo BRCA1 gene deletion in a fetus with a cystic hygroma. Chorionic villus sampling (CVS) was performed for chromosome G-banding analysis, demonstrating a normal karyotype: 46, XX. Chromosome microarray analysis performed as a reflex test revealed an 80 kb deletion on 17q21.31, encompassing the BRCA1 gene. Follow-up FISH analysis performed on parental blood samples yielded negative results, confirming that the deletion was de novo in the fetus. Subsequent anatomic ultrasound evaluation showed no identifiable structural defects, and it was concluded that the microdeletion was unlikely to be the cause of the cystic hygroma. Regardless, it will be imperative that the patient’s daughter be appropriately counseled regarding the implications of carrying a BRCA1 deletion and the need for heightened surveillance in adulthood. As BRCA1 genetic testing is traditionally performed on adult patients with informed consent, this case report highlights the need for ongoing conversations and research in the management of incidental fetal diagnosis discovered during routine prenatal testing, as well as the care and counseling of these patients and their families.
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