Ries L, Frydman M, Barkai G, Goldman B, Friedman E
Susanne Levy-Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Tel-Hashomer, 52621 Israel.
Prenat Diagn. 2000 Nov;20(11):876-80. doi: 10.1002/1097-0223(200011)20:11<876::aid-pd936>3.0.co;2-x.
Prenatal diagnosis was performed in a family where the father has osteogenesis imperfecta (OI) type I, with a novel mutation in the COL1A1 gene: a C to T change at position c3076 (c.3076C-->T) leading to a change of arginine at codon 848 to a stop codon (R848X). Prenatal diagnosis by chorionic villous sampling (CVS) was performed during the fourth pregnancy, and revealed that the fetus is a carrier of the same COL1A1 mutation. The possibility of phenotypic variability was discussed with the parents. They elected to carry the pregnancy to term, and a male child with mild OI was born. This is the first reported case where OI was diagnosed prenatally, and the parents opted to carry the pregnancy to term. It illustrates the potential use of DNA-based analysis for early prenatal diagnosis of OI, and the complexities of genetic counselling.
在一个家庭中进行了产前诊断，该家庭的父亲患有I型成骨不全症（OI），其COL1A1基因存在一种新的突变：第3076位的C到T变化（c.3076C→T），导致第848位密码子的精氨酸变为终止密码子（R848X）。在第四次怀孕时通过绒毛取样（CVS）进行了产前诊断，结果显示胎儿是相同COL1A1突变的携带者。与父母讨论了表型变异性的可能性。他们选择将妊娠持续至足月，随后一名患有轻度OI的男婴出生。这是第一例报道的通过产前诊断出OI且父母选择将妊娠持续至足月的病例。它说明了基于DNA的分析在OI早期产前诊断中的潜在用途，以及遗传咨询的复杂性。
