DiMaio M S, Barth R, Koprivnikar K E, Sussman B L, Copel J A, Mahoney M J, Byers P H, Cohn D H
Department of Genetics and Obstetrics and Gynecology, Yale University School of Medicine, New Haven, CT 06510.
Prenat Diagn. 1993 Jul;13(7):589-96. doi: 10.1002/pd.1970130709.
Osteogenesis imperfecta type II was diagnosed prenatally by analysis of DNA obtained from chorionic villus sampling (CVS) performed at 12 weeks of gestation in a woman who previously had had an affected child. The father had been shown to be mosaic for a mutation in the gene (COL1A2) which encodes the alpha 2(I) chain of type I collagen. An affected fetus was predicted by detection of the mutation in amplified chorionic villus genomic DNA. Ultrasound examination at 13 weeks 4 days demonstrated femoral deformity and virtual absence of calvarial mineralization. In pregnancies at risk for osteogenesis imperfecta type II, sonographic evidence of skeletal abnormalities may be evident by 13 weeks' gestation.
II型成骨不全症在产前被诊断出来，是通过对一名曾有过患病孩子的女性在妊娠12周时进行绒毛取样（CVS）获得的DNA进行分析。已证实父亲是编码I型胶原蛋白α2（I）链的基因（COL1A2）发生突变的嵌合体。通过检测扩增的绒毛基因组DNA中的突变预测出一个患病胎儿。妊娠13周4天时的超声检查显示股骨畸形且颅骨几乎没有矿化。在有II型成骨不全症风险的妊娠中，妊娠13周时骨骼异常的超声证据可能就很明显。
