Fassihi H, Eady R A J, Mellerio J E, Ashton G H S, Dopping-Hepenstal P J C, Denyer J E, Nicolaides K H, Rodeck C H, McGrath J A
Genetic Skin Disease Group, St. John's Institute of Dermatology, GKT Medical School, St. Thomas' Hospital, Kings' College London, London, UK.
Br J Dermatol. 2006 Jan;154(1):106-13. doi: 10.1111/j.1365-2133.2005.07012.x.
Over the last 25 years there have been major advances in methods for prenatal testing of inherited skin disorders. Since 1979, our group at the St John's Institute of Dermatology has performed 269 prenatal diagnoses, using a variety of approaches, including fetal skin biopsy (FSB), chorionic villus sampling (CVS) and preimplantation genetic diagnosis (PGD).
This study was designed to review the clinical indications, testing procedures and laboratory analyses for all prenatal tests conducted at St John's over this period.
FSBs were examined for morphological and, when relevant or feasible, immunohistochemical abnormalities. The DNA-based tests involved screening by nucleotide sequencing, restriction enzyme digests or, in a few cases, by linkage analysis. Results Of the 269 tests, 191 were FSB, 76 were CVS and two were PGD. The major indications for FSB were epidermolysis bullosa (EB) (138 cases, including 88 junctional and 48 dystrophic), ichthyoses (37 cases, including 22 tests for harlequin ichthyosis) and oculocutaneous albinism (12 cases). Of the CVS procedures, 75 were for EB (40 junctional, 35 dystrophic) and one was for the EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome. Both of the PGD procedures were for the skin fragility-ectodermal dysplasia syndrome. All tests provided accurate diagnoses and the fetal loss rate was approximately 1% for both FSB and CVS.
The development of prenatal testing has proved to be of great benefit for individuals or couples at risk of having children with severe inherited skin disorders and, in the absence of a cure, prenatal testing along with appropriate counselling has become an important translational benefit of basic research and an integral part of clinical management.
在过去25年中，遗传性皮肤病的产前检测方法取得了重大进展。自1979年以来，我们圣约翰皮肤病研究所的团队已采用多种方法进行了269例产前诊断，包括胎儿皮肤活检（FSB）、绒毛取样（CVS）和植入前基因诊断（PGD）。
本研究旨在回顾在此期间圣约翰医院进行的所有产前检测的临床指征、检测程序和实验室分析。
对胎儿皮肤活检样本进行形态学检查，并在相关或可行时进行免疫组化异常检查。基于DNA的检测包括通过核苷酸测序、限制性酶切消化进行筛查，少数情况下通过连锁分析进行筛查。结果在269例检测中，191例为胎儿皮肤活检，76例为绒毛取样，2例为植入前基因诊断。胎儿皮肤活检的主要指征为大疱性表皮松解症（EB）（138例，包括88例交界型和48例营养不良型）、鱼鳞病（37例，包括22例丑角鱼鳞病检测）和眼皮肤白化病（12例）。在绒毛取样检测中，75例为大疱性表皮松解症（40例交界型，35例营养不良型），1例为EEC（缺指畸形、外胚层发育不良、腭裂）综合征。两项植入前基因诊断检测均针对皮肤脆性-外胚层发育不良综合征。所有检测均提供了准确的诊断，胎儿皮肤活检和绒毛取样的胎儿丢失率约为1%。
产前检测的发展已证明对有生育严重遗传性皮肤病患儿风险的个人或夫妇具有极大益处，在无法治愈的情况下，产前检测以及适当的咨询已成为基础研究的一项重要转化成果和临床管理的一个组成部分。
