Ingerslev H J, Hindkjaer J, Jespersgaard C, Lind M P, Kølvraa S
Center for Praeimplantationsdiagnostik ved Arhus Universitetshospital, Arhus Universitetshospital, Skejby Sygehus, Fertilitetsklinikken.
Ugeskr Laeger. 2001 Oct 1;163(40):5525-8.
Preimplantation genetic diagnosis (PGD) is a possible alternative to prenatal diagnosis, whereby families with serious inherited diseases can avoid having children with the disease. The genetic diagnosis is performed on embryos before implantation and therefore implies IVF. Hence, PGD offers the possibility of transferring embryos without disease, thereby avoiding termination of pregnancy owing to an affected fetus.
Activities at the Centre for Preimplantation Genetic Diagnosis at Aarhus University Hospital since its opening in February 1999 are described. The fluorescent in situ hybridisation (FISH) technique was used for sex selection (hemophilia A and Duchenne's muscular dystrophy) and translocations. The polymerase chain reaction (PCR) was used for cystic fibrosis.
Of 20 PGD cycles started, 15 were successful in terms of transference of healthy or carrier embryos. A positive pregnancy test was found after six of 15 embryo transfers (40%) with two subsequent clinical pregnancies.
The present pregnancy rates with PGD are comparable to those following IVF; the clinical pregnancy rate may seem low, but the cycle numbers are small. Preimplantation genetic diagnosis seems to be a realistic alternative for selected genetic diseases, in cases where the couple find abortion unacceptable.
植入前基因诊断（PGD）是产前诊断的一种可能替代方法，通过这种方法，患有严重遗传性疾病的家庭可以避免生育患有该疾病的孩子。基因诊断在胚胎植入前进行，因此意味着体外受精（IVF）。因此，PGD提供了移植无疾病胚胎的可能性，从而避免因胎儿患病而终止妊娠。
描述了奥胡斯大学医院植入前基因诊断中心自1999年2月开业以来的活动。荧光原位杂交（FISH）技术用于性别选择（甲型血友病和杜氏肌营养不良症）和易位检测。聚合酶链反应（PCR）用于囊性纤维化检测。
在开始的20个PGD周期中，有15个在移植健康或携带疾病基因的胚胎方面取得成功。15次胚胎移植中有6次（40%）妊娠试验呈阳性，随后有2例临床妊娠。
目前PGD的妊娠率与IVF后的妊娠率相当；临床妊娠率可能看起来较低，但周期数较少。对于选定的遗传性疾病，在夫妇认为堕胎不可接受的情况下，植入前基因诊断似乎是一种现实的替代方法。
