Løssl Kristina, Bentzen Jane Gasseholm, Petersen Morten Rønn, Roos Laura Sønderberg, Kjartansdóttir Kristín Rós, Grøndahl Marie Louise, Troest Bettina, Toft Christian Liebst Frisk, Pedersen Inge Søkilde, Diemer Tue, Ingerslev Hans Jakob
Ugeskr Laeger. 2021 Nov 29;183(48).
Preimplantation genetic testing (PGT) for known familial monogenetic disease (PGT-M) or structural chromosomal rearrangements (PGT-SR) has evolved into a well-established alternative to prenatal diagnosis. PGT significantly reduces the risk of a pregnancy with an affected foetus. Screening for aneuploidy (PGT-A) used as an add-on to standard IVF treatment of infertile couples is widely used internationally, although its benefit is highly debated. PGT combines genetic counselling and testing with assisted reproductive technology including ovarian stimulation, egg retrieval, and embryo biopsy, as discussed in this review.
针对已知家族性单基因疾病(PGT-M)或结构性染色体重排(PGT-SR)的植入前基因检测已发展成为一种成熟的产前诊断替代方法。PGT显著降低了怀有患病胎儿的妊娠风险。作为不孕夫妇标准体外受精治疗附加手段的非整倍体筛查(PGT-A)在国际上广泛应用,尽管其益处备受争议。如本综述所述,PGT将遗传咨询和检测与辅助生殖技术相结合,包括卵巢刺激、取卵和胚胎活检。