胚胎植入前诊断简称PGD，是指在胚胎植入前通过分子生物学的技术选择不携带致病基因的胚胎植入宫腔，从而避免反复妊娠畸形儿，反复引产给患者带来的身心痛苦。主要用于致病基因明确的严重遗传病。我们团队对1例连续4次妊娠meckel 综合征的家庭进行了PGD ，现孩子已经3岁，非常健康可爱，随着分子诊断技术的快速发展，PGD已非高不可攀，正在走进临床。前提是致病基因明确。
　　PLoS One. 2013 Sep 5;8(9):e73245. doi: 10.1371/journal.pone.0073245. eCollection 2013.
　　Preimplantation genetic diagnosis for a Chinese family with autosomal recessive Meckel-Gruber syndrome type 3 (MKS3).
　　Lu Y1, Peng H, Jin Z, Cheng J, Wang S, Ma M, Lu Y, Han D, Yao Y, Li Y, Yuan H.
　　Author information1Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing, China.
　　AbstractMeckel-Gruber syndrome type 3 is an autosomal recessive genetic defect caused by mutations in TMEM67 gene. In our previous study, we have identified a homozygous TMEM67 mutation in a Chinese family exhibiting clinical characteristics of MKS3, which provided a ground for further PGD procedure. Here we report the development and the first clinical application of the PGD for this MKS3 family. Molecular analysis protocol for clinical PGD procedure was established using 50 single cells in pre-clinical set-up. After whole genomic amplification by multiple displacement amplification with the DNA from single cells, three techniques were applied simultaneously to increase the accuracy and reliability of genetic diagnosis in single blastomere, including real-time PCR with Taq Man-MGB probe, haplotype analysis with polymorphic STR markers and Sanger sequencing. In the clinical PGD cycle, nine embryos at cleavage-stage were biopsied and subjected to genetic diagnosis. Two embryos diagnosed as free of TMEM67 mutation were transferred and one achieving normal pregnancy. Non-invasive prenatal assessment of trisomy 13, 18 and 21 by multiplex DNA sequencing at 18 weeks' gestation excluded the aneuploidy of the analyzed chromosomes. A healthy boy was delivered by cesarean section at 39 weeks' gestation. DNA sequencing from his cord blood confirmed the result of genetic analysis in the PGD cycle. The protocol developed in this study was proved to be rapid and safe for the detection of monogenic mutations in clinical PGD cycle.