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The diagnosis of 3M syndrome could be confirmed by identifying biallelic variants in <jats:italic>CUL7<\/jats:italic>, <jats:italic>OBSL1<\/jats:italic>, or <jats:italic>CCDC8<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Whole\u2010exome sequencing (WES) was performed to identify genetic causes. Reverse\u2010transcription polymerase chain reaction (RT\u2010PCR) was performed to detect aberrant splicing events. Haplotypes were constructed using multiplex PCR and sequencing. Variants of the parental haplotype and target likely pathogenic variants were detected by PCR and Sanger sequencing from the embryos. Copy number variant (CNV) detection was performed by next\u2010generation sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We present the case of a nonconsanguineous Chinese couple with one abnormal pregnancy, where the fetus showed 3M phenotypes of shortened long bones. WES identified two novel heterozygous mutations in <jats:italic>CUL7<\/jats:italic>: NM_014780.5:c.354del (p.Gln119ArgfsTer52) and NM_014780.5:c.1373\u201015G&gt;A. RT\u2010PCR from RNA of the mother's peripheral blood leucocytes showed that c.1373\u201015G&gt;A caused the insertion of a 13\u2010bp extra intron sequence and encoded the mutant p.Leu459ProfsTer25. Both variants were classified as likely pathogenic according to ACMG\/AMP guidelines and Clinical Genome Resource specifications. During genetic counseling, the options of prenatal diagnosis through chorionic villus sampling or amniocentesis, adoption, sperm donation, and electing not to reproduce, as well as preimplantation genetic testing for monogenic disorders (PGT\u2010M), were discussed. The couple hopes to conceive a child of their own and refused to accept the 25% risk during the next pregnancy and opted for PGT\u2010M. They finally successfully delivered a healthy baby through PGT\u2010M.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study expanded the mutation spectrum of <jats:italic>CUL7<\/jats:italic>, detected the aberrant splicing event of <jats:italic>CUL7<\/jats:italic> via RT\u2010PCR, constructed the haplotype for PGT\u2010M, and demonstrated the successful delivery of a healthy baby using PGT\u2010M.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2284","type":"journal-article","created":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T08:43:45Z","timestamp":1698223425000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Prenatal diagnosis and preimplantation genetics testing of <scp>3M<\/scp> syndrome in a Chinese family with novel biallelic variants of 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