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After density\u2010based separation and immunostaining with multiple biomarkers, candidate fetal cells were identified by high\u2010throughput imagine analysis and picked up by automation. Individual fetal cells were subjected to STR\u2010genotyping to identify their origin. Pathogenic mutations were identified by direct Sanger sequencing, and a combination of targeted NGS and SNP haplotyping using a custom panel. All the results were compared with amniotic fluid DNA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Fetal trophoblasts were successfully harvested from maternal blood. STR\u2010genotyping confirmed the fetal origin. Direct sequencing of pathogenic genetic mutations in fetal cells showed consistent results with amniotic fluid samples. For congenital deafness family, NGS\u2010based SNP haplotyping also correctly identified the fetal haplotype. This single cell haplotyping method can be used to diagnose various genetic diseases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We have established a method for noninvasive prenatal testing of monogenic diseases from circulating trophoblast cells. This cell\u2010based NIPT can be further applied to the prenatal diagnosis of various monogenic diseases.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.5796","type":"journal-article","created":{"date-parts":[[2020,7,16]],"date-time":"2020-07-16T20:44:28Z","timestamp":1594932268000},"page":"400-408","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["A novel method for noninvasive diagnosis of monogenic diseases from circulating fetal cells"],"prefix":"10.1002","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8028-2287","authenticated-orcid":false,"given":"Liang","family":"Chang","sequence":"first","affiliation":[{"name":"Center for Reproductive Medicine, Department of Obstetrics and Gynaecology Peking University Third Hospital  Beijing China"},{"name":"National Clinical Research Center for Obstetrics and Gynaecology  Beijing China"},{"name":"Key Laboratory of Assisted Reproduction (Peking University) Ministry of Education  Beijing China"},{"name":"Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaohui","family":"Zhu","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine, Department of Obstetrics and Gynaecology Peking University Third Hospital  Beijing China"},{"name":"Key Laboratory of Assisted Reproduction (Peking University) Ministry of Education  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rong","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine, Department of Obstetrics and Gynaecology Peking University Third Hospital  Beijing China"},{"name":"National Clinical Research Center for Obstetrics and Gynaecology  Beijing China"},{"name":"Key Laboratory of Assisted Reproduction (Peking University) Ministry of Education  Beijing China"},{"name":"Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Han","family":"Wu","sequence":"additional","affiliation":[{"name":"Unimed Biotech (Shanghai) Co., Ltd.  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