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- Publisher Website: 10.1016/j.ygeno.2019.04.001
- Scopus: eid_2-s2.0-85063915379
- PMID: 30946890
- WOS: WOS:000506628500054
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Article: Distinguishing between carrier and noncarrier embryos with the use of long-read sequencing in preimplantation genetic testing for reciprocal translocations
Title | Distinguishing between carrier and noncarrier embryos with the use of long-read sequencing in preimplantation genetic testing for reciprocal translocations |
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Authors | |
Keywords | Preimplantation genetic testing PGT-SR Reciprocal translocation Nanopore sequencing |
Issue Date | 2020 |
Publisher | Academic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygeno |
Citation | Genomics, 2020, v. 112 n. 1, p. 494-500 How to Cite? |
Abstract | Balanced reciprocal translocation carriers are usually phenotypically normal but are at an increased risk of infertility, recurrent miscarriage or having affected children. Preimplantation genetic testing on chromosomal structural rearrangement (PGT-SR) offers a way to screen against unbalanced embryos. Here, we demonstrated a new method to distinguish carrier from noncarrier embryos. Translocation breakpoints were first delineated by nanopore sequencing followed by polymerase chain reaction (PCR) across breakpoints. High-resolution breakpoint mapping was successful in all (9/9) balanced reciprocal translocation carriers. Retrospective analysis of their embryo biopsies with breakpoint PCR showed 100% concordant results with PGT-SR on trophectoderm biopsies (40/40) and 53% concordance on blastomere biopsies (8/15). The low concordant rate in blastomeres was due to failure in the amplification of derivative chromosomes involving large deletions. Breakpoint PCR also showed 100% concordant results with prenatal/postnatal outcomes on 5 pregnancies, indicating that our new method can accurately distinguish carrier from noncarrier embryos. |
Persistent Identifier | http://hdl.handle.net/10722/285335 |
ISSN | 2023 Impact Factor: 3.4 2023 SCImago Journal Rankings: 0.850 |
ISI Accession Number ID |
DC Field | Value | Language |
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dc.contributor.author | Chow, JFC | - |
dc.contributor.author | Cheng, HYH | - |
dc.contributor.author | Lau, EYL | - |
dc.contributor.author | Yeung, WSB | - |
dc.contributor.author | Ng, EHY | - |
dc.date.accessioned | 2020-08-18T03:52:30Z | - |
dc.date.available | 2020-08-18T03:52:30Z | - |
dc.date.issued | 2020 | - |
dc.identifier.citation | Genomics, 2020, v. 112 n. 1, p. 494-500 | - |
dc.identifier.issn | 0888-7543 | - |
dc.identifier.uri | http://hdl.handle.net/10722/285335 | - |
dc.description.abstract | Balanced reciprocal translocation carriers are usually phenotypically normal but are at an increased risk of infertility, recurrent miscarriage or having affected children. Preimplantation genetic testing on chromosomal structural rearrangement (PGT-SR) offers a way to screen against unbalanced embryos. Here, we demonstrated a new method to distinguish carrier from noncarrier embryos. Translocation breakpoints were first delineated by nanopore sequencing followed by polymerase chain reaction (PCR) across breakpoints. High-resolution breakpoint mapping was successful in all (9/9) balanced reciprocal translocation carriers. Retrospective analysis of their embryo biopsies with breakpoint PCR showed 100% concordant results with PGT-SR on trophectoderm biopsies (40/40) and 53% concordance on blastomere biopsies (8/15). The low concordant rate in blastomeres was due to failure in the amplification of derivative chromosomes involving large deletions. Breakpoint PCR also showed 100% concordant results with prenatal/postnatal outcomes on 5 pregnancies, indicating that our new method can accurately distinguish carrier from noncarrier embryos. | - |
dc.language | eng | - |
dc.publisher | Academic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygeno | - |
dc.relation.ispartof | Genomics | - |
dc.subject | Preimplantation genetic testing | - |
dc.subject | PGT-SR | - |
dc.subject | Reciprocal translocation | - |
dc.subject | Nanopore sequencing | - |
dc.title | Distinguishing between carrier and noncarrier embryos with the use of long-read sequencing in preimplantation genetic testing for reciprocal translocations | - |
dc.type | Article | - |
dc.identifier.email | Chow, JFC: jfcchow@hku.hk | - |
dc.identifier.email | Cheng, HYH: chy610a@hku.hk | - |
dc.identifier.email | Lau, EYL: eyllau@hku.hk | - |
dc.identifier.email | Yeung, WSB: wsbyeung@hku.hk | - |
dc.identifier.email | Ng, EHY: nghye@hku.hk | - |
dc.identifier.authority | Yeung, WSB=rp00331 | - |
dc.identifier.authority | Ng, EHY=rp00426 | - |
dc.description.nature | link_to_subscribed_fulltext | - |
dc.identifier.doi | 10.1016/j.ygeno.2019.04.001 | - |
dc.identifier.pmid | 30946890 | - |
dc.identifier.scopus | eid_2-s2.0-85063915379 | - |
dc.identifier.hkuros | 312854 | - |
dc.identifier.volume | 112 | - |
dc.identifier.issue | 1 | - |
dc.identifier.spage | 494 | - |
dc.identifier.epage | 500 | - |
dc.identifier.isi | WOS:000506628500054 | - |
dc.publisher.place | United States | - |
dc.identifier.issnl | 0888-7543 | - |