論文一覧

当社の NIPTに関連する論文に関する主な論文を紹介します。

• August　2024

  Confined placental mosaicism with trisomy 13 complicated by severe preeclampsia: A case report and literature review
  J Obstet Gynaecol Res. 2024 Aug 6. doi: 10.1111/jog.16035. Epub ahead of print. PMID: 39106876.

  https://pubmed.ncbi.nlm.nih.gov/39106876/

• May　2024

  NIPTで偽陽性・判定保留を示し, 経時的解析を行ったvanishing twinの1例
  日本周産期・新生児医学会雑誌 60 (1) 99-104, 2024

  https://www.jstage.jst.go.jp/article/jjspnm/60/1/60_99/_pdf/-char/ja

• December　2021

  Non-Invasive Prenatal Genetic Testing (NIPT) Leading to Prenatal Diagnosis of Trisomy 21 Mosaicism and 18q Deletion Syndrome: Two Cases.
  Acta Med Okayama. 2021 Dec;75(6):745-750. doi: 10.18926/AMO/62816. PMID: 34955544.

  https://pubmed.ncbi.nlm.nih.gov/34955544/

• October　2021

  Prenatal Identification of Confined Placental Mosaicism in Pregnant Women with Fetal Growth Restriction.
  Reprod Sci. 2022 Mar;29(3):896-903. doi: 10.1007/s43032-021-00772-3. Epub 2021 Oct 28. PMID: 34713432.

  https://pubmed.ncbi.nlm.nih.gov/34713432/

• August　2021

  Evaluation of the clinical performance of noninvasive prenatal testing at a Japanese laboratory.
  J Obstet Gynaecol Res. 2021 Oct;47(10):3437-3446. doi: 10.1111/jog.14954. Epub 2021 Aug 5. PMID: 34355471.

  https://pubmed.ncbi.nlm.nih.gov/34355471/

• June　2021

  Alteration of circulating cell-free DNA level by external cephalic version: A potential biomarker for direct evaluation of placental damage.
  J Obstet Gynaecol Res. 2021 Sep;47(9):3144-3150. doi: 10.1111/jog.14853. Epub 2021 Jun 29. PMID: 34189855.

  https://pubmed.ncbi.nlm.nih.gov/34189855/

• Octobar　2020

  Retrospective details of false-positive and false-negative results in non-invasive prenatal testing for fetal trisomies 21, 18 and 13.
  Eur J Obstet Gynecol Reprod Biol. 2021 Jan;256:75-81. doi: 10.1016/j.ejogrb.2020.10.050. Epub 2020 Oct 27. PMID: 33171421.

  https://pubmed.ncbi.nlm.nih.gov/33171421/

• September　2020

  Identification of differentially methylated HpaII sites by NGS analysis of HpaII-digested libraries.
  Anal Biochem. 2020 Nov 15;609:113977. doi: 10.1016/j.ab.2020.113977. Epub 2020 Sep 30. PMID: 33010204.

  https://pubmed.ncbi.nlm.nih.gov/33010204/

• June　2020

  Noninvasive prenatal testing aids identification of tetrasomy 18p: A case report.
  Case Rep Womens Health. 2020 Jun 25;27:e00236. doi: 10.1016/j.crwh.2020.e00236. PMID: 32642449; PMCID: PMC7334301.

  https://pubmed.ncbi.nlm.nih.gov/32642449/

• April　2020

  Nonreportable rates and cell-free DNA profiles in noninvasive prenatal testing among women with heparin treatment.
  Prenat Diagn. 2020 Jun;40(7):838-845. doi: 10.1002/pd.5695. Epub 2020 Apr 16. PMID: 32274797.

  https://pubmed.ncbi.nlm.nih.gov/32274797/

• March　2020

  A case of Ewing’s sarcoma identified via noninvasive prenatal testing.
  Clin Case Rep. 2020 Mar 14;8(5):867-871. doi: 10.1002/ccr3.2673. PMID: 32477536; PMCID: PMC7250981.

  https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250981/

• January　2019

  Classification of factors involved in nonreportable results of noninvasive prenatal testing (NIPT) and prediction of success rate of second NIPT.
  Prenat Diagn. 2019 Jan;39(2):100-106. doi: 10.1002/pd.5408. Epub 2019 Jan 10. PMID: 30586157.

  https://pubmed.ncbi.nlm.nih.gov/30586157/

• August　2018

  Molecular genetic analysis reveals atypical confined placental mosaicism with a small supernumerary marker chromosome derived from chromosome 18: A clinical report of discordant results from three prenatal tests.
  Eur J Med Genet. 2019 Jun;62(6):103533. doi: 10.1016/j.ejmg.2018.08.014. Epub 2018 Aug 30. PMID: 30171908.

  https://pubmed.ncbi.nlm.nih.gov/30171908/

• July　2018

  Massively parallel sequencing of cell-free DNA in plasma for detecting gynaecological tumour-associated copy number alteration. Sci Rep. 2018 Jul 25;8(1):11205. doi: 10.1038/s41598-018-29381-y. Erratum in: Sci Rep. 2018 Oct 23;8(1):15883. PMID: 30046040; PMCID: PMC6060170.

  https://pubmed.ncbi.nlm.nih.gov/30046040/

• July　2018

  Performance and outcomes of noninvasive prenatal testing for twin pregnancies in Japan.
  J Obstet Gynaecol Res. 2018 Oct;44(10):1909-1914. doi: 10.1111/jog.13744. Epub 2018 Jul 17. PMID: 30015363.

  https://pubmed.ncbi.nlm.nih.gov/30015363/

• May　2018

  Maternal age-specific risk for trisomy 21 based on the clinical performance of NIPT and empirically derived NIPT age-specific positive and negative predictive values in Japan.
  J Hum Genet. 2018 Oct;63(10):1035-1040. doi: 10.1038/s10038-018-0453-8. Epub 2018 May 30. Erratum in: J Hum Genet. 2018 Aug 1;: PMID: 29849041.

  https://pubmed.ncbi.nlm.nih.gov/29849041/

• March 2018

  Fetal cell-free DNA fraction in maternal plasma for the prediction of hypertensive disorders of pregnancy.
  Eur J Obstet Gynecol Reprod Biol. 2018 May;224:165-169. doi: 10.1016/j.ejogrb.2018.03.048. Epub 2018 Mar 26. PMID: 29605711.

  https://pubmed.ncbi.nlm.nih.gov/29605711/

• June　2017

  Current status of non-invasive prenatal testing in Japan.
  J Obstet Gynaecol Res. 2017 Aug;43(8):1245-1255. doi: 10.1111/jog.13373. Epub 2017 Jun 6. PMID: 28586143.

  https://pubmed.ncbi.nlm.nih.gov/28586143/

• March　2016

  Fetal cell-free DNA fraction in maternal plasma is affected by fetal trisomy.
  J Hum Genet. 2016 Jul;61(7):647-52. doi: 10.1038/jhg.2016.25. Epub 2016 Mar 17. PMID: 26984559.

  https://pubmed.ncbi.nlm.nih.gov/26984559/

• July　2015

  Uterine leiomyoma confounding a noninvasive prenatal test result.
  Prenat Diagn. 2015 Oct;35(10):990-3. doi: 10.1002/pd.4629. Epub 2015 Jul 6. PMID: 26058600.

  https://pubmed.ncbi.nlm.nih.gov/26058600/