1)American College of Obstetricians and Gynecologists' Committee on Practice Bulletin No. 162 : prenatal diagnostic testing for genetic disorders. Obstet Gynecol 127 : 108-122, 2016
2)American College of Obstetricians and Gynecologists' Committee on Practice Bulletin No. 163 : Screening for fetal aneuploidy. Obstet Gynecol 127 : 123-137, 2016
3)Gagnon A, et al : Obstetrical complications associated with abnormal maternal serum markers analytes. J Obstet Gynaecol Can 30 : 918-949, 2008
4)Malan V, et al : Effect of cell-free DNA screening vs direct invasive diagnosis on miscarriage rates in women with pregnancies at high risk of trisomy 21 : a randomized clinical trial. JAMA 320 : 557-565, 2018
5)Bianchi DW, et al : DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med 370 : 799-808, 2014
6)Norton ME, et al : Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med 372 : 1589-1597, 2015
7)Gil MM, et al : Clinical implementation of routine screening for fetal trisomies in the UK NHS : cell-free DNA test contingent on results from first-trimester combined test. Ultrasound Obstet Gynecol 47 : 45-52, 2016
8)See comment in PubMed Commons belowOepkes D, et al : Trial by Dutch laboratories for evaluation of non-invasive prenatal testing part I-clinical impact. Prenat Diagn 36 : 1083-1090, 2016
9)Yotsumoto J, et al : A survey on awareness of genetic counseling for non-invasive prenatal testing : the first year experience in Japan. J Hum Genet 61 : 995-1001, 2016
10)西山深雪,他 : Non-invasive prenatal genetic testingの遺伝カウンセリング担当者に対する質問紙調査.日遺伝カウンセリング会誌37 : 11-20, 2016
11)Nishiyama M, et al : Factors affecting parental decisions to terminate pregnancy in the presence of chromosome abnormalities : a Japanese multicenter study. Prenat Diagn 36 : 1121-1126, 2016
12)tyuuNiNiNLi DK, et al : Factors influencing women's acceptance of prenatal screening tests. Prenat Diagn 28 : 1136-1143, 2008
13)Julian-Reynier C, et al : Reasons for women's non-uptake of amniocentesis. Prenat Diagn 14 : 859-864, 1994
14)日本産科婦人科学会倫理委員会 : 母体血を用いた新しい出生前遺伝学的検査に関する指針, 2013 http://www.jsog.or.jp/news/pdf/guidelineForNIPT_20130309.pdf
15)Samura O, et al : Current status of non-invasive prenatal testing in Japan. J Obstet Gynaecol Res 43 : 1245-1255, 2017
16)Bianchi DW, et al : Sequencing of circulating cell-free DNA during pregnancy. N Engl J Med 379 : 464-473, 2018
17)Hartwig TS, et al : Discordant non-invasive prenatal testing(NIPT) -a systematic review. Prenat Diagn 37 : 527-539, 2017
18)Benn P, et al : Position statement from the chromosome abnormality screening committee on behalf of the board of the International Society for Prenatal Diagnosis. Prenat Diagn 35 : 725-34.2015
19)Burns W, et al : The association between anticoagulation therapy, maternal characteristics, and a failed cfDNA test due to a low fetal fraction. Prenat Diagn 37 : 1125-1129, 2017
20)Bianchi DW, et al : Cherchez la femme : maternal incidental findings can explain discordant prenatal cell-free DNA sequencing results. Genet Med 20 : 910-917, 2018