Prenatal diagnosis after high chance non-invasive prenatal testing for trisomies 21, 18 and 13, chorionic villus sampling or amniocentesis? - Experience at a district general hospital in the United Kingdom

被引：3
作者：
Okoror, Collins Ejakhianghe Maximilian [1 ,2 ]
Arora, Suruchi [1 ]
机构：
[1] Royal Berkshire Hosp, Dept Obstet & Gynaecol, Craven Rd, Reading RG1 5AN, England
[2] Royal Berkshire Hosp, Dept Obstet & Gynaecol, Reading RG1 5AN, England
来源：
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY-X | 2023年 / 19卷
关键词：
Non-invasive prenatal testing (NIPT); Antenatal screening/diagnosis; Chorionic villus sampling (CVS); Amniocentesis; Invasive prenatal testing/diagnosis; Confined placental mosaicism (CPM); CELL-FREE DNA; FREE FETAL DNA; MATERNAL PLASMA; NATIONAL SOCIETY; ANEUPLOIDIES; MOSAICISM; CONFIRMATION; ABNORMALITY; PREGNANCIES; STATEMENT;
D O I：
10.1016/j.eurox.2023.100211
中图分类号：
R71 [妇产科学];
学科分类号：
100211 ;
摘要：
The non-invasive prenatal testing (NIPT) analyses cell-free DNA (cfDNA) derived from the placental tissue in the maternal circulation. Though highly sensitive and specific, a major limitation is in cases of confined placental mosaicism (CPM). Whether to perform chorionic villus sampling (CVS) or amniocentesis to confirm a positive NIPT result is controversial. One major drawback of CVS is that cytogenetic diagnosis may not always reflect the true chromosomal make-up of the fetus. This work, therefore, proposes the use of amniocentesis in the presence of normal ultrasound findings, and the option of either CVS or amniocentesis when there are abnormal USS findings.
引用
收藏
页数：6
相关论文
共 48 条
  • [21] ACMG statement on noninvasive prenatal screening for fetal aneuploidy
    Gregg, Anthony R.
    Gross, S. J.
    Best, R. G.
    Monaghan, K. G.
    Bajaj, K.
    Skotko, B. G.
    Thompson, B. H.
    Watson, M. S.
    [J]. GENETICS IN MEDICINE, 2013, 15 (05) : 395 - 398
  • [22] Repeated failed non-invasive prenatal testing owing to low cell-free fetal DNA fraction and increased variance in a woman with severe autoimmune disease
    Hui, L.
    Bethune, M.
    Weeks, A.
    Kelley, J.
    Hayes, L.
    [J]. ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2014, 44 (02) : 242 - 243
  • [23] Hui Y, 2016, Repeated failed non-invasive prenatal testing in a woman with immune thrombocytopenia and antiphospholipid syndrome: lessons learnt
  • [24] Factors affecting levels of circulating cell-free fetal DNA in maternal plasma and their implications for noninvasive prenatal testing
    Kinnings, Sarah L.
    Geis, Jennifer A.
    Almasri, Eyad
    Wang, Huiquan
    Guan, Xiaojun
    McCullough, Ron M.
    Bombard, Allan T.
    Saldivar, Juan-Sebastian
    Oeth, Paul
    Deciu, Cosmin
    [J]. PRENATAL DIAGNOSIS, 2015, 35 (08) : 816 - 822
  • [25] A large-scale evaluation of amnio-PCR for the rapid prenatal diagnosis of fetal trisomy
    Levett, LJ
    Liddle, S
    Meredith, R
    [J]. ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2001, 17 (02) : 115 - 118
  • [26] 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
    Malan, Valerie
    Bussieres, Laurence
    Winer, Norbert
    Jais, Jean-Philippe
    Baptiste, Amandine
    Le Lorc'h, Marc
    Elie, Caroline
    O'Gorman, Neil
    Fries, Nicolas
    Houfflin-Debarge, Veronique
    Sentilhes, Loic
    Vekemans, Michel
    Ville, Yves
    Salomon, Laurent J.
    [J]. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2018, 320 (06): : 557 - 565
  • [27] Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis
    Malvestiti, Francesca
    Agrati, Cristina
    Grimi, Beatrice
    Pompilii, Eva
    Izzi, Claudia
    Martinoni, Lorenza
    Gaetani, Elisa
    Liuti, Maria Rosaria
    Trotta, Anna
    Maggi, Federico
    Simoni, Giuseppe
    Grati, Francesca Romana
    [J]. PRENATAL DIAGNOSIS, 2015, 35 (11) : 1117 - 1127
  • [28] Confined Placental Mosaicism and Its Impact on Confirmation of NIPT Results
    Mardy, Anne
    Wapner, Ronald J.
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2016, 172 (02) : 118 - 122
  • [29] COUNSELING FOLLOWING DIAGNOSIS OF A FETAL-ABNORMALITY - THE DIFFERING APPROACHES OF OBSTETRICIANS, CLINICAL GENETICISTS, AND GENETIC NURSES
    MARTEAU, T
    DRAKE, H
    BOBROW, M
    [J]. JOURNAL OF MEDICAL GENETICS, 1994, 31 (11) : 864 - 867
  • [30] Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism
    Masuzaki, H
    Miura, K
    Yoshiura, K
    Yoshimura, S
    Niikawa, N
    Ishimaru, T
    [J]. JOURNAL OF MEDICAL GENETICS, 2004, 41 (04) : 289 - 292
12345