Non-invasive Prenatal Testing in Pregnancies Following Assisted Reproduction

被引:2
作者
Kamath, Vandana [1 ]
Chacko, Mary Purna [1 ]
Kamath, Mohan S. [2 ,3 ]
机构
[1] Christian Med Coll & Hosp, Dept Cytogenet, Vellore 632004, India
[2] Christian Med Coll & Hosp, Dept Reprod Med & Surg, Vellore 632004, India
[3] Christian Med Coll & Hosp, Dept Reprod Med & Surg, Vellore 632004, Tamil Nadu, India
关键词
NIPT; prenatal screening; aneuploidy; ART; pregnancy; assisted reproduction; non-invasive; CELL-FREE DNA; FREE FETAL DNA; IN-VITRO FERTILIZATION; MATERNAL PLASMA DNA; DOWN-SYNDROME; POSITION STATEMENT; UNITED-STATES; ANEUPLOIDY; DIAGNOSIS; TRISOMIES;
D O I
10.2174/1389202923666220518095758
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
In the decade since non-invasive prenatal testing (NIPT) was first implemented as a prenatal screening tool, it has gained recognition for its sensitivity and specificity in the detection of common aneuploidies. This review mainly focuses on the emerging role of NIPT in pregnancies following assisted reproductive technology (ART) in the light of current evidence and recommendations. It also deals with the challenges, shortcomings and interpretational difficulties related to NIPT in ART pregnancies, with particular emphasis on twin and vanishing twin pregnancies, which are widely regarded as the Achilles' heel of most pre-natal screening platforms. Future directions for exploration towards improving the performance and extending the scope of NIPT are also addressed.
引用
收藏
页码:326 / 336
页数:11
相关论文
共 99 条
[51]   Noninvasive Prenatal Diagnosis of Fetal Trisomy 21 by Allelic Ratio Analysis Using Targeted Massively Parallel Sequencing of Maternal Plasma DNA [J].
Liao, Gary J. W. ;
Chan, K. C. Allen ;
Jiang, Peiyong ;
Sun, Hao ;
Leung, Tak Y. ;
Chiu, Rossa W. K. ;
Lo, Y. M. Dennis .
PLOS ONE, 2012, 7 (05)
[52]   CANADIAN MULTICENTER RANDOMIZED CLINICAL-TRIAL OF CHORION VILLUS SAMPLING AND AMNIOCENTESIS - FINAL REPORT [J].
LIPPMAN, A ;
TOMKINS, DJ ;
SHIME, J ;
HAMERTON, JL .
PRENATAL DIAGNOSIS, 1992, 12 (05) :385-408
[53]   Rapid clearance of fetal DNA from maternal plasma [J].
Lo, YMD ;
Zhang, J ;
Leung, TN ;
Lau, TK ;
Chang, AMZ ;
Hjelm, NM .
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (01) :218-224
[54]   Quantitative analysis of fetal DNA in maternal plasma and serum: Implications for noninvasive prenatal diagnosis [J].
Lo, YMD ;
Tein, MSC ;
Lau, TK ;
Haines, CJ ;
Leung, TN ;
Poon, PMK ;
Wainscoat, JS ;
Johnson, PJ ;
Chang, AMZ ;
Hjelm, NM .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (04) :768-775
[55]   Presence of fetal DNA in maternal plasma and serum [J].
Lo, YMD ;
Corbetta, N ;
Chamberlain, PF ;
Rai, V ;
Sargent, IL ;
Redman, CWG ;
Wainscoat, JS .
LANCET, 1997, 350 (9076) :485-487
[56]  
MANDEL P., 1948, C R Seances Soc Biol Fil, V142, P3
[57]  
Melissa K., 2019, POSTER SESSION FERTI, V112, pe120
[58]   Clinical experience with non-invasive prenatal screening for single-gene disorders [J].
Mohan, P. ;
Lemoine, J. ;
Trotter, C. ;
Rakova, I ;
Billings, P. ;
Peacock, S. ;
Kao, C-Y ;
Wang, Y. ;
Xia, F. ;
Eng, C. M. ;
Benn, P. .
ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2022, 59 (01) :33-39
[59]   Procedure-related complications of amniocentesis and chorionic villous sampling - A systematic review [J].
Mujezinovic, Faris ;
Alfirevic, Zarko .
OBSTETRICS AND GYNECOLOGY, 2007, 110 (03) :687-694
[60]   First-trimester screening for Down's syndrome in in vitro fertilization pregnancies [J].
Niemimaa, M ;
Heinonen, S ;
Seppälä, M ;
Hippeläinen, M ;
Martikainen, H ;
Ryynänen, M .
FERTILITY AND STERILITY, 2001, 76 (06) :1282-1283