Chromosome Abnormalities Detected by Current Prenatal Screening and Noninvasive Prenatal Testing

2014 ◽  
Vol 124 (5) ◽  
pp. 979-986 ◽  
Author(s):  
Mary E. Norton ◽  
Laura L. Jelliffe-Pawlowski ◽  
Robert J. Currier
Keyword(s):  
Prenatal Screening ◽  
Prenatal Testing ◽  
Chromosome Abnormalities ◽  
Noninvasive Prenatal Testing

Efficiency of Noninvasive Prenatal Testing for Sex Chromosome Aneuploidies

2021 ◽  
pp. 1-9
Author(s):  
Yunfang Shi ◽  
Xiaozhou Li ◽  
Duan Ju ◽  
Yan Li ◽  
Xiuling Zhang ◽  
...  
Keyword(s):  
Screening Tool ◽  
Sex Chromosome ◽  
Diagnostic Testing ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Chromosome Abnormalities ◽  
Noninvasive Prenatal Testing ◽  
Sex Chromosome Abnormalities ◽  
Sex Chromosome Aneuploidies ◽  
Mosaic Karyotype

<b><i>Objective:</i></b> This study was designed to investigate the efficiency of noninvasive prenatal testing (NIPT) for screening fetal sex chromosome aneuploidies (SCAs) through sequencing of cell-free DNA in maternal plasma. <b><i>Methods:</i></b> This is a retrospective study on the positive NIPT results for SCAs collected from our hospital between January 2012 and December 2018. Samples with positive NIPT results for SCAs were then confirmed by prenatal or postnatal karyotyping analysis. <b><i>Results:</i></b> After cytogenetic analysis, abnormal karyotypes were confirmed in 104 cases and the overall positive predictive value (PPV) of NIPT for SCAs was 43.40% (102/235). The most frequently detected karyotypes included 47,XXY (<i>n</i> = 42), 47,XXX (<i>n</i> = 20), 47,XYY (<i>n</i> = 16), and 45,X (<i>n</i> = 2). Meanwhile, 10 cases were confirmed with mosaic karyotype 45,X/46,XX and 14 cases with numerical or structural chromosome abnormalities, including a double trisomy 48,XXX,+18. Cytogenetic results from the other 131 cases showed normal XX or XY, which were discordant with NIPT results. Upon analysis of parental karyotypes, 29 (12.34%) showed false positivity in NIPT results that were caused by maternal sex chromosome abnormalities. <b><i>Conclusion:</i></b> NIPT is an effective screening tool for SCA with a PPV of 43.40%. Maternal karyotype abnormalities occurred in 12.34% of the cases with abnormal NIPT. Diagnostic testing of the fetus and the mother are recommended.

scholarly journals Detection of chromosome abnormalities using current noninvasive prenatal testing: A multi-center comparative study

2018 ◽  
Vol 12 (3) ◽  
pp. 317-324 ◽  
Author(s):  
Yan Du ◽  
Jing Lin ◽  
Likun Lan ◽  
Ying Dong ◽  
Jun Zhu ◽  
...  
Keyword(s):  
Comparative Study ◽  
Prenatal Testing ◽  
Chromosome Abnormalities ◽  
Noninvasive Prenatal Testing

Chromosome Abnormalities Detected at Prenatal Diagnosis

2018 ◽  
Author(s):  
R. J McKinlay Gardner ◽  
David J Amor
Keyword(s):  
Prenatal Diagnosis ◽  
Sex Chromosome ◽  
Prenatal Testing ◽  
Maternal Blood ◽  
Chromosome Abnormalities ◽  
Termination Of Pregnancy ◽  
Noninvasive Prenatal Testing ◽  
Specific Diagnosis ◽  
Sex Chromosome Aneuploidy ◽  
Recent Developments

Prenatal diagnosis has given medical cytogenetics one of its major areas of application: from amniocentesis in the earliest days to the recent developments of noninvasive prenatal testing based upon a sample of maternal blood. This chapter explores in detail the specific diagnoses that may be made and the decisions, with particular reference to continuation or termination of pregnancy, that face those women/couples for whom a specific diagnosis has been made. The difficulties of decision inherent in a sex chromosome aneuploidy, a microarray-level rearrangement, and in the context of mosaicism are rehearsed. This discussion is offered on the background of a review of the applied embryology.

scholarly journals Noninvasive prenatal testing for aneuploidy using cell-free DNA – New implications for maternal health

2016 ◽  
Vol 9 (4) ◽  
pp. 148-152 ◽  
Author(s):  
Lisa Hui
Keyword(s):  
Maternal Health ◽  
Prenatal Screening ◽  
Clinical Pathways ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Low Molecular Weight ◽  
Noninvasive Prenatal Testing ◽  
Cell Free Dna ◽  
Free Dna ◽  
Voluntary Testing

The rapid global uptake of noninvasive prenatal testing for Down syndrome based on maternal plasma cell-free DNA has provided new data on the interrelationship between cell-free DNA and maternal health. Specific maternal conditions that can affect the performance of noninvasive prenatal testing include obesity, active autoimmune disease and low molecular weight heparin treatment. There is also a growing appreciation of the implications of discordant noninvasive prenatal testing results for maternal health, including unexpected diagnoses of maternal chromosomal conditions, or rarely, occult cancer. The interrelatedness of noninvasive prenatal testing and maternal health mean that the longstanding principles underpinning prenatal screening – voluntary testing, informed decision making, availability of specialist genetic counselling and well-defined clinical pathways – are more important than ever before.

Noninvasive prenatal testing for fetal trisomy 9 mosaicism by maternal plasma DNA sequencing

2015 ◽  
Vol 4 (1) ◽  
Author(s):  
Luming Sun ◽  
Lei Zhang ◽  
Jia Zhou ◽  
Xiaonan Yang ◽  
Tao Duan ◽  
...  
Keyword(s):  
Dna Sequencing ◽  
Trisomy 21 ◽  
Prenatal Screening ◽  
Detection Efficiency ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Plasma Dna ◽  
Noninvasive Prenatal Testing ◽  
Trisomy 9 ◽  
Screening And Diagnosis

AbstractMaternal plasma DNA sequencing based noninvasive prenatal testing (NIPT) has been proven to be highly accurate in the detection of trisomy 21, 18, 13, X and Y, however, few reports have been made on its detection efficiency of rare complex aneuploidies. Here, we report a case of fetal trisomy 9 mosaicism identified by using NIPT, which may provide useful information for the further integration of NIPT into prenatal screening and diagnosis practice.

Sign in / Sign up

Export Citation Format

Share Document