scholarly journals A Case of False Negative NIPT for Down Syndrome-Lessons Learned

2014 ◽  
Vol 2014 ◽  
pp. 1-3 ◽  
Author(s):  
Meagan Smith ◽  
Kimberly M. Lewis ◽  
Alexandrea Holmes ◽  
Jeannie Visootsak
Keyword(s):  
Down Syndrome ◽  
Genetic Counseling ◽  
Case Report ◽  
Prenatal Care ◽  
Trisomy 21 ◽  
False Negative ◽  
Prenatal Testing ◽  
Lessons Learned ◽  
Noninvasive Prenatal Testing ◽  
Common Cause

Down syndrome or trisomy 21 is the most common cause of prenatal chromosome abnormalities with approximately 50% of all reported chromosome conditions. With the successful introduction of noninvasive prenatal testing (NIPT) for Down syndrome into routine prenatal care, it is important to understand the risks, benefits, and limitations in order to guide patients in making an informed decision. Herein, we describe the first published case report of a patient whose fetus tested “negative” for Trisomy 21 by NIPT but was diagnosed postnatally with trisomy 21. We present the importance of proper pretest and posttest genetic counseling to ensure prenatal patients are able to make informed decisions and are educated appropriately about NIPT.

scholarly journals Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield

2018 ◽  
Vol 2018 ◽  
pp. 1-6
Author(s):  
Irene Gómez-Manjón ◽  
Ana Moreno-Izquierdo ◽  
Sonia Mayo ◽  
Marta Moreno-García ◽  
Aitor Delmiro ◽  
...  
Keyword(s):  
Peripheral Blood ◽  
Trisomy 21 ◽  
Diagnostic Yield ◽  
False Negative ◽  
Prenatal Testing ◽  
False Positives ◽  
Trisomy 18 ◽  
Trisomy 13 ◽  
Noninvasive Prenatal Testing ◽  
Semiconductor Sequencing

Objective. The aim of this study was to determine if the use of different mappers for NIPT may vary the results considerably. Methods. Peripheral blood was collected from 217 pregnant women, 58 pathological (34 pregnancies with trisomy 21, 18 with trisomy 18, and 6 with trisomy 13) and 159 euploid. MPS was performed following a manufacturer’s modified protocol of semiconductor sequencing. Obtained reads were mapped with two different software programs: TMAP and HPG-Aligner, comparing the results. Results. Using TMAP, 57 pathological samples were correctly detected (sensitivity 98.28%, specificity 93.08%): 33 samples as trisomy 21 (sensitivity 97.06%, specificity 99.45%), 16 as trisomy 18 (sensibility 88.89%, specificity 93.97%), and 6 as trisomy 13 (sensibility 100%, specificity 100%). 11 false positives, 1 false negative, and 2 samples incorrectly identified were obtained. Using HPG-Aligner, all the 58 pathological samples were correctly identified (sensibility 100%, specificity 96.86%): 34 as trisomy 21 (sensibility 100%, specificity 98.91%), 18 as trisomy 18 (sensibility 100%, specificity 98.99%), and 6 as trisomy 13 (sensibility 100%, specificity 99.53%). 5 false positives were obtained. Conclusion. Different mappers use slightly different algorithms, so the use of one mapper or another with the same batch file can provide different results.

Noninvasive prenatal testing: Impact on genetic counseling, invasive prenatal diagnosis, and trisomy 21 detection

2014 ◽  
pp. n/a-n/a ◽  
Author(s):  
Joseph R. Wax ◽  
Angelina Cartin ◽  
Renée Chard ◽  
F. Lee Lucas ◽  
Michael G. Pinette
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Trisomy 21 ◽  
Prenatal Testing ◽  
Noninvasive Prenatal Testing

Parenting the Child With Down Syndrome: Understanding—but Going Beyond—the “Down Syndrome Advantage”

2020 ◽  
Author(s):  
Robert M. Hodapp ◽  
Ellen G. Casale
Keyword(s):  
Socioeconomic Status ◽  
Down Syndrome ◽  
Behavior Problems ◽  
Prenatal Testing ◽  
Children With Autism ◽  
Facial Features ◽  
Cultural Resources ◽  
Noninvasive Prenatal Testing ◽  
Birth Parents ◽  
Children With Down Syndrome

Compared to parents of children with other types of intellectual disabilities, parents of children with Down syndrome experience less stress and more rewards, although this “Down syndrome advantage” mostly occurs compared to parents of children with autism and before groups are equated. Behaviorally, children with Down syndrome display more sociable interactional styles and baby-faced facial features, along with fewer instances of severe behavior problems. Demographically, parents of children with (versus without) Down syndrome average 5 years older when giving birth; parents are more often well educated, married, of higher socioeconomic status, and they likely provide these children greater financial and cultural resources. In most industrialized societies, rates of Down syndrome seem steady, with easily available, noninvasive prenatal testing counteracted by increasing numbers of women giving birth at older ages. Parenting children with Down syndrome relates to characteristics of children, their parents, and society, all of which intersect in important, underexplored ways.

Invasive Prenatal Diagnosis

2020 ◽  
Author(s):  
Kimberly Zayhowski
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Genetic Testing ◽  
Prenatal Care ◽  
Chorionic Villus ◽  
Prenatal Testing ◽  
Chorionic Villus Sampling ◽  
Genetic Tests ◽  
Genetic Technologies ◽  
Invasive Techniques

Despite recent advances in genetic technologies that are making invasive prenatal diagnosis less common, amniocentesis and chorionic villus sampling (CVS) remain an integral part of prenatal care. A multitude of tests, including a variety of genetic tests, can be performed using samples collected from either procedure. Although invasive testing has limitations, many genetic conditions can only be diagnosed through invasive techniques during pregnancy. Invasive testing continues to assist patients and providers in making informed decisions regarding the care of pregnancies. This review details amniocentesis and chorionic villus sampling with a focus on genetic testing, describing why the tests are performed, the way in which they are performed, and the associated limitations and complications of the procedures.  This review 5 figures, 3 tables, and 26 references. Keywords: prenatal diagnosis, amniocentesis, chorionic villus sampling, genetic testing, genetic counseling, invasive prenatal testing, pregnancy, aneuploidy

Genetic Counseling for Couples Seeking Noninvasive Prenatal Testing in Japan: Experiences of Pregnant Women and their Partners

2016 ◽  
Vol 26 (3) ◽  
pp. 628-639 ◽  
Author(s):  
Motoko Watanabe ◽  
Mari Matsuo ◽  
Masaki Ogawa ◽  
Toshitaka Uchiyama ◽  
Satoru Shimizu ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Pregnant Women ◽  
Prenatal Testing ◽  
Noninvasive Prenatal Testing

Uptake of Noninvasive Prenatal Testing in Chinese Women following Positive Down Syndrome Screening

2014 ◽  
Vol 37 (2) ◽  
pp. 141-147 ◽  
Author(s):  
C.F. Poon ◽  
W.C. Tse ◽  
K.O. Kou ◽  
K.Y. Leung
Keyword(s):  
Down Syndrome ◽  
Chinese Women ◽  
Multivariable Analysis ◽  
Chorionic Villus ◽  
Prenatal Testing ◽  
First Trimester ◽  
Screening Methods ◽  
Chorionic Villus Sampling ◽  
Noninvasive Prenatal Testing ◽  
Down Syndrome Screening

Objectives: To investigate how the introduction of noninvasive prenatal testing (NIPT) influenced women's testing choices following a positive Down syndrome screening. Methods: A retrospective study was conducted to compare differences in the uptake rates of invasive prenatal diagnosis (IPD) or no testing in one public hospital 1 year before (pre-NIPT) and 1 and 2 years after the introduction of NIPT in private in August 2011 using descriptive analysis and a χ2 test. Conventional screening was funded publicly, but NIPT was not. Multivariable binary logistic regression was used to determine factors affecting choices. Results: In pre-NIPT and in years 1 and 2 after the introduction of NIPT, 306, 362 and 401 women who screened positive were seen, respectively. In year 1 and year 2, 12.6 and 26.7% of them underwent NIPT while IPD was decreased by 16.3 and 25.6%, respectively (p < 0.001). Both chorionic villus sampling and amniocentesis decreased in year 1, but only the former in year 2. However, the rate of declining further testing was similar before and after NIPT (p = 0.213). In multivariable analysis, first trimester screening, nulliparity and working women were significant predictors of accepting NIPT, while only nulliparity was a predictor of declining IPD (OR = 0.61). Conclusions: Introduction of NIPT resulted in a significant decrease in IPD for 2 consecutive years.

scholarly journals Attitudes of Mothers of Children with Down Syndrome Towards Noninvasive Prenatal Testing

2014 ◽  
Vol 23 (5) ◽  
pp. 805-813 ◽  
Author(s):  
Gregory Kellogg ◽  
Leah Slattery ◽  
Louanne Hudgins ◽  
Kelly Ormond
Keyword(s):  
Down Syndrome ◽  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Children With Down Syndrome
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