scholarly journals Noninvasive prenatal testing aids identification of tetrasomy 18p: A case report

2020 ◽  
Vol 27 ◽  
pp. e00236
Author(s):  
Yuko Tamaki ◽  
Yukiko Katagiri ◽  
Nahomi Umemura ◽  
Naoki Takeshita ◽  
Mineto Morita
Keyword(s):  
Case Report ◽  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Tetrasomy 18P

Tetrasomy 18p: The challenges of noninvasive prenatal testing and combined test

2018 ◽  
Author(s):  
Gianluca Tolva ◽  
Rosamaria Silipigni ◽  
Aida Quarenghi ◽  
Patrizia Vergani ◽  
Silvana Guerneri ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Tetrasomy 18P ◽  
Combined Test

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.

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.

Jacobsen Syndrome Detected by Noninvasive Prenatal Testing

2015 ◽  
Vol 125 (2) ◽  
pp. 387-389 ◽  
Author(s):  
Jamie O. Lo ◽  
Cori D. Feist ◽  
Jason Hashima ◽  
Brian L. Shaffer
Keyword(s):  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Jacobsen Syndrome

scholarly journals Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Yunsheng Ge ◽  
Jia Li ◽  
Jianlong Zhuang ◽  
Jian Zhang ◽  
Yanru Huang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Copy Number ◽  
Prenatal Testing ◽  
Copy Number Variations ◽  
Trisomy 13 ◽  
Noninvasive Prenatal Testing ◽  
Predictive Values ◽  
Parental Willingness

Abstract Background Noninvasive prenatal testing (NIPT) has been wildly used to screen for common aneuplodies. In recent years, the test has been expanded to detect rare autosomal aneuploidies (RATs) and copy number variations (CNVs). This study was performed to investigate the performance of expanded noninvasive prenatal testing (expanded NIPT) in screening for common trisomies, sex chromosomal aneuploidies (SCAs), rare autosomal aneuploidies (RATs), and copy number variations (CNVs) and parental willingness for invasive prenatal diagnosis in a Chinese prenatal diagnosis center. Methods A total of 24,702 pregnant women were retrospectively analyzed at the Women and Children’s Hospital from January 2013 to April 2019, among which expanded NIPT had been successfully conducted in 24,702 pregnant women. The high-risk expanded NIPT results were validated by karyotype analysis and chromosomal microarray analysis. All the tested pregnant women were followed up for pregnancy outcomes. Results Of the 24,702 cases, successful follow-up was conducted in 98.77% (401/446) of cases with common trisomies and SCAs, 91.95% (80/87) of RAT and CNV cases, and 76.25% (18,429/24,169) of cases with low-risk screening results. The sensitivity of expanded NIPT was 100% (95% confidence interval[CI], 97.38–100%), 96.67%(95%CI, 82.78–99.92%), and 100%(95%CI, 66.37–100.00%), and the specificity was 99.92%(95%CI, 99.87–99.96%), 99.96%(95%CI, 99.91–99.98%), and 99.88% (95%CI, 99.82–99.93%) for the detection of trisomies 21, 18, and 13, respectively. Expanded NIPT detected 45,X, 47,XXX, 47,XXY, XYY syndrome, RATs, and CNVs with positive predictive values of 25.49%, 75%, 94.12%, 76.19%, 6.45%, and 50%, respectively. The women carrying fetuses with Trisomy 21/Trisomy 18/Trisomy 13 underwent invasive prenatal diagnosis and terminated their pregnancies at higher rates than those at high risk for SCAs, RATs, and CNVs. Conclusions Our study demonstrates that the expanded NIPT detects fetal trisomies 21, 18, and 13 with high sensitivity and specificity. The accuracy of detecting SCAs, RATs, and CNVs is still relatively poor and needs to be improved. With a high-risk expanded NIPT result, the women at high risk for common trisomies are more likely to undergo invasive prenatal diagnosis procedures and terminate their pregnancies than those with unusual chromosome abnormalities.

Prenatal Genetic Screening, Epistemic Justice, and Reproductive Autonomy

Hypatia ◽  
2021 ◽  
Vol 36 (1) ◽  
pp. 1-21
Author(s):  
Amber Knight ◽  
Joshua Miller
Keyword(s):  
Prenatal Testing ◽  
Relevant Information ◽  
Medical Professionals ◽  
Reproductive Decisions ◽  
Reproductive Autonomy ◽  
Noninvasive Prenatal Testing ◽  
Epistemic Justice ◽  
Reproductive Decision Making ◽  
Testimonial Injustice ◽  
And Control

AbstractNoninvasive prenatal testing (NIPT) promises to enhance women's reproductive autonomy by providing genetic information about the fetus, especially in the detection of genetic impairments like Down syndrome (DS). In practice, however, NIPT provides opportunities for intensified manipulation and control over women's reproductive decisions. Applying Miranda Fricker's concept of epistemic injustice to prenatal screening, this article analyzes how medical professionals impair reproductive decision-making by perpetuating testimonial injustice. They do so by discrediting positive parental testimony about what it is like to raise a child with DS. We argue that this testimonial injustice constitutes a twofold harm: (1) people with DS and their family members who claim that parenting a child with DS may be a rewarding and joyous experience are harmed when they are systematically silenced, disbelieved, and/or denied epistemic credibility by medical professionals, and (2) pregnant women are harmed since they might make poorly informed choices without access to all relevant information. The broader implication of the analysis is that epistemic justice is a precondition of reproductive autonomy. We conclude by calling for federal oversight of the acquisition and dissemination of information that prospective parents receive following a positive diagnosis of DS to ensure that it is comprehensive and up to date.

scholarly journals Clinical characterization of chromosome 5q21.1–21.3 microduplication: A case report

Open Medicine ◽  
2020 ◽  
Vol 15 (1) ◽  
pp. 1123-1127
Author(s):  
Shuang Chen ◽  
Yang Yu ◽  
Han Zhang ◽  
Leilei Li ◽  
Yuting Jiang ◽  
...  
Keyword(s):  
Case Report ◽  
Microarray Analysis ◽  
Prenatal Testing ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chromosome 5 ◽  
Left Lateral Ventricle ◽  
Pulsed Doppler Ultrasound

AbstractChromosomal microdeletions and microduplications likely represent the main genetic etiologies for children with developmental delay or intellectual disability. Through prenatal chromosomal microarray analysis, some microdeletions or microduplications can be detected before birth to avoid unnecessary abortions or birth defects. Although some microdeletions or microduplications of chromosome 5 have been reported, numerous microduplications remain undescribed. We describe herein a case of a 30-year-old woman carrying a fetus with a chromosome 5q21.1–q21.3 microduplication. Because noninvasive prenatal testing indicated a fetal chromosome 5 abnormality, the patient underwent amniocentesis at 22 weeks 4 days of gestation. Karyotyping and chromosomal microarray analysis were performed on amniotic fluid cells. Fetal behavioral and structural abnormalities were assessed by color and pulsed Doppler ultrasound. Clinical characteristics of the newborn were assessed during the follow-up. The left lateral ventricle appeared widened on ultrasound, but the infant appeared normal at birth. The 5q21.1–q21.3 microduplication in the fetus was inherited from his mother. There are seven genes in this duplication region, but their main functions are unclear. According to this case report, microduplication in this region could represent a benign mutation. Clinicians should pay attention to the breakpoints and the genes involved when counseling patients with microdeletions and microduplications.

Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24h after venipuncture

2013 ◽  
Vol 46 (18) ◽  
pp. 1783-1786 ◽  
Author(s):  
Karen Buysse ◽  
Lean Beulen ◽  
Ingrid Gomes ◽  
Christian Gilissen ◽  
Chantal Keesmaat ◽  
...  
Keyword(s):  
Massively Parallel Sequencing ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Massively Parallel ◽  
Noninvasive Prenatal Testing ◽  
Cell Free Dna ◽  
Parallel Sequencing ◽  
Free Dna ◽  
Circulating Cell Free Dna

scholarly journals Emerging Considerations for Noninvasive Prenatal Testing

2017 ◽  
Vol 63 (5) ◽  
pp. 946-953 ◽  
Author(s):  
Nichole Korpi-Steiner ◽  
Rossa W K Chiu ◽  
Subhashini Chandrasekharan ◽  
Lyn S Chitty ◽  
Mark I Evans ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
Noninvasive Prenatal Testing
Sign in / Sign up

Export Citation Format

Share Document