Noninvasive Prenatal Testing and Noninvasive Prenatal Screening

2022 ◽  
pp. 235-248
Author(s):  
Charles M. Strom
Keyword(s):  
Prenatal Screening ◽  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Noninvasive Prenatal Screening

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.

scholarly journals Result of Prospective Validation of the Trisomy Test® for the Detection of Chromosomal Trisomies

Diagnostics ◽  
2019 ◽  
Vol 9 (4) ◽  
pp. 138 ◽  
Author(s):  
Sekelska ◽  
Izsakova ◽  
Kubosova ◽  
Tilandyova ◽  
Csekes ◽  
...  
Keyword(s):  
Prospective Study ◽  
Pregnant Women ◽  
Genome Sequencing ◽  
Prenatal Screening ◽  
Prenatal Testing ◽  
Screening Tests ◽  
Whole Genome ◽  
Noninvasive Prenatal Testing ◽  
Bioinformatic Pipeline ◽  
Low Coverage

Noninvasive prenatal testing (NIPT) is one of the most common prenatal screening tests used worldwide. Trisomy Test® belongs to NIPT tests based on low-coverage whole-genome sequencing. In our prospective study, 7279 samples of pregnant women collected during approximately two years were analyzed. In this cohort, 117 positive cases for trisomies 21, 18, and 13 were reported. An in-house designed bioinformatic pipeline and proprietary biostatistical approach was used for the detection of trisomies. The pooled sensitivity and specificity of our test reached 99.12% and 99.94%, respectively. The proportion of repeatedly uninformative results after repeated blood draws was 1.11%. Based on the presented results, we can confirm that the Trisomy Test® is fully comparable with other commercial NIPT tests available worldwide.

scholarly journals Prenatal screening diagnosis and management in the era of coronavirus: the Sardinian experience

2020 ◽  
Vol 48 (9) ◽  
pp. 943-949 ◽  
Author(s):  
Giovanni Monni ◽  
Valentina Corda ◽  
Ambra Iuculano
Keyword(s):  
Prenatal Screening ◽  
Ethical Issues ◽  
Prenatal Testing ◽  
World Health ◽  
State Of Emergency ◽  
Noninvasive Prenatal Testing ◽  
The North ◽  
Global Pandemic ◽  
Slight Rise ◽  
Health Organization

AbstractSevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a new coronavirus, was first identified in December 2019 in Wuhan, China and spread rapidly, affecting many other countries. The disease is now referred to as coronavirus disease 2019 (COVID-19).The Italian government declared a state of emergency on 31st January 2020 and on 11th March World Health Organization (WHO) officially declared the COVID-19 outbreak a global pandemic. Although the COVID-19 incidence remained considerably lower in Sardinia than in the North Italy regions, which were the most affected, the field of prenatal screening and diagnosis was modified because of the emerging pandemic. Data on COVID-19 during pregnancy are so far limited. Since the beginning of the emergency, our Ob/Gyn Department at Microcitemico Hospital, Cagliari offered to pregnant patients all procedures considered essential by the Italian Ministry of Health. To evaluate the influence of the COVID-19 pandemic on the activities of our center, we compared the number of procedures performed from 10th March to 18th May 2020 with those of 2019. Despite the continuous local birth rate decline, during the 10-week pandemic period, we registered a 20% increment of 1st trimester combined screening and a slight rise of the number of invasive prenatal procedures with a further increase in chorionic villi sampling compared to amniocentesis. Noninvasive prenatal testing remained unvariated. The request for multifetal pregnancy reduction as a part of the growing tendency of voluntary termination of pregnancy in Sardinia increased. The COVID-19 pandemic provides many scientific opportunities for clinical research and study of psychological and ethical issues in pregnant women.

Indications for Invasive Prenatal Testing before and after Noninvasive Prenatal Screening

2017 ◽  
Vol 34 (11) ◽  
pp. 1084-1087 ◽  
Author(s):  
Tracy Prosen ◽  
Lisa Gill
Keyword(s):  
Genetic Testing ◽  
Genetic Screening ◽  
Medical Records ◽  
Prenatal Screening ◽  
Single Gene ◽  
Prenatal Testing ◽  
Diagnostic Procedures ◽  
Noninvasive Prenatal Screening ◽  
Testing Procedures ◽  
Before And After

Objective To evaluate changes in indications for genetic testing after introduction of noninvasive prenatal screening (NIPS) into a single center. Pregnancy outcomes and results of testing were evaluated. Study Design It was a retrospective cohort study. Medical records were reviewed for all invasive testing procedures from January 1, 2007, to December 31, 2015. NIPS was introduced in February 1, 2012. Indications were compared before and after that date. Results of genetic testing and pregnancy outcome were also obtained from the medical records where available. Results A total of 2,066 invasive diagnostic procedures were performed. Significantly fewer invasive procedures were performed per month following introduction of NIPS (23 vs. 13). Indications were less likely to be reported as advanced maternal age (AMA), abnormal genetic screening, and abnormal ultrasound findings following introduction of NIPS (p < 0.0001). No difference was noted for parental chromosome abnormality, risk of single-gene disorder, or prior child with aneuploidy. Tests performed after introduction of NIPS were more likely abnormal (16.3 vs. 27.6%; p < 0.0001).Total number of pregnancy terminations decreased (130 vs. 123); more were terminated after prenatal diagnosis following NIPS introduction (12.9 vs. 30.1%). Conclusion Since the introduction of NIPS, fewer invasive tests are performed. Indications have changed since NIPS was introduced, becoming less common for AMA, abnormal genetic screening, and abnormal ultrasounds.

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.

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