scholarly journals The application of expanded noninvasive prenatal screening for genome-wide chromosomal abnormalities and genetic counseling

Author(s):  
Yun Chen ◽  
Yunli Lai ◽  
Fuben Xu ◽  
Haisong Qin ◽  
Yanqing Tang ◽  
...  
2021 ◽  
Vol 12 ◽  
Author(s):  
Sha Liu ◽  
Hongqian Liu ◽  
Jianlong Liu ◽  
Ting Bai ◽  
Xiaosha Jing ◽  
...  

BackgroundOur aim was to provide a theoretical basis for clinicians to conduct genetic counseling and choose further prenatal diagnosis methods for pregnant women who failed non-invasive prenatal screening (NIPS).MethodsA retrospective analysis was performed on pregnant women who had failed NIPS tests.ResultsAmong the 123,291 samples, 394 pregnant women did not obtain valid results due to test failures. A total of 378 pregnant women were available for follow-up, while 16 patients were lost to follow-up. Of these 378, 135 pregnant women chose further prenatal diagnosis through amniocentesis, and one case of dysplasia was recalled for postpartum chromosome testing. The incidence rate of congenital chromosomal abnormalities in those who failed the NIPS was 3.97% (15/378), which was higher than that of the chromosomal abnormalities in the common population (1.8%). Among the pregnant women who received prenatal diagnosis, the positive rates of chromosomal abnormalities in the chromosomal microarray analysis/copy number variation sequencing (CMA/CNV-seq) group and in the karyotyping group were 15.28 and 4.76%, respectively.ConclusionPrenatal diagnosis should be strongly recommended in posttest genetic counseling for pregnant women with NIPS failures. Further, high-resolution detection methods should be recommended for additional prenatal diagnoses.


2020 ◽  
Vol 22 (12) ◽  
pp. 1944-1955
Author(s):  
Nicola Jane Flowers ◽  
Trent Burgess ◽  
Olivia Giouzeppos ◽  
Grace Shi ◽  
Clare Jane Love ◽  
...  

Author(s):  
Aishwarya Arjunan ◽  
Rotem Ben-Shachar ◽  
Jamie Kostialik ◽  
Katherine Johansen Taber ◽  
Gabriel Lazarin ◽  
...  

Background: As noninvasive prenatal screening usage grows in the general obstetrics setting, proper patient education on the screen’s benefits and limitations is needed. Objective: Describe the use of a technology platform designed for large-scale dissemination of noninvasive prenatal screening information and results. Study Design: The technology platform functioned as follows: Patients were emailed a link to an noninvasive prenatal screening general-education video upon laboratory receipt of a test requisition. Providers were then notified upon availability of patients’ results. If noninvasive prenatal screening results were negative, the patient was sent an automated email with instructions to access results through a secure portal where she could watch tailored informational videos, request “on-demand” or scheduled genetic counseling, or decline any further services. If genetic counseling was elected, a summary of the session was sent to the ordering provider and patient upon completion. If noninvasive prenatal screening results were positive, either the ordering provider or a board-certified genetic counselor contacted the patient directly to communicate test results and provide counseling. The number and type of results issued through the platform, the number and type of genetic counseling consultations completed, and factors associated with requesting laboratory-delivered genetic counseling were tracked and analyzed for a 39-month period. Results: Over the study period, 67,122 noninvasive prenatal screening results were issued through the platform, and 4,673 patients elected genetic counseling consultations; 95.2% (n=4,450) of consultations were for patients receiving negative results. Over 70% (n= 3,370) of consultations were on-demand rather than scheduled. Median consultation time was 14 minutes for positive results and six minutes for negative results. A positive screen, advanced maternal age, family history, previous history of a pregnancy with a chromosomal abnormality, and other high-risk pregnancy were associated with the greatest odds of electing laboratory-delivered genetic counseling.Conclusions: By combining web education, automated notifications, and genetic counseling, we implemented a service that effectively facilitates results disclosure for ordering providers. These data demonstrate the capability to deliver noninvasive prenatal screening results, education, and counseling—congruent with management guidelines—to a large population, which is imperative to quality care as uptake increases.


Author(s):  
Noah C. Welker ◽  
Albert K. Lee ◽  
Rachel A. S. Kjolby ◽  
Helen Y. Wan ◽  
Mark R. Theilmann ◽  
...  

Abstract Purpose The percentage of a maternal cell-free DNA (cfDNA) sample that is fetal-derived (the fetal fraction; FF) is a key driver of the sensitivity and specificity of noninvasive prenatal screening (NIPS). On certain NIPS platforms, >20% of women with high body mass index (and >5% overall) receive a test failure due to low FF (<4%). Methods A scalable fetal fraction amplification (FFA) technology was analytically validated on 1264 samples undergoing whole-genome sequencing (WGS)–based NIPS. All samples were tested with and without FFA. Results Zero samples had FF < 4% when screened with FFA, whereas 1 in 25 of these same patients had FF < 4% without FFA. The average increase in FF was 3.9-fold for samples with low FF (2.3-fold overall) and 99.8% had higher FF with FFA. For all abnormalities screened on NIPS, z-scores increased 2.2-fold on average in positive samples and remained unchanged in negative samples, powering an increase in NIPS sensitivity and specificity. Conclusion FFA transforms low-FF samples into high-FF samples. By combining FFA with WGS–based NIPS, a single round of NIPS can provide nearly all women with confident results about the broad range of potential fetal chromosomal abnormalities across the genome.


2021 ◽  
Author(s):  
Fergus Scott ◽  
Maria‐Elisabeth Smet ◽  
Tristan Hardy ◽  
Samantha Sundercombe ◽  
Michael Friedlander ◽  
...  

2020 ◽  
Author(s):  
Noah C Welker ◽  
Albert K Lee ◽  
Rachel AS Kjolby ◽  
Helen Y Wan ◽  
Mark R Theilmann ◽  
...  

Purpose The percentage of a maternal cell-free DNA (cfDNA) sample that is fetal-derived (the fetal fraction; FF) is a key driver of the sensitivity and specificity of noninvasive prenatal screening (NIPS). On certain NIPS platforms, >20% of women with high body-mass index (and >5% overall) receive a test failure due to low FF (<4%). Methods A scalable fetal-fraction amplification (FFA) technology was analytically validated on 1,264 samples undergoing whole-genome sequencing (WGS)-based NIPS. All samples were tested with and without FFA. Results Zero samples had FF<4% when screened with FFA, whereas 1 in 25 of these same patients had FF<4% without FFA. The average increase in FF was 3.9-fold for samples with low FF (2.3-fold overall) and 99.8% had higher FF with FFA. For all abnormalities screened on NIPS, z-scores increased 2.2-fold on average in positive samples and remained unchanged in negative samples, powering an increase in NIPS sensitivity and specificity. Conclusions FFA transforms low-FF samples into high-FF samples. By combining FFA with WGS-based NIPS, a single round of NIPS can provide nearly all women with confident results about the broad range of potential fetal chromosomal abnormalities across the genome.


Author(s):  
Е.А. Калашникова ◽  
Е.Н. Андреева ◽  
П.А. Голошубов ◽  
Н.О. Одегова ◽  
Е.В. Юдина ◽  
...  

В ходе анализа результатов раннего пренатального скрининга (РПС) в России за 2018 г. (Аудит-2019) дана оценка качества мероприятий, общей эффективности и тенденций развития системы РПС в субъектах РФ посредством сравнения рассчитанных основных организационных, методологических и интегральных показателей с международными референтными значениями. In the course of analyzing the results of early prenatal combined first-trimester screening (FTS) in Russia for 2018 (Audit-2019) the assessment of the quality of measures, the overall effectiveness and trends in the development of the FTS system in the regions of Russia. They are presented by comparing the calculated main organizational, methodological and integral indicators with international reference values.


Author(s):  
Rocío Cabra-Rodríguez ◽  
Guadalupe Bueno Rodríguez ◽  
Cristina Santos Rosa ◽  
Miguel Ángel Castaño López ◽  
Sonia Delgado Muñoz ◽  
...  

AbstractObjectivesNon-invasive prenatal screening (NIPS) is a test for the detection of major fetal chromosomal abnormalities in maternal blood during pregnancy. The purpose of this study was to assess the performance of NIPS implemented within the framework of the Screening Program for Congenital Abnormalities of the Andalusian Health System.MethodsA retrospective observational study was undertaken to determine the number of NIPS tests performed since its introduction. The number of invasive diagnostic tests done after the implementation of NIPS in the patients included in the program between March 2016 and August 2017 was also quantified.ResultsA total of 6,258 combined first- and second trimester screening tests were performed, covering 95% of the population. In total, 250 subjects were identified as high risk, of whom 200 underwent NIPS after loss to follow-up. NIPS showed a sensitivity of 100% (95% CI: 76.84–100%) and a specificity of 99.46% (95% CI: 97.04–99.99%).ConclusionsThis test has proven to have a very high sensitivity and specificity. The results obtained demonstrate that the incorporation of NIPS in clinical practice minimizes the rate of miscarriages and reduces the frequency of invasive procedures by 70%.


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