scholarly journals Non-invasive Prenatal Testing, What Patients Do Not Learn, May Be Due to Lack of Specialist Genetic Training by Gynecologists and Obstetricians?

2021 ◽  
Vol 12 ◽  
Author(s):  
Thomas Liehr
Keyword(s):  
False Negative ◽  
Prenatal Testing ◽  
Test Results ◽  
Highly Qualified ◽  
Genetic Condition ◽  
Specialty Area ◽  
The Public ◽  
Non Invasive ◽  
Before And After ◽  
Numerical Aberrations

Platforms for “non-invasive prenatal testing” (NIPT), or also referred to as “non-invasive prenatal screening” (NIPS) have been available for over 10 years, and are the most recent tools available to obtain information about genetic condition(s) of an unborn child. The highly praised advantage of NIPT-screening is that results can provide early hints on the detection of fetal trisomies and gonosomal numerical aberrations as early as the 10th week of gestation onward, without any need for invasive procedures, such as amniocenteses or alternatives. Understandably, the public along with gynecologists and obstetricians eagerly await these early test results. Their general hope for normal (=negative) test results is also justified, as in >95% of the tested cases such an outcome is to be expected. However, pregnant women can be disappointed and confused, particularly regarding the genetic information and proposed care when the results are positive, and these emotions are also common with false-positive and false-negative NIPT results. Finally, such concerns in understanding the advantages and limitations of this routinely ordered screening tool end up at Clinical Geneticists and Genetic counselors. In this review, general background on NIPT, differences of NIPT platforms, advantages and limitations of NIPT, as well as consequences of insufficient counseling before and after NIPT are summarized. To provide comprehensive care in all pregnancies situations, professionals need a careful attitude toward offering NIPT along with specially training and qualifications in counseling for these procedures. Often it is gynecologists and obstetricians who discuss the use of NIPT with patients; however, although these physicians have a highly qualified background and knowledge in their respective specialty area(s), they may lack specific training on the interpretation of NIPT-screening results. These potential knowledge gaps must be closed quickly and comprehensively by the corresponding scientific societies to ensure optimal patient care.

scholarly journals Sequencing Shorter cfDNA Fragments Decreases the False Negative Rate of Non-invasive Prenatal Testing

2020 ◽  
Vol 11 ◽  
Author(s):  
Ying Xue ◽  
Guodong Zhao ◽  
Longwei Qiao ◽  
Jiafeng Lu ◽  
Bin Yu ◽  
...  
Keyword(s):  
False Negative ◽  
False Negative Rate ◽  
Prenatal Testing ◽  
Non Invasive ◽  
Negative Rate

scholarly journals Women’s Experience with Non-Invasive Prenatal Testing and Emotional Well-being and Satisfaction after Test-Results

2017 ◽  
Vol 26 (6) ◽  
pp. 1348-1356 ◽  
Author(s):  
Rachèl V. van Schendel ◽  
◽  
G. C. M. Lieve Page-Christiaens ◽  
Lean Beulen ◽  
Caterina M. Bilardo ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
Well Being ◽  
Test Results ◽  
Non Invasive ◽  
Women's Experience

scholarly journals Cell-free DNA screening for aneuploidies in 7113 pregnancies: single Italian centre study

2020 ◽  
Vol 102 ◽  
Author(s):  
Alvaro Mesoraca ◽  
Katia Margiotti ◽  
Claudio Dello Russo ◽  
Anthony Cesta ◽  
Antonella Cima ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Clinical Performance ◽  
False Negative ◽  
Prenatal Testing ◽  
High Sensitivity ◽  
Trisomy 13 ◽  
Sequencing Platform ◽  
Non Invasive ◽  
Negative Results ◽  
False Negative Results

Abstract Introduction Non-invasive prenatal testing (NIPT) using cell-free foetal DNA has been widely accepted in recent years for detecting common foetal chromosome aneuploidies, such as trisomies 13, 18 and 21, and sex chromosome aneuploidies. In this study, the practical clinical performance of our foetal DNA testing was evaluated for analysing all chromosome aberrations among 7113 pregnancies in Italy. Methods This study was a retrospective analysis of collected NIPT data from the Ion S5 next-generation sequencing platform obtained from Altamedica Medical Centre in Rome, Italy. Results In this study, NIPT showed 100% sensitivity and 99.9% specificity for trisomies 13, 18 and 21. Out of the 7113 samples analysed, 74 cases (1%) were positive by NIPT testing; foetal karyotyping and follow-up results validated 2 trisomy 13 cases, 5 trisomy 18 cases, 58 trisomy 21 cases and 10 sex chromosome aneuploidy cases. There were no false-negative results. Conclusion In our hands, NIPT had high sensitivity and specificity for common chromosomal aneuploidies such as trisomies 13, 18 and 21.

scholarly journals Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Marco La Verde ◽  
Luigia De Falco ◽  
Annalaura Torella ◽  
Giovanni Savarese ◽  
Pasquale Savarese ◽  
...  
Keyword(s):  
Dna Sequencing ◽  
Retrospective Analysis ◽  
False Negative ◽  
Screening Method ◽  
Prenatal Testing ◽  
Maternal Blood ◽  
Cell Free Dna ◽  
Detection Rates ◽  
Non Invasive ◽  
Free Dna

Abstract Background This paper describes the clinical practice and performance of cell-free DNA sequencing-based non-invasive prenatal testing (NIPT) as a screening method for fetal trisomy 21, 18, and 13 (T21, T18, and T13) and sex chromosome aneuploidies (SCA) in a general Italian pregnancy population. Methods The AMES-accredited laboratory offers NIPT in maternal blood as a screening test for fetal T21, T18, T13 and SCA. Samples were sequenced on a NextSeq 550 (Illumina) using the VeriSeq NIPT Solution v1 assay. Results A retrospective analysis was performed on 36,456 consecutive maternal blood samples, including 35,650 singleton pregnancies, 800 twin pregnancies, and 6 triplet pregnancies. Samples were tested between April 2017 and September 2019. The cohort included 46% elevated-risk and 54% low-risk patients. A result indicative of a classic trisomy was found in 356 (1%) of singleton or twin samples: 254 T21, 69 T18, and 33 T13. In addition, 145 results (0.4%) were indicative of a SCA. Of the combined 501 screen-positive cases, 484 had confirmatory diagnostic testing. NIPT results were confirmed in 99.2% (247/249) of T21 cases, 91.2% (62/68) of T18 cases, 84.4% (27/32) of T13 cases, and 86.7% (117/135) of SCA cases. In the 35,955 cases reported as unaffected by a classic trisomy or SCA, no false negative cases were reported. Assuming that false negative results would be reported, the sensitivity of NIPT was 100.00% for T21 (95% Cl 98.47–100.0), T18 (95% Cl 94.17–100.0), and T13 (95% Cl 87.54–100.0). The specificities were 99.99% (95% Cl 99.98–100.0), 99.98% (95% Cl 99.96–100.0), 99.99% (95% Cl 99.97–100.0), and 99.95% (95% Cl 99.92–99.97) for T21, T18, T13, and SCA, respectively. Conclusion This retrospective analysis of a large cohort of consecutive patients who had whole-genome sequencing-based NIPT for classic trisomies and SCA shows excellent detection rates and low false positive rates.

scholarly journals Performance of non-invasive prenatal testing for foetal chromosomal abnormalities in 1048 twin pregnancies

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Yuan Cheng ◽  
Xinran Lu ◽  
Junxiang Tang ◽  
Jingran Li ◽  
Yuxiu Sun ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
False Negative ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Clinical Value ◽  
Non Invasive ◽  
Negative Results ◽  
Negative Case ◽  
Twin Pregnancies

Abstract Objective To investigate the clinical value of non-invasive prenatal testing (NIPT) to screen for chromosomal abnormalities in twin pregnancies and to provide further data on NIPT manifestations in twin pregnancies. Materials and methods In a 4-year period, 1048 women with twin pregnancies were voluntarily prospectively tested by NIPT to screen for chromosomal abnormalities by sequencing cell-free foetal DNA (cffDNA) in maternal plasma. Positive NIPT results were confirmed by karyotyping, while negative results were followed up 42 days after delivery. Results Thirteen women had positive NIPT results as follows: 2 cases of trisomy 21 (T21), 1 of trisomy 18 (T18), 7 of sex chromosome aneuploidy (SCA), 1 of microdeletion, and 2 of microduplication. Of these 13 cases, 2 were true-positive cases confirmed by foetal karyotype analysis, namely, 1 case of T21 and 1 of microdeletion. Furthermore, the remaining 11 high-risk pregnant women were confirmed as false positive by foetal karyotyping. Thus, the combined positive predictive value (PPV) of NIPT screening for chromosomal abnormalities in twin pregnancies was 15.4% (2/13). There were no false-negative case via our follow-up results. Conclusion Safe and rapid NIPT has a certain clinical application value; however, the PPV is limited, and the screening efficiency is not stable. Careful use should be made in the screening of chromosomal abnormalities in twin pregnancies.

scholarly journals The Study of Ranitidine Interference With Morphine Detection Test by Thin-Layer Chromatography

2018 ◽  
Vol 6 (1) ◽  
pp. 21-23
Author(s):  
Amir Miri ◽  
Amir Karami ◽  
Fourogh Nadi ◽  
Fatemeh Zeraati
Keyword(s):  
Thin Layer ◽  
Thin Layer Chromatography ◽  
Drugs Of Abuse ◽  
False Negative ◽  
Urine Samples ◽  
Urine Drug Screen ◽  
Test Results ◽  
Two Samples ◽  
Before And After ◽  
Layer Chromatography

Background: Drug abuse is a global and critical problem. One of the most frequent practices done in order to detect the drugs of abuse is Urine Drug Screen. However, for changing the drug test results, adulterants and urine substitutes are being designed. As the referring people’s background has shown, ranitidine is one of the interfering drugs in morphine detection test. Therefore, in the present study, the interference of ranitidine in morphine detection test will be studied. Methods: Ten healthy volunteers who had not used any kind of drug for 72 hours before the test were recruited into the study. First, 2 doses of ranitidine (150 and 300 mg) were administered to the subjects orally and 100-mL urine samples were collected from them before and after taking ranitidine. The second urine sample was collected at 6-8 am. Ten micrograms morphine was added to both urine samples of each individual. The urine samples were tested using thin-layer chromatography (TLC) technique. The experiment was repeated after 1 week using ranitidine 300 mg. Results: The TLC test was carried out on 40 urine samples. Twenty samples were tested before and, the rest, after ranitidine consumption. The TLC test results were positive before ranitidine consumption but negative for 18 samples and positive for two samples after taking ranitidine. Conclusion: Ranitidine may change the urine morphine screening test results via TLC method and induce a false negative result.

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