Positive predictive values and false-positive results in noninvasive prenatal screening

2015 ◽  
Vol 213 (4) ◽  
pp. 595-596 ◽  
Author(s):  
Pe’er Dar ◽  
Susan J. Gross ◽  
Peter Benn
Keyword(s):  
False Positive ◽  
Prenatal Screening ◽  
Predictive Values ◽  
Noninvasive Prenatal Screening ◽  
Positive Results

scholarly journals Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results

2018 ◽  
Vol 20 (11) ◽  
pp. 1472-1476 ◽  
Author(s):  
Karin Huijsdens–van Amsterdam ◽  
Roy Straver ◽  
Merel C van Maarle ◽  
Alida C Knegt ◽  
Diane Van Opstal ◽  
...  
Keyword(s):  
False Positive ◽  
Prenatal Screening ◽  
Noninvasive Prenatal Screening

scholarly journals Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results

2014 ◽  
Vol 16 (8) ◽  
pp. 620-624 ◽  
Author(s):  
Francesca R. Grati ◽  
Francesca Malvestiti ◽  
Jose C.P.B. Ferreira ◽  
Komal Bajaj ◽  
Elisa Gaetani ◽  
...  
Keyword(s):  
False Positive ◽  
Prenatal Screening ◽  
False Negative ◽  
Noninvasive Prenatal Screening

scholarly journals Noninvasive Prenatal Screening Based on Second-Trimester Ultrasonographic Soft Markers in Low-Risk Pregnant Women

2021 ◽  
Vol 12 ◽  
Author(s):  
Yunyun Liu ◽  
Xiaosha Jing ◽  
Lingling Xing ◽  
Sha Liu ◽  
Jianlong Liu ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Prenatal Screening ◽  
Sex Chromosome ◽  
Nasal Bone ◽  
Low Risk ◽  
Trisomy 13 ◽  
Second Trimester ◽  
Predictive Values ◽  
Noninvasive Prenatal Screening ◽  
Hypoplastic Nasal Bone

Background: We aimed to assess the clinical application of noninvasive prenatal screening (NIPS) based on second-trimester ultrasonographic soft markers (USMs) in low-risk pregnant women.Methods: Data of pregnant women between April 2015 and December 2019 were retrospectively analyzed. Pregnant women [age at expected date of confinement (EDC) of <35 years; low risks for trisomy 21 (T21) and trisomy 18 (T18) based on maternal serum screening; presenting second-trimester USMs (7 types)] who successfully underwent NIPS and had available follow-up information were included in our study. Cases with positive NIPS results were prenatally diagnosed. All patients were followed up for 6 months to 2 years after NIPS, and their clinical outcomes were obtained. Subgroup analyses were performed according to the different USMs.Results: NIPS suggested that among a total of 10,023 cases, 37 (0.37%) were at high risk of aneuploidy, including 4 T21, 6 trisomy 13 (T13), and 27 sex chromosome abnormalities (SCA). Ten cases with aneuploidy (0.10%) were confirmed by prenatal diagnosis, consisting of two T21 and eight SCA. The eight fetuses with SCA consisted of one monosomy X, two XXY, one XXXY, one XXX, one XYY, and two mosaicisms. T21 was detected in one fetus with absent or hypoplastic nasal bone and one fetus with echogenic intracardiac focus (EICF). SCA was detected in five fetuses with EICF, two fetuses with multiple soft markers, and one fetus with echogenic bowel. The positive rate of chromosomal aneuploidy was significantly higher in fetuses with absent or hypoplastic nasal bone (6.25 vs. 0.10%, p = 0.017), echogenic bowel (3.7 vs. 0.10%, p = 0.029), and multiple soft markers (0.678 vs. 0.10%, p = 0.045) than in the total fetuses. The positive predictive values (PPVs) of NIPS in these three groups were 100%, 50%, and 100%, respectively. EICF accounted for 93.25% (9,346/10,023) of the study population, whereas the PPV of NIPS was only 20%.Conclusion: NIPS is an advanced screening test for low-risk pregnant women. In the 10,023 pregnant women sampled, SCA were more common than autosomal trisomy, and EICF was the most frequent USM but the least predictive aneuploidy. Further aneuploidy evaluation is suggested for low-risk pregnant women whose ultrasound indicates absent or hypoplastic nasal bone, echogenic bowel, or multiple soft markers. NIPS can serve as a second-line complementary screening for these women.

Is the Remarkable Contradiction between Histology and 14C Urea Breath Test in the Detection of Helicobacter pylori due to False-negative Histology or False-positive 14C Urea Breath Test?

2005 ◽  
Vol 33 (6) ◽  
pp. 632-640 ◽  
Author(s):  
AK Gurbuz ◽  
AM Ozel ◽  
Y Narin ◽  
Y Yazgan ◽  
H Baloglu ◽  
...  
Keyword(s):  
Helicobacter Pylori ◽  
False Positive ◽  
Breath Test ◽  
False Negative ◽  
Urea Breath Test ◽  
Predictive Values ◽  
Urease Test ◽  
H Pylori ◽  
Micro Organisms ◽  
Positive Results

We assessed the diagnostic value of the 14C urea breath test (UBT) in the detection of Helicobacter pylori compared with histology and the rapid urease test (RUT). The study included 68 patients (22 men and 46 women) with dyspeptic symptoms. H. pylori status was evaluated by 14C UBT, RUT and histology. Sensitivity, specificity, positive and negative predictive values, and diagnostic accuracy were determined for 14C UBT and for RUT. Histology revealed dense yeast-like micro-organisms in the biopsy specimens in all patients with false-positive results by 14C UBT (n = 8), a significantly higher proportion than in patients with negative 14C UBT (five of 31). The low specificity of the H. pylori14C UBT should not be neglected by accepting histology results as false-negative. Gastric mucosal colonization by yeast-like micro-organisms with urease activity can account for the high frequency of false-positive results for 14C UBT.

FDG-PET versus Thallium-201 SPECT in the evaluation of putative CNS lymphoma in AIDS patients

2006 ◽  
Vol 24 (18_suppl) ◽  
pp. 1537-1537
Author(s):  
E. Vidan ◽  
L. Kostakoglu ◽  
M. Coleman ◽  
D. Jillapalli ◽  
S. M. Philips ◽  
...  
Keyword(s):  
Pet Imaging ◽  
False Positive ◽  
Fdg Pet ◽  
Brain Lesions ◽  
Cns Lymphoma ◽  
True Positive ◽  
Aids Patients ◽  
Predictive Values ◽  
Positive Results ◽  
Cns Lesions

1537 Background: The evaluation of CNS lesions in AIDS patients is challenging as both CNS lymphoma and non-neoplastic lesions can have similar clinical presentations and imaging findings. Both Tl-201 SPECT and FDG PET imaging have been used to differentiate malignancy from infection. This study investigates the accuracy of FDG PET compared to Tl-201 SPECT in the diagnosis of CNS lymphoma in patients with AIDS-associated CNS lesions. Methods: Nine patients with AIDS who were found to have rim enhancing brain lesions on MRI underwent both Tl-201 SPECT and FDG PET imaging prior to diagnosis. Diagnosis was made by stereotactic brain biopsy in 6 pts and clinical follow-up in the remaining 3. FDG PET of the brain was performed using a dedicated PET/CT instrument (GE Discovery) 1 hour after 444 MBq FDG. Brain SPECT was performed on a dual head gamma camera (GE Hawkeye) with 185 MBq Tl-201. Images were reviewed along with MRI for anatomic correlation by 2 experienced nuclear medicine physicians blinded to the diagnosis. Results: 43 MRI lesions in 9 patients were evaluated. Clinically, 5 pts (18 lesions) were diagnosed with lymphoma (4 biopsy proven, 1 with known history of lymphoma), and 4 pts (25 lesions) were diagnosed with toxoplasmosis (2 with negative biopsies for malignancy, 2 with clinical course consistent with toxoplasmosis). FDG PET had true positive results for lymphoma in 5 of 5 pts, while Tl-201 SPECT was true positive in only 2 of 5. FDG PET had true negative results in 4 of 4 pts with toxoplasmosis, while Tl-201 had false positive results in 2 of 4. FDG PET had positive and negative predictive values of 100%, while Tl-201 SPECT had PPV 50% and NPV 40%. On a lesion basis, PET showed increased uptake of FDG in 8 of 18 brain lesions in patients with lymphoma, while SPECT showed increased uptake of Tl-201 in 4 of 18 lesions. Tl-201 was positive in 2 lesions in patients diagnosed with toxoplasmosis, while FDG had no false positive lesions. Conclusion: In this limited study, FDG PET proved to be superior to Tl-201 SPECT in the differentiation of CNS lymphoma from toxoplasmosis (overall accuracy 100% vs 44%, respectively). With the increasing availability of FDG PET, this test should probably supplant Tl-201 SPECT as the study of choice following conventional imaging (CT, MRI) of CNS lesions in AIDS patients. No significant financial relationships to disclose.

Noninvasive prenatal screening for aneuploidy: positive predictive values based on cytogenetic findings

2015 ◽  
Vol 213 (2) ◽  
pp. 214.e1-214.e5 ◽  
Author(s):  
Jeanne M. Meck ◽  
Elizabeth Kramer Dugan ◽  
Ludmila Matyakhina ◽  
Ayala Aviram ◽  
Carolyn Trunca ◽  
...  
Keyword(s):  
Prenatal Screening ◽  
Predictive Values ◽  
Noninvasive Prenatal Screening

A Novel Test for the Rapid Rule Out of Heparin-Induced Thrombocytopenia Diagnosis in Intensive Care unit patients

Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 1119-1119
Author(s):  
Vassiliki Galea ◽  
Francoise Robert ◽  
Patrick Van Dreden ◽  
Barry J Woodhams ◽  
Grigoris T Gerotziafas ◽  
...  
Keyword(s):  
Intensive Care Unit ◽  
Intensive Care ◽  
Unfractionated Heparin ◽  
Negative Predictive Value ◽  
Predictive Value ◽  
False Positive ◽  
Icu Patients ◽  
Predictive Values ◽  
Heparin Induced Thrombocytopenia ◽  
Positive Results

Abstract Abstract 1119 Introduction Diagnosis of heparin-induced thrombocytopenia (HIT) in intensive care unit (ICU) patients represents a major challenge mainly because both the use of unfractionated heparin and the presence of thrombocytopenia are quite common. Despite the existence of several laboratory tests, accurate and prompt HIT diagnostics remains difficult. The ideal combination of an immunological and a functional test is restrictedto specialized laboratories, due to the complexity of the latter. We are in need of an easy-to-perform, widely accessible, rapid and reliably assay. Aim of the study To prospectively evaluate the performance of the latelar-flow immunoassay STic HIT Expert® (Diagnostica Stago, France) for the detection in ICU patients suspected for HIT. Patients-methods Seventy two patients (40 males/32 females) hospitalized in ICU from January to June 2012 were included. Thirty one patients presented with sepsis, 27 underwent extracorporeal circulation (ECC), 21 were hemodialysed and 3 patients were receiving chemotherapy. Sixty one patients were treated with unfractionated heparin and 11 patients received low molecular weight heparin (LMWH). A 4T's score was performed for all patients. All samples were tested in polyspecific ELISA (Zymutest Hyphen Biomed, Neuville-Sur-Oise, France), STic HIT Expert® (Diagnostica Stago, France) and serotonin release assay. In case of a positive polyspecific ELISA, IgG, IgM et IgA isotypes were also performed. Sensitivity, specificity, positive and negative predictive values (PPV an NPV) of STic HIT Expert® were determined against SRA. Results All three tests (polyspecific ELISA, STic HIT Expert®, SRA) were negative in forty patients and had a low HIT suspicion (4T's score: 0–4). In 10 out of 72 patients polyspecific all immunological tests and SRA were positive and HIT suspicion was intermediate or high (4T's score: 4–7). In 9 patients, ELISA tests and STic HIT Expert® were positive but SRA was negative. These patients had a low HIT suspicion (4T's score: 1–4) and underwent ECC (6 out of 9), were hemodialyzed (3 out of 9) or complicated by sepsis (2 out of 9). On the other hand 13 out of 72 patients had ELISA tests positive but STic HIT Expert® and SRA negative. The prevalence of sepsis was high in these patients (8 out of 13), 3 patients underwent ECC and one patient was hemodialysed. STic HIT Expert®, polyspecific and IgG specific ELISA had an excellent sensitivity and negative predictive value at 100%. Moreover STic HIT Expert® was associated with a smaller number of false positive results than the ELISAs. (Table) Conclusion STic HIT Expert® has an excellent performance with a high negative predictive value (100%) and a satisfactory specificity (85%). Less false positive results are detected with STic HIT Expert® than with polyspecific and IgG specific ELISAs. Moreover the test offers a shorter turnaround than ELISA tests and is an easy-to-use single sample test. These characteristics could help avoid HIT over diagnosis in ICU patients. Disclosures: No relevant conflicts of interest to declare.

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