scholarly journals The Optimal Cutoff Value of Z-scores Enhances the Judgment Accuracy of Noninvasive Prenatal Screening

2021 ◽  
Vol 12 ◽  
Author(s):  
Lingna Zhou ◽  
Bin Zhang ◽  
Jianbing Liu ◽  
Ye Shi ◽  
Jing Wang ◽  
...  

ObjectiveTo evaluate the accuracy of Z-scores of noninvasive prenatal screening (NIPS) in predicting 21, 18 trisomy, and X chromosome aneuploidy.MethodsA total of 39,310 prenatal women were recruited for NIPS from September 2015 to September 2020. Interventional prenatal diagnosis was applied to verify the diagnosis of NIPS-positive results. Logistic regression analysis was employed to relate the Z-scores to the positive predictive value (PPV) of NIPS-positive results. Using receiver operating characteristic (ROC) curves, we calculated the optimal cutoff value of Z-scores to predict fetal chromosome aneuploidy. According to the cutoff value, NIPS-positive results were divided into the medium Z-value (MZ) and high Z-value (HZ) groups, and PPV was calculated to access the accuracy of Z-scores.ResultsA total of 288 effective values of Z-scores were used as the final data set. The logistics regression analysis revealed that Z-scores were significantly associated with true-positive results for 21 trisomy (T21) and 18 trisomy (T18) (P < 0.05), whereas the same was not observed for X chromosome aneuploids (P > 0.05). The optimal cutoff value of the Z-score for T21, T18, XO, XXX, and XXY indicated by ROC curve analysis were 5.79, 6.05, −9.56, 5.89, and 4.47, and the area under the curve (AUC) were 0.89, 0.80, 0.48, 0.42, and 0.45, respectively. PPV in the HZ group was higher than that in the MZ group, and the application of the cutoff value reduced the false discovery rate (FDR), which was only 2.9% in the HZ group compared with 61.1% in the MZ group for T21 and T18. The difference in total PPV between the MZ and HZ groups for X chromosome aneuploids was statistically significant. Moreover, the PPV for XXX and XXY seemed to increase with Z-scores but not for XO.ConclusionThe Z-score is helpful for the accurate judgment of NIPS results and for clinical prenatal counseling. Especially for T21 and T18, Z-scores have an excellent clinical association, which is superior to that seen with X chromosome aneuploids. In addition, using Z-scores to judge NIPS results offers a certain reference value for XXX and XXY but not for XO.

2021 ◽  
Author(s):  
Likui Fang ◽  
Wenfeng Yu ◽  
Guocan Yu ◽  
Bo Ye ◽  
Gang Chen

Abstract Background The effects of matrix metalloproteases (MMPs) and tissue inhibitors of metalloproteinases (TIMPs) expressions on the patients with constrictive pericarditis undergoing pericardiectomy remain unclear. This study explored the associations of MMPs and TIMPs expressions with postoperative outcomes in these patients. Methods Pericardial specimens were obtained during pericardiectomy from the patients with constrictive pericarditis. The levels of MMP1, MMP2, MMP9 and TIMP1 in pericardium were analyzed by quantitative real-time polymerase chain reaction. The enrolled patients were divided into two groups according to the optimal cutoff value of gene expression predicting postoperative complications. Postoperative outcomes were compared between the two groups. Binary logistic regression analysis was performed to determine the degree of contribution of gene expression on postoperative outcomes. Results A total of 22 patients and their pericardial specimens were included. The level of MMP9 was significantly associated with postoperative complications and the optimal cutoff value predicting postoperative complications was 3.67. The patients with low level of MMP9 (< 3.67) had lower incidence of postoperative complications (P = 0.002), shorter postoperative intensive care unit (P = 0.040) and hospital stay (P = 0.043) in comparison to those with high level of MMP9 (≥ 3.67). Binary logistic regression analysis showed that high level of MMP9 increased risk of postoperative complications (OR, 27.096, 95%CI 1.166-629.886, P = 0.040). Conclusions High level of MMP9 in the pericardium was associated with poor postoperative outcomes and was the independent risk factor of postoperative complications. The level of MMP9 could be used as a potential marker for prediction of surgical outcomes.


Author(s):  
Carolyn Cairncross ◽  
Victor Obolonkin ◽  
Tara Coppinger ◽  
Elaine Rush

Abstract Background Since 2004, Sport Waikato has delivered Project Energize, a through-school nutrition and physical activity program to primary schools in the Waikato. As part of the program’s continued assessment and quality control, the programme was evaluated in 2011 and 2015. This paper’s aim was to compare the cardiorespiratory fitness (time to run 550 m (T550)) levels of children participating in Project Energize in 2011 and 2015. Methods In the 2011 evaluation of Project Energize, gender specific- T550-for-age Z scores (T550AZ) were derived from the T550 of 4832 Waikato children (2527 girls; 2305 boys; 36% Māori) aged between 6 and 12 years. In 2015, T550 was measured for 4798 (2361 girls; 2437 boys; 32% Māori) children, representative of age, gender and school socioeconomic status (SES). The T550AZ for every child in the 2015 study and 2011 evaluation were derived and differences in T550 between 2015 and 2011 by gender, SES and age were determined using independent t-tests. Multiple regression analysis predicted T550 Z score and run time, using year of measurement, gender, ethnicity, age and school SES. Results With and without adjustment, children in 2015 ran 550 m faster than in 2011 (adjusted Z score 0.06, time 11 s). Specifically, girls ran at a similar speed in 2015 as 2011 but boys were faster than in 2011 (Z score comparison P < 0.001, mean difference 0.18 95%CI 0.12, 0.25). Regression analysis showed time taken to run 550 m was 11 s less in 2015 compared with 2011. Boys ran it 13 s faster than girls (Z score 0.07) and for each 1 year age increase, children were 8 s slower (Z score 0.006). For each 10% decrease in SES, children were 3 s slower (Z score 0.004) and Māori children were 5 s slower than Non-Māori children (Z score 0.15). Conclusions The findings from this study support the continuation of the delivery of Project Energize in the Waikato region of New Zealand, as cardiorespiratory fitness scores in 2015, compared to 2011, were improved, particularly for lower SES schools and for Māori children. Ethnically diverse populations, schools with higher deprivation and girls, continue to warrant further attention to help achieve equity.


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.


2021 ◽  
pp. 238008442110021
Author(s):  
O.O. Olatosi ◽  
A.A. Alade ◽  
T. Naicker ◽  
T. Busch ◽  
A. Oyapero ◽  
...  

Introduction: Malnutrition in children is one of the most prevalent global health challenges, and malnourished children have a higher risk of death from childhood diseases. Early childhood caries (ECC) is the most common chronic disease of childhood. Complications from ECC such as pain, loss of tooth/teeth, and infection can undermine a child’s nutrition and growth. Aim: This study aims to evaluate the severity of decay, missing, and filled tooth (dmft) by nutritional status using the z scores of the anthropometric measurements: height for age (HFA), weight for age (WFA), weight for height (WFH), and body mass index for age (BMIA) among children with ECC in Nigeria. Study Design: This is a cross-sectional study conducted in 5 local government areas (LGAs) in Lagos State, Nigeria. A multistage sampling technique was used. Results: A total of 273 cases of ECC were included in the analyses (mean age 4.19 ± 0.96 y). Overall, the mean dmft was 3.04 ± 2.28, and most (96%) were accounted for by untreated decay. The distribution of dmft within the different z score categories of BMIA (<–3 = severely wasted, –2 to –3 = wasted, –2 to +2 = normal, +2 to +3 = overweight and >+3 = obese) showed the highest dmft scores among the combined severely wasted and wasted groups, lowest among children with normal z scores, and intermediate in the overweight and obese groups. There was a significant negative correlation between BMIA z score, WFH z score, and dmft ( r = −0.181, P < 0.05 and r = −0.143, P < 0.05, respectively). However, the correlations between HFA z score, WFA z score, and dmft were positive but not significant ( r = 0.048, P = 0.44 and r = 0.022, P = 0.77, respectively). Conclusion: Our study showed an increased severity of dental caries among severely wasted or wasted children with ECC compared to those of normal or overweight. Knowledge Transfer Statement: The results from this study will raise awareness among clinicians and policy makers on the need for a primary prevention program for early childhood caries in countries with high burden of malnutrition and limited resources. Also, it will help draw the attention of clinicians to the caries status of malnourished children that can be managed to improve the nutritional outcomes.


2017 ◽  
Vol 50 (6) ◽  
pp. 1701659 ◽  
Author(s):  
Myrofora Goutaki ◽  
Florian S. Halbeisen ◽  
Ben D. Spycher ◽  
Elisabeth Maurer ◽  
Fabiën Belle ◽  
...  

Chronic respiratory disease can affect growth and nutrition, which can influence lung function. We investigated height, body mass index (BMI), and lung function in patients with primary ciliary dyskinesia (PCD).In this study, based on the international PCD (iPCD) Cohort, we calculated z-scores for height and BMI using World Health Organization (WHO) and national growth references, and assessed associations with age, sex, country, diagnostic certainty, age at diagnosis, organ laterality and lung function in multilevel regression models that accounted for repeated measurements.We analysed 6402 measurements from 1609 iPCD Cohort patients. Height was reduced compared to WHO (z-score −0.12, 95% CI −0.17 to −0.06) and national references (z-score −0.27, 95% CI −0.33 to −0.21) in male and female patients in all age groups, with variation between countries. Height and BMI were higher in patients diagnosed earlier in life (p=0.026 and p<0.001, respectively) and closely associated with forced expiratory volume in 1 s and forced vital capacity z-scores (p<0.001).Our study indicates that both growth and nutrition are affected adversely in PCD patients from early life and are both strongly associated with lung function. If supported by longitudinal studies, these findings suggest that early diagnosis with multidisciplinary management and nutritional advice could improve growth and delay disease progression and lung function impairment in PCD.


1995 ◽  
Vol 44 (3-4) ◽  
pp. 169-178 ◽  
Author(s):  
B. Luke ◽  
S. Leurgans ◽  
L. Keith ◽  
D. Keith

AbstractThe objective of this study was to assess the childhood growth of twin children in terms of the effects of intrauterine growth retardation (IUGR) and discordancy at birth on the incidence and severity of stunting and discordancy in current height and weight. The study was part of a cross-sectional field project conducted at the Annual Twins Days Festival in Twinsburg. Ohio, USA, during 1990, 1991, and 1993, and including all twin children between 2 and 12 years of age. Mothers of twins were interviewed regarding their children's birthweights and gestational age; the twin children were measured for their current heights and weights. The study population included 990 twin children, including 555 boys and 435 girls, of which there were 254 boy pairs and 194 girl pairs. Birthweight for gestational age and current weight and height were each converted into Z-scores and characterized as severe (Z-score <−2,0), or moderate IUGR or stunting (Z-score > −2.0 and < −1.2). For the present study discordancy in birthweight, and current height and weight was calculated for like-gender twin pairs. Only twin children with severe IUGR at birth showed an increased risk of stunting in their current height or weight, and this risk was only for moderate, not severe, stunting. Boy twins with severe IUGR at birth were at increased risk of moderate stunting in their current weight (OR 2.67, 95% CI 1.55, 4.58, P = 0.002), while girl twins with severe IUGR at birth were at increased risk of moderate stunting in their current height (OR 4,09, 95% CI 1.49, 10.99, p = 0.003). Among like-gender twin pairs, there were no differences in mean or categories of birthweight or current weight discordancy, but boy twin pairs did show a significantly greater proportion of current weight discordancy compared to girl twin pairs (p = 0.005). Overall, there was a significant tendency for differences in height and weight between like-gender twin pairs to disappear over time, with the effect being greater for boy twin pairs. We conclude from these findings that twin children tend to overcome growth retardation and discordancy present at birth, and although children who had severe IUGR or discordancy at birth were more likely to have some residual moderate stunting or discordancy in height or weight, they still tended to be within normal values for their gender and current age.


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