Quality control of ultrasonography markers for Down’s syndrome screening: a retrospective study by the laboratory

Diagnosis ◽  
2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Blanca Badal ◽  
Antonieta Ballesteros ◽  
Miriam Crespo ◽  
Daniel Morell-Garcia ◽  
Josep Miquel Bauçà ◽  
...  

Abstract Objectives Quality control of ultrasonography markers is necessary to ensure greater efficacy of prenatal aneuploidy screening. The aim of this study was to assess the quality of the crown-rump length (CRL) and nuchal translucence (NT) measurement accuracy by the laboratory according to quality indicators. Methods Retrospective observational study on 4,908 single-foetus pregnant women who underwent prenatal aneuploidy screening in the first trimester of pregnancy. Euploid foetuses with CRL between 45 and 84 mm were included, while those with NT≥3.5 mm were excluded. CRL measurement was considered to be accurate if the median multiples of the median (MoM) for pregnancy-associated plasma protein A (PAPP-A) was between 0.90 and 1.10. Fifteen sonographers participated in the study, six of whom comprised the control group. Systematic error for a sonographer was considered when CRL measurement was greater than ±2 mm with respect to the control group. Quality for NT was assured by means of the WHIRI method and each sonographer cumulative sum control chart (CUSUM). Results For CRL accuracy, five sonographers underestimated the measurements, while another four overestimated them, with no statistical differences. For smaller sized foetuses, all sonographers met the established specifications. Regarding NT control, three sonographers did not meet the quality criteria for the median MoM. All sonographers met the specifications for the logarithmic standard deviation of the NT MoM levels. Thirteen sonographers met the CUSUM specifications. Conclusions Evaluation of a quality control of ultrasonography parameters by laboratory professionals is necessary to avoid under- or overestimation tendencies for CRL and NT measurements. CUSUM is a useful tool for the immediate correction of errors in NT measurements.

Diagnostics ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 398
Author(s):  
Stefano Cosma ◽  
Andrea Roberto Carosso ◽  
Fulvio Borella ◽  
Jessica Cusato ◽  
Marialuisa Bovetti ◽  
...  

This prospective observational study aimed to evaluate whether women with SARS-CoV-2 infection during the first trimester of pregnancy are at higher risk of noninvasive prenatal screening test alterations and/or of congenital fetal anomalies at the second-trimester fetal anatomy scan. Maternal symptoms were secondly investigated. The study was carried out on 12-week pregnant women admitted for noninvasive prenatal testing (16 April and 22 June 2020). The cohort had seromolecular tests for SARS-CoV-2, after which they were divided into a positive case group and a negative control group. Both groups had 20-week ultrasound screening. Seventeen out of the 164 women tested positive for SARS-CoV-2 (10.3%). There were no significant differences in mean nuchal translucency thickness or biochemical markers (pregnancy-associated plasma protein A, alpha-fetoprotein, human chorionic gonadotropin, unconjugated estriol) between cases and controls (p = 0.77, 0.63, 0.30, 0.40, 0.28) or in the fetal incidence of structural anomalies at the second-trimester fetal anatomy scan (p = 0.21). No pneumonia or hospital admission due to COVID-19-related symptoms were observed. Asymptomatic or mildly symptomatic SARS-CoV-2 infection during the first trimester of pregnancy did not predispose affected women to more fetal anomalies than unaffected women. COVID-19 had a favorable maternal course at the beginning of pregnancy in our healthy cohort.


Author(s):  
Lavanya T. ◽  
Premalatha R. ◽  
Nandita A. Thakkar ◽  
Latha Jawahar ◽  
Priya Kannappa Rajendran ◽  
...  

Background: Estimation of serum PAPP-A levels studied predictability for adverse perinatal outcome. This case control study tries to establish the association between low PAPP-A levels among the pregnant woman and adverse maternal foetal outcome.Methods: This is an case-control study during 2017-2018 in the women delivered at Department of OBG at Mehta Hospitals. Women delivered in the labour room  had a first trimester screening of PAPP-A level were explained, taken informed consent, questionnaire which include detailed antenatal history, mode of delivery and baby data.  Depending upon outcome, the subjects are classified as case group or control group, out of the study sample of 264 subjects, 88 patients who had complications were taken as cases and 176 patients with no complications taken as control were undertaken.Results: Low PAPP-A level (<0.5 MoM) showed high incidence of PIH and preeclampsia, followed by IUGR and Preterm. PAPP-A level >0.5 MoM, normal outcome is more than the adverse outcome. The difference in the PAPP-A levels is statistically significant. In women with low PAPP A level, low birth weight found statistically significant when compared with <0.5 PAPP A level. The sensitivity of PAPP A levels in identifying the complicated outcomes was 17.04%.The specificity was 98.85%. The positive predictive value of predicting the complications was 88.23% and negative predictive value of 70.44%.Conclusions: The low PAPP-A levels confirmed during first trimester of pregnancy is associated with adverse maternal and foetal outcome such as PIH, preeclampsia, preterm, IUGR and LBW.


1962 ◽  
Vol 41 (1) ◽  
pp. 123-128 ◽  
Author(s):  
Pentti A. Järvinen ◽  
Sykkö Pesonen ◽  
Pirkko Väänänen

ABSTRACT The fractional determination of 17-ketosteroids in the daily urine was performed in nine cases of hyperemesis gravidarum and in four control cases, in the first trimester of pregnancy both before and after corticotrophin administration. The excretion of total 17-KS is similar in the two groups. Only in the hyperemesis group does the excretion of total 17-KS increase significantly after corticotrophin administration. The fractional determination reveals no difference between the two groups of patients with regard to the values of the fractions U (unidentified 17-KS), A (androsterone) and Rest (11-oxygenated 17-KS). The excretion of dehydroepiandrosterone is significantly higher in the hyperemesis group than in the control group. The excretion of androstanolone seems to be lower in the hyperemesis group than in the control group, but the difference is not statistically significant. The differences in the correlation between dehydroepiandrosterone and androstanolone in the two groups is significant. The high excretion of dehydroepiandrosterone and low excretion of androstanolone in cases of hyperemesis gravidarum is a sign of adrenal dysfunction.


2021 ◽  
Vol 225 (02) ◽  
pp. 125-128
Author(s):  
Hasan Eroğlu ◽  
Nazan Vanlı Tonyalı ◽  
Gokcen Orgul ◽  
Derya Biriken ◽  
Aykan Yucel ◽  
...  

Abstract Purpose To evaluate the usability of first-trimester maternal serum ProBNP levels in the prediction of intrauterine growth restriction (IUGR). Methods In this prospective study, blood samples taken from 500 women who applied to our polyclinic for routine serum aneuploidy screening between the 11–14th gestational weeks were centrifuged. The obtained plasma samples were placed in Eppendorf tubes and stored at −80+°C. For the final analysis, first-trimester maternal serum ProBNP levels of 32 women diagnosed with postpartum IUGR and 32 healthy women randomly selected as the control group were compared. FGR was defined as estimated fetal weight below the 10th percentile for the gestational age. Results The mean ProBNP levels were statistically and significantly higher in the women with intrauterine growth restriction (113.73±94.69 vs. 58.33±47.70 pg/mL, p<0.01). At a cut-off level of 50.93, ProBNP accurately predicted occurrence of IUGR (AUC+= 0.794 (95% confidence interval 0.679–0.910), p+= 0.001) with sensitivity and specificity rates of 78.1 and 69.0%, respectively. Conclusion First-trimester serum ProBNP level was significantly higher in women who developed IUGR compared to healthy controls. First-trimester ProBNP level can be used as a potential marker to predict the development of IUGR in pregnant women.


2011 ◽  
Vol 30 (2) ◽  
pp. 126-130 ◽  
Author(s):  
Jasmina Durković ◽  
Luka Anđelić ◽  
Bojana Mandić ◽  
Denis Lazar

False Positive Values of Biomarkers of Prenatal Screening on Chromosomopathy as Indicators of a Risky PregnancyGenetic screening on chromosomopathy has been performed on 2000 pregnant women in their first trimester of pregnancy by determining Pregnancy associated plasma protein-A and free-beta HCG biomarkers in maternal serum. After obtaining a normal fetal karyotype, the pathological values of the biomarkers have been correlated with other pregnancy disorders, and the possible causes of the positive genetic screening have been tested. 340 false positive biomarkers (17%) have been detected. The increased free-beta HCG (48.24%) had a significant influence. A significant correlation (p > 0.01) between the increased free-beta HCG and bleeding during pregnancy has been established. Complications occurred in 78.52% pregnancies with pathological biomarkers, MISSed in 13.82%, miscarriages in 10.88%, induced pregnancy terminations caused by fetal anomalies in 8.82% and births with disturbed fetal vitality in 45%. The research results have shown a significant correlation (p > 0.01) between the increased value of the free-beta HCG biomarkers and fetal hypoxia. The false positive genetic screening, caused by the increased free-beta HCG, can indicate placental dysfunction and fetal vitality disruption.


2018 ◽  
Vol 6 (6) ◽  
pp. 1028-1031 ◽  
Author(s):  
Vesna Livrinova ◽  
Igor Petrov ◽  
Igor Samardziski ◽  
Viktorija Jovanovska ◽  
Slagjana Simeonova-Krstevska ◽  
...  

BACKGROUND: Pregnancy-associated plasma protein A (PAPP-A), is a protease which releases Insulin-like growth factor. The role of this factor is stimulation of cell mitosis, differentiation and trophoblastic invasion of deciduas. Identification of patients with low PAPP-A (under 0.4 MoM in the first trimester has an influence on birth weight, attenuation of fetal growth, preeclampsia, birth and fetal demise.AIM: The main issue in the study is evaluating an influence of PAPP-A, calculated in the first trimester on the unfavourable outcome of pregnancy.MATERIAL AND METHODS: Seventy pregnant women with singleton pregnancy underwent first-trimester biochemical screening. The target group were women with PAPP-A below 0.4 MoM, and in control group, PAPP-A were оver 0.4 MoM. There was an assessment of the influence on the mode of delivery, gestational week, the presence of intrauterine growth restriction, preeclampsia, temporary birth, intrauterine fetal demise and newborn condition.RESULTS: In target group, consisted of 35 patients, 16 were delivered at term. From 28 to 37 g.w.- were 7 patient, 22-28 g.w.- 4 and 8 patients were under the 22 g.w (all with fetal demise) there were 19 pretemporary deliveries - 9 with Cesarean Section (SC). In the target group: 5 newborn wеre with IUGR, 6 women had preeclampsia, 1 had placental abruption. In control group were 35 patients: 28 delivered at term, 9 with SC, 26 vaginal deliveries; with IUGR were 4 newborns. Two newborns were hypertrophic.CONCLUSION: There is a significant difference in unfavourable outcome in the cases with PAPP-A under 0.4 Mom, particular in the group, with a PAPP-A value under 0.2 MoM. The patients delivered with SC with the main indications in utero hypoxia, growth restriction and elevated blood pressure had PAPP-A between 0.3-0.4 MoM. The patients with intrauterine fetal death and placental abruption in the most of the cases have PAPP-A value under 0.2 MoM. There is a need to be aware in these pregnancies to achieve the preventions of adverse outcome, to decrease perinatal morbidity and mortality.


2012 ◽  
Vol 40 (S1) ◽  
pp. 197-197 ◽  
Author(s):  
J. Sabria ◽  
E. Sabrià ◽  
A. Borrell ◽  
R. Navarro ◽  
M. Gómez Roig ◽  
...  

2019 ◽  
Vol 493 ◽  
pp. S588
Author(s):  
A. Arias García ◽  
P. Reimundo Díaz-Fierros ◽  
J. Ramis Fossas

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