scholarly journals Sensitivity and specificity of prenatal screening methods for detection of risk of fetal chromosomal abnormalities

2020 ◽  
Vol 9 (2) ◽  
pp. 540
Author(s):  
Sunil Kumar Juneja ◽  
Pooja Tandon ◽  
Anjali Sharma ◽  
Anshu Sharma
Keyword(s):  
Early Detection ◽  
Sensitivity And Specificity ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
First Trimester ◽  
Diagnostic Methods ◽  
Screening Methods ◽  
Second Trimester ◽  
Test Sensitivity ◽  
Pregnant Mothers

Background: Babies born with chromosomal abnormalities pose a burden on the family as well as the society at large. Early detection and management of fetal chromosomal abnormalities has become an essential component of antenatal care. Hence pregnant women of all ages are offered screening methods for early detection of chromosomal abnormalities. We intended to study the sensitivity and specificity of prenatal screening methods for detection of risk of fetal chromosomal abnormalities.Methods: A three-year retrospective study was conducted from January 2015 to December 2017 in 258 singleton pregnant mothers attending antenatal clinic and delivering at DMCH. The patients were screened for chromosomal abnormalities in the first trimester by NB NT scan along with dual marker and level II anomaly screen scan along with quadruple test in the second trimester. Based on the test results the patients were classified into high risk and low risk pregnant mothers. All the patients with abnormal quadruple test were subjected to amniocentesis for karyotyping. The results of the first trimester and second trimester screening methods were statistically analyzed using chi square test, sensitivity and specificity of the prenatal screening methods was calculated.Results: The sensitivity and specificity of dual marker test for detection of chromosomal abnormality is 50% and 85.94% respectively and that of quadruple test sensitivity is 50%, specificity is 95.3%. The difference was highly significant in the favour of the quadruple marker with P-value of 0.0004.Conclusions: While counseling the patients regarding possibility of having abnormal fetus, obstetrician should keep in mind the false negatives and false positives of prenatal screening and diagnostic methods.

scholarly journals Prenatal Screening of Aneuploidies

2021 ◽  
Author(s):  
Madhavilatha Routhu ◽  
Shiva Surya Varalakshmi Koneru
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
First Trimester ◽  
Maternal Plasma ◽  
Structural Defects ◽  
Screening Methods ◽  
Second Trimester ◽  
History Of

Chromosomal abnormalities includes1) abnormalities in number of chromosomes which are known as aneuploidies and 2) structural defects like translocations and deletions. In this we will discuss about Aneuploidies The incidence of Aneuploidy is around one in 200 live births. Aneuploidy increases with advancing maternal age. Fetal aneuploidy has been associated with significant pregnancy complications such as growth restriction, congenital malformations and perinatal deaths. Several Major developments are happened in prenatal screening of Aneuploidy especially the introduction of first trimester screen with Nuchal thickness and fetal cell free DNA in maternal plasma and identification of ultrasound markers and biochemical screening in second trimester. In this chapter we will discuss about what are trisomies, why “Down syndrome” is important to detect prenatally, history of “Down syndrome”, advances in screening methods biochemical as well as sonographic markers in first and second trimester and the criteria to get those markers. What are the features of trisomy 21, trisomy18 and trisomy13.

scholarly journals Progesterone's Serum Level and a New Ultrasonographic Parameter in the First Trimester Pregnancy – Prognostic Factors for Embryonic Demise

2019 ◽  
Vol 41 (09) ◽  
pp. 525-530
Author(s):  
Carmen Elena Bucuri ◽  
Razvan Ciortea ◽  
Andrei Mihai Malutan ◽  
Costin Berceanu ◽  
Maria Patricia Rada ◽  
...  
Keyword(s):  
Serum Level ◽  
Chromosomal Abnormalities ◽  
First Trimester ◽  
Yolk Sac ◽  
Diagnostic Methods ◽  
Control Group ◽  
Case Group ◽  
Screening Methods ◽  
Control Analysis ◽  
Serum Progesterone

Abstract Objective The etiology of embryonic demise is multifactorial, with chromosomal abnormalities being the most common (40%). The purpose of the present study is to evaluate the correlation between a serum biomarker, progesterone, and an ultrasonographic parameter, the distance between yolk sac and embryo (DYSE) in assessing the prognosis of pregnancy outcome in the 1st trimester. Methods The present study is a prospective case-control analysis that includes 2 groups of patients: 81 patients with first-trimester normal evolutive pregnancy and 89 patients with embryonic demise, all of the patients having between 6 and 11 weeks of amenorrhea. Endovaginal ultrasonographic exploration was performed to evaluate the distance between the lower pole of the embryo and the yolk sac. From each subject enrolled in the study, 20 ml of blood was collected for progesterone serum level measurement. Results Regarding the DYSE in the case group, lower values were observed compared with the control group, the difference being statistically significant. In the statistical analysis of serum progesterone values, statistically significant differences were observed between the 2 groups (p < 0.05). Conclusion The DYSE has a high positive predictive value in identifying pregnancies with potentially reserved outcome, with the present study demonstrating that a DYSE < 3 mm causes an unfavorable evolution of the pregnancy. Low serum levels of progesterone are associated with an increased rate of nonviable embryos. The correlation between these two parameters increases the effectiveness of screening methods in prenatal monitoring and improves the diagnostic methods for the first-trimester pregnancies whose outcome potential can be reserved.

scholarly journals The impact of prenatal screening tests on prenatal diagnosis in Taiwan from 2006 to 2019: a regional cohort study

2022 ◽  
Vol 22 (1) ◽  
Author(s):  
Ching Hua Hsiao ◽  
Ching Hsuan Chen ◽  
Po Jen Cheng ◽  
Steven W. Shaw ◽  
Woei Chyn Chu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Prenatal Screening ◽  
Diagnostic Testing ◽  
First Trimester ◽  
Screening Tests ◽  
Screening Methods ◽  
Second Trimester ◽  
Invasive Procedures ◽  
Trimester Screening ◽  
The Impact

Abstract Background The purpose of this study is to evaluate the impact of prenatal screening tests on prenatal diagnosis in Taiwan’s 14 years from 2006 to 2019. Methods The prenatal screening methods evolved from the second-trimester serum screening to combined first-trimester screening (cFTS) and then followed by the non-invasive cell-free DNA prenatal test (NIPT). The data used by the Department of Statistics, the Ministry of Health and Welfare and Department of Household Registration, Ministry of the Interior public website. Results This regional registry-based cohort retrospective study examined a total of 2,775,792 births from January 2006 to December 2019. The proportion of advanced maternal age (AMA) pregnancies increased from 11.63% in 2006 to 30.94% in 2019. Overall, invasive diagnostic testing was used in 87.22% of AMA pregnancies. The prenatal detection rate of trisomy 21 and 18 increased from 74.1% and 83.3% in 2006 to 96.9% and 98.8% in 2019, respectively. Conclusion During the second-trimester and cFTS periods, the percentage of AMA pregnancies increased every year and the number of invasive procedures also accompany with increased percentage of AMA. However, during the period that NIPT were implemented, the percentage of invasive procedures decreased.

Trends in early prenatal screening for chromosomal abnormalities and congenital malformations in Russia in 2018

2020 ◽  
pp. 76-78
Author(s):  
Е.А. Калашникова ◽  
Е.Н. Андреева ◽  
П.А. Голошубов ◽  
Н.О. Одегова ◽  
Е.В. Юдина ◽  
...  
Keyword(s):  
Reference Values ◽  
Congenital Malformations ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
First Trimester ◽  
First Trimester Screening ◽  
Trimester Screening ◽  
Overall Effectiveness ◽  
Regions Of Russia

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.

PS02.209: PROGNOSTIC VALUE OF CHEST-TUBE AMYLASE IN DETECTING EARLY ANASTOMOTIC LEAKAGE AFTER IVOR-LEWIS ESOPHAGECTOMY

2018 ◽  
Vol 31 (Supplement_1) ◽  
pp. 181-181
Author(s):  
Luca Giulini ◽  
Attila Dubecz ◽  
Norbert Solymosi ◽  
Hubert Stein
Keyword(s):  
Early Detection ◽  
Sensitivity And Specificity ◽  
Chest Tube ◽  
Diagnostic Methods ◽  
Amylase Level ◽  
Anastomotic Leaks ◽  
Chest Tubes ◽  
Ivor Lewis ◽  
Ivor Lewis Esophagectomy ◽  
Drain Amylase

Abstract Background Intrathoracic anastomotic leaks after esophagectomy are a significant cause of postoperative morbidity and death. Early detection and timely management is crucial but existing diagnostic methods are either invasive or have a low sensitivity. The aim of this study was to evaluate the effectiveness of daily drain amylase levels in detecting early anastomotic leaks after Ivor-Lewis esophagectomy compared with C-Reactive Protein (CRP) levels. Methods Between June 2015 and September 2017, 126 Ivor-Lewis esophagectomies for cancer were performed in our surgical department. In 80 of these patients, drain amylase levels were collected as long a right-sided chest-tube was in place. Chest-tubes were removed at a secretion volume < 300 ml/24 h. CRP levels were measured daily. If bile was detected in the chest-tube and/or after re-exploration of the chest, no further data were collected. Early anastomotic leaks were defined as occurring as long as the chest tubes were in site, in the mean the 5th postoperative day (POD). According to the collected data, drain amylase levels > 350 U/l, and CRP > 30 mg/dl were considered positive. Sensitivity and specificity in detecting anastomotic insufficiency for both drain amylase and CRP were calculated. Results A clinically significant anastomotic leak occurred in 7,1% (9/126) of all esophagectomy patients with 0,8% (1/126) postoperative 30-days mortality. An early anastomotic disruption occurred in 4 of the 80 analysed patients. Three of them had a positive chest-drain amylase level and none a positive CRP level on POD1. The same three patients had on POD 2 a positive CRP level or presented bile in the chest-tube. The fourth patient presented at POD 2 bile in the chest tubes. On POD 1 he presented neither positive amylase nor CRP. The sensitivity and specificity for drain amylase and CRP within the first 3 POD was 0,75 and 0,98 vs 0,75 and 0,85 respectively. The accuracy for both amylase and CRP were calculated at 0,97 vs 0,85. Conclusion Chest-tube amylase levels after Ivor-Lewis esophagectomy are more accurate for the detection of early esophageal anastomotic leaks than CRP. This could facilitate early detection of anastomotic leaks up to 24 hours earlier than elevated blood CRP levels. Disclosure All authors have declared no conflicts of interest.

scholarly journals Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Rulin Dai ◽  
Yang Yu ◽  
Qi Xi ◽  
Xiaonan Hu ◽  
Haibo Zhu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Northeast China ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
False Negative ◽  
Screening Methods ◽  
Serological Screening ◽  
Diagnostic Center ◽  
Positive Results

Abstract Background Several different technologies are used for prenatal screening procedures and genetic diagnostic technologies. We aimed to investigate the rates of chromosomal abnormalities in cases with different abnormal prenatal indications and to determine the relationships between fetal chromosomal abnormalities and indicators of prenatal abnormalities in Northeast China. Methods We evaluated 4953 16- to 23-week singleton gestation cases using amniocentesis and a total of 3583 participants received serological screening. Fetal chromosomal analyses were performed for all samples using fluorescence in situ hybridization and karyotyping. Results Among these samples, 204 (4.12%) had fetal chromosomal abnormalities. A total of 3583 participants received serological screening, among whom 102 (2.85%) exhibited positive results. A total of 309 participants had ultrasonography; 42 (13.6%) of these had abnormalities. Among 97 participants who had non-invasive prenatal testing (NIPT), 59 (61%) had positive results. Among 1265 participants with advanced maternal age, 78 (6.2%) had abnormal results. Conclusion The serological screening and NIPT that were included in the prenatal screening methods all had false positive and false negative rates. Although they are both prenatal screening techniques, maternal serum screening cannot be replaced by NIPT. The pregnancy women should accept NIPT in a qualified prenatal diagnostic center. We recommend that pregnant women at high or critical risk undergoing prenatal screening should confirm the fetal karyotype through amniocentesis. Moreover, if women receive a positive result via NIPT, they should not have a pregnancy termination without undergoing further prenatal diagnosis.

scholarly journals First Quarter Screening for Aneuploidy

2020 ◽  
Vol 71 (1) ◽  
pp. 313-319
Author(s):  
Florina Nela Osvar ◽  
Adrian Ratiu ◽  
Florica Voita-Mekeres ◽  
Gabriel Mihai Mekeres ◽  
Florin Gheorghe Voita ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Test Group ◽  
First Trimester ◽  
Study Groups ◽  
Screening Methods ◽  
Non Invasive ◽  
Prenatal Test ◽  
Trimester Screening ◽  
Sensitivity Specificity ◽  
A Prospective Study

The objective of this paper is to evaluate the rate of detection of chromosomal abnormalities through the non-invasive prenatal test (NIPT) and its contribution to reducing the number of invasive tests. We conducted a prospective study on a batch of 3,000 single-pregnancy pregnancies highlighted in the first trimester. The patients were divided into two study groups, the first group, which we will call the TPNI (Non-Invasive Prenatal Test) group. First trimester screening was performed by non-invasive prenatal test at 10 weeks, and ultrasound between 11-13 +/- 6 days according to the criteria of the Fetal Medicine Foundation (FMF. London, UK). The sensitivity, specificity and accuracy of the two screening methods are almost similar, using NITP screening we obtain a rate of approximately 20% lower false-positive results, and we also perform a smaller number of invasive tests.

scholarly journals High-throughput fetal fraction amplification increases analytical performance of noninvasive prenatal screening

2020 ◽  
Author(s):  
Noah C. Welker ◽  
Albert K. Lee ◽  
Rachel A. S. Kjolby ◽  
Helen Y. Wan ◽  
Mark R. Theilmann ◽  
...  
Keyword(s):  
Sensitivity And Specificity ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
High Body Mass Index ◽  
Average Increase ◽  
Noninvasive Prenatal Screening ◽  
Maternal Cell ◽  
Key Driver ◽  
Fetal Fraction ◽  
Test Failure

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.

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