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.

scholarly journals The Effect of Down Syndrome Biochemical Markers on Predicting Severity of Preeclampsia

2020 ◽  
Author(s):  
AYSE OZBAN
Keyword(s):  
Down Syndrome ◽  
Pregnant Women ◽  
Biochemical Markers ◽  
First Trimester ◽  
Maternal Serum ◽  
Screening Tests ◽  
Second Trimester ◽  
Study Results ◽  
Second Trimester Screening ◽  
Trimester Screening

Abstract Objective: This study aims to determine whether it is possible to predict preeclampsia by comparing postpartum results and test results of the pregnant women diagnosed with preeclampsia, whose first and/or second trimester screening tests were accessible, and to demonstrate the predictability of severity and week of onset.Background: 204 patients underwent renal transplantation in our center and 84 of them were female. Five of our patients (one of them had two births) gave birth to a total of 6 pregnancies.Method: 135 patients were diagnosed with preeclampsia and their first and/or second trimester screening tests were accessible, and 366 control participants gave birth to a healthy baby between 37-41 weeks after standard follow-up period for pregnancy and their screening tests were also accessible.Results: The study results show that the first trimester maternal serum PAPP-A level is significantly low in preeclamptic pregnant women, and that the second trimester maternal serum AFP and hCG levels are significantly high and uE3 levels are significantly low The results also suggest that the first and second trimester Down syndrome biochemical markers can be used in preeclampsia screening.Conclusion: Among these markers, uE3 is the parameter which affects the possibility of preeclampsia the most. However, the first and second trimester Down syndrome biochemical markers are not effective in predicting the severity and onset week of preeclampsia.

The impact of preimplantation genetic testing for aneuploidy on prenatal screening

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Moti Gulersen ◽  
Alexandra Peyser ◽  
Jiyoung Kim ◽  
Amanda Ferraro ◽  
Randi Goldman ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Prenatal Screening ◽  
Diagnostic Testing ◽  
Second Trimester ◽  
Preimplantation Genetic Testing ◽  
Prenatal Diagnostic ◽  
Second Trimester Screening ◽  
The Impact ◽  
Prenatal Diagnostic Testing ◽  
Euploid Embryo

Abstract Objectives To determine whether preimplantation genetic testing for aneuploidy (PGT-A) is associated with a reduced risk of abnormal conventional prenatal screening results in singleton pregnancies conceived using in vitro fertilization (IVF). Methods This was a retrospective cohort study of singleton IVF pregnancies conceived from a single tertiary care center between January 2014 and September 2019. Exclusion criteria included mosaic embryo transfers, vanishing twin pregnancies, and cycles with missing outcome data. Two cases of prenatally diagnosed aneuploidy that resulted in early voluntary terminations were also excluded. The primary outcome of abnormal first or second-trimester combined screening results was compared between two groups: pregnancy conceived after transfer of a euploid embryo by PGT-A vs. transfer of an untested embryo. Multivariable backwards-stepwise logistic regression with Firth method was used to adjust for potential confounders. Results Of the 419 pregnancies included, 208 (49.6%) were conceived after transfer of a euploid embryo by PGT-A, and 211 (50.4%) were conceived after transfer of an untested embryo. PGT-A was not associated with a lower likelihood of abnormal first-trimester (adjusted OR 1.64, 95% CI 0.82–3.39) or second-trimester screening results (adjusted OR 0.96, 95% CI 0.56–1.64). The incidences of cell-free DNA testing, fetal sonographic abnormalities, genetic counseling, and invasive prenatal diagnostic testing were similar between the two groups. Conclusions Our data suggest that PGT-A is not associated with a change in the likelihood of abnormal prenatal screening results or utilization of invasive prenatal diagnostic testing. Counseling this patient population regarding the importance of prenatal screening and prenatal diagnostic testing, where appropriate, remains essential.

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.

First-Trimester or Second-Trimester Screening, or Both, for Down Syndrome

2021 ◽  
pp. 108-114
Author(s):  
Jessica M. Hart ◽  
Barbara M. O’Brien
Keyword(s):  
Down Syndrome ◽  
First Trimester ◽  
Nuchal Translucency ◽  
The United States ◽  
Screening Tests ◽  
Second Trimester ◽  
Detection Rates ◽  
Fully Integrated ◽  
Second Trimester Screening ◽  
Trimester Screening

The FASTER Trial by Malone et al. discusses methods of prenatal genetic screening for Down syndrome. The trial included 15 sites within the United States between 1999 and 2005. This trial was designed to compare the differences in detection rates of Down syndrome when applying screening tests from the first-trimester, second-trimester, or screening tests that combine markers from both trimesters. Screening tests evaluated in this trial include nuchal translucency, serum screen, combined screen, quadruple screen, independent sequential screen, stepwise sequential screen, serum integrated screen, and fully integrated screen. This trial compares detection rates, false positive rates, and timing of results between screening tests.

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.

scholarly journals Assessment of a change of protocol of prenatal screening by inclusion of non-invasive prenatal diagnosis

2020 ◽  
Vol 1 (2) ◽  
Author(s):  
Rocío Cabra-Rodríguez ◽  
Guadalupe Bueno Rodríguez ◽  
Cristina Santos Rosa ◽  
Miguel Ángel Castaño López ◽  
Sonia Delgado Muñoz ◽  
...  
Keyword(s):  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Screening Program ◽  
High Sensitivity ◽  
Maternal Blood ◽  
Screening Tests ◽  
Loss To Follow Up ◽  
Non Invasive ◽  
Second Trimester Screening ◽  
Trimester Screening

AbstractObjectivesNon-invasive prenatal screening (NIPS) is a test for the detection of major fetal chromosomal abnormalities in maternal blood during pregnancy. The purpose of this study was to assess the performance of NIPS implemented within the framework of the Screening Program for Congenital Abnormalities of the Andalusian Health System.MethodsA retrospective observational study was undertaken to determine the number of NIPS tests performed since its introduction. The number of invasive diagnostic tests done after the implementation of NIPS in the patients included in the program between March 2016 and August 2017 was also quantified.ResultsA total of 6,258 combined first- and second trimester screening tests were performed, covering 95% of the population. In total, 250 subjects were identified as high risk, of whom 200 underwent NIPS after loss to follow-up. NIPS showed a sensitivity of 100% (95% CI: 76.84–100%) and a specificity of 99.46% (95% CI: 97.04–99.99%).ConclusionsThis test has proven to have a very high sensitivity and specificity. The results obtained demonstrate that the incorporation of NIPS in clinical practice minimizes the rate of miscarriages and reduces the frequency of invasive procedures by 70%.

scholarly journals Prenatal screening for trisomy 21: a comparative performance and cost analysis of different screening strategies

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Tianhua Huang ◽  
Clare Gibbons ◽  
Shamim Rashid ◽  
Megan K. Priston ◽  
H. Melanie Bedford ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Prenatal Screening ◽  
Rolling Circle Amplification ◽  
False Positive Rate ◽  
Diagnostic Testing ◽  
First Trimester ◽  
Aneuploidy Screening ◽  
Comparative Performance ◽  
Cell Free Fetal Dna ◽  
Cfdna Screening

Abstract Background Prenatal screening for chromosome aneuploidies have constantly been evolving, especially with the introduction of cell-free fetal DNA (cfDNA) screening in the most recent years. This study compares the performance, costs and timing of test results of three cfDNA screening implementation strategies: contingent, reflex and primary. Methods We modelled enhanced first trimester screening (eFTS) as the first-tier test in contingent or reflex strategies. cfDNA test was performed contingent on or reflex from eFTS results. A comparison was made between cfDNA screening using sequencing technology and Rolling Circle Amplification (RCA)/imaging solution. All model assumptions were based on results from previous publications or information from the Ontario prenatal screening population. Results At an eFTS risk cut-off of ≥1/1000, contingent and reflex cfDNA screening have the same detection rate (DR) (94%) for trisomy 21. Reflex cfDNA screening using RCA/Imaging solution provided the lowest false positive rate and cost. The number of women requiring genetic counselling and diagnostic testing was significantly reduced and women received their cfDNA screening result 9 days sooner compared with the contingent model. While primary cfDNA screening improved the trisomy 21 DR by 3–5%, it was more costly and more women required diagnostic testing. Conclusion Reflex cfDNA screening is the most cost-effective prenatal screening strategy. It can improve the efficiency of prenatal aneuploidy screening by reducing the number of patient visits and providing more timely results.

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