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 Andrology Laboratory Manual

2010 ◽  
Vol 1 (1) ◽  
pp. 348-348 ◽  
Author(s):  
MS Srinivas ◽  
Ashok Agarwal ◽  
SS Vasan
Keyword(s):  
Down Syndrome ◽  
Speech Therapy ◽  
Screening Program ◽  
Normal Karyotype ◽  
Screening Tests ◽  
Full Potential ◽  
Laboratory Manual ◽  
Second Trimester Screening ◽  
Trimester Screening ◽  
Supportive Family

ABSTRACT A 25 years old woman with Down syndrome (DS) presented at 9 weeks gestational age. She belonged to a very supportive family. She was married to a person with normal karyotype and conceived within 3 months of marriage. Her antenatal period was uneventful, except for mild IUGR and oligohydroamnios 32 weeks onwards. At 38 weeks, she underwent induction of labor. She tolerated labor pains well but because of failure to progress, cesarean section was performed. She delivered a 2 kg male baby, who was phenotypically and genotypically normal. Screening for trisomy 21 should be offered to all women as part of routine antenatal care. This offer should include detailed counseling about the implications and limitations of the test used in the screening program. The available second trimester screening tests are the double, triple and quadruple tests. Children with Down syndrome may benefit from speech therapy, physical therapy and occupational therapy. They may receive special education and assistance in school. Full potential of Down patients can be utilized only with complete support of family and society.

scholarly journals New screen on the block: non-invasive prenatal testing for fetal chromosomal abnormalities

2017 ◽  
Vol 9 (4) ◽  
pp. 248 ◽  
Author(s):  
Sara Filoche ◽  
Beverley Lawton ◽  
Angela Beard ◽  
Anthony Dowell ◽  
Peter Stone
Keyword(s):  
False Positive ◽  
Chromosomal Abnormalities ◽  
False Positive Rate ◽  
Prenatal Testing ◽  
Diagnostic Procedures ◽  
First Trimester ◽  
Maternal Blood ◽  
Non Invasive ◽  
Positive Rate ◽  
Trimester Screening

ABSTRACT Non-invasive prenatal testing (NIPT) is a new screen for fetal chromosomal abnormalities. It is a screening test based on technology that involves the analysis of feto-placental DNA that is present in maternal blood. This DNA is then analysed for abnormalities of specific chromosomes (eg 13, 18, 21, X, Y). NIPT has a much higher screening capability for chromosomal abnormalities than current combined first trimester screening, with ~99% sensitivity for trisomy 21 (Down syndrome) and at least a 10-fold higher positive predictive value. The low false-positive rate (1–3%) is one of the most advertised advantages of NIPT. In practice, this could lead to a significant reduction in the number of false-positive tests and the need for invasive diagnostic procedures. NIPT is now suitable for singleton and twin pregnancies and can be performed from ~10 weeks in a pregnancy. NIPT is not currently publicly funded in most countries. However, the increasing availability of NIPT commercially will likely lead to an increase in demand for this as a screening option. Given the high numbers of women who visit a general practitioner (GP) in their first trimester, GPs are well-placed to also offer NIPT as a screening option. A GP’s role in facilitating access to this service will likely be crucial in ensuring equity in access to this technology, and it is important to ensure that they are well supported to do so.

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 Routinization of prenatal screening with the non-invasive prenatal test: pregnant women’s perspectives

2021 ◽  
Author(s):  
Karuna R. M. van der Meij ◽  
Annabel Njio ◽  
Linda Martin ◽  
Janneke T. Gitsels-van der Wal ◽  
Mireille N. Bekker ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Pregnant Women ◽  
Prenatal Screening ◽  
Screening Program ◽  
Informed Choice ◽  
Aneuploidy Screening ◽  
Non Invasive ◽  
Fetal Aneuploidy ◽  
Societal Pressure ◽  
Prenatal Test

AbstractDue to the favorable test characteristics of the non-invasive prenatal test (NIPT) in the screening of fetal aneuploidy, there has been a strong and growing demand for implementation. In the Netherlands, NIPT is offered within a governmentally supported screening program as a first-tier screening test for all pregnant women (TRIDENT-2 study). However, concerns have been raised that the test’s favorable characteristics might lead to uncritical use, also referred to as routinization. This study addresses women’s perspectives on prenatal screening with NIPT by evaluating three aspects related to routinization: informed choice, freedom to choose and (personal and societal) perspectives on Down syndrome. Nationwide, a questionnaire was completed by 751 pregnant women after receiving counseling for prenatal screening. Of the respondents, the majority (75.5%) made an informed choice for prenatal screening as measured by the multidimensional measure of informed choice (MMIC). Education level and religious affiliation were significant predictors of informed choice. The main reason to accept screening was “seeking reassurance” (25.5%), and the main reason to decline was “every child is welcome” (30.6%). The majority of respondents (87.7%) did not perceive societal pressure to test. Differences between test-acceptors and test-decliners in personal and societal perspectives on Down syndrome were found. Our study revealed high rates of informed decision-making and perceived freedom to choose regarding fetal aneuploidy screening, suggesting that there is little reason for concern about routinization of NIPT based on the perspectives of Dutch pregnant women. Our findings highlight the importance of responsible implementation of NIPT within a national screening program.

scholarly journals Correlation between maternal serum biochemical markers with karyotyping for prenatal screening of foetal chromosomal abnormalities

2017 ◽  
Vol 6 (11) ◽  
pp. 4851
Author(s):  
Ketki S. Kulkarni ◽  
Payal Lakhani ◽  
Sujata A. Dalvi ◽  
Chandrashankar Gupta
Keyword(s):  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Tertiary Care ◽  
False Negative ◽  
Positive Likelihood Ratio ◽  
Screening Tests ◽  
Confirmatory Test ◽  
Singleton Pregnancy ◽  
True Negative ◽  
Marker Test

Background: Prenatal screening for chromosomal abnormalities can be done by biochemical screening tests like dual marker test (DMT), triple marker test (TMT) and quadruple marker test (QMT). It is important to identify ideal screening test among them which best correlates with result of karyotyping which is confirmatory test of foetal chromosomal abnormalities. This helps to decrease need for invasive prenatal tests for foetal karyotyping. This study aims to evaluate sensitivity, specificity, diagnostic accuracy and correlation of DMT, TMT, and QMT with results of karyotyping.Methods: Retrospective observational study was conducted in tertiary care maternity hospital over one year- 1st January 2015 to 31st December 2015. Women with singleton pregnancy undergoing DMT, TMT or QMT were included.Results: Of the 529 women screened by biochemical marker tests, 462 (87.33%) were screen negative and 67 (12.66%) women were screen positive. In 56 women, it was false positive (83.58%) and in 11 women true positive (16.41%). In 461 women the test results were true negative (99.78%), but in one case, result was false negative (0.21%).  3/11 (27.27%)women with foetal chromosomal abnormalities were primigravidae. 4/11 (36.36%)women were below 35 years. DMT and QMT had higher sensitivity (both 100%) and specificity (90.00% and 93.18% respectively) than TMT (sensitivity 80% and specificity 82.61%). Positive likelihood ratio (LR+) was 1.00 in DMT. Diagnostic odds ratio was highest with DMT (DOR=115.11) and best correlated with karyotyping results (coefficient of correlation 0.4).Conclusions: Universal screening of antenatal women, irrespective of their age and parity is suggested. DMT has highest diagnostic value and best correlation with the results of karyotyping. Hence the dual marker test can be considered to be better test for screening for aneuploidy.

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.

scholarly journals Follow-up in Patients With Non-invasive Prenatal Screening Failures: A Reflection on the Choice of Further Prenatal Diagnosis

2021 ◽  
Vol 12 ◽  
Author(s):  
Sha Liu ◽  
Hongqian Liu ◽  
Jianlong Liu ◽  
Ting Bai ◽  
Xiaosha Jing ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Detection Methods ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Non Invasive

BackgroundOur aim was to provide a theoretical basis for clinicians to conduct genetic counseling and choose further prenatal diagnosis methods for pregnant women who failed non-invasive prenatal screening (NIPS).MethodsA retrospective analysis was performed on pregnant women who had failed NIPS tests.ResultsAmong the 123,291 samples, 394 pregnant women did not obtain valid results due to test failures. A total of 378 pregnant women were available for follow-up, while 16 patients were lost to follow-up. Of these 378, 135 pregnant women chose further prenatal diagnosis through amniocentesis, and one case of dysplasia was recalled for postpartum chromosome testing. The incidence rate of congenital chromosomal abnormalities in those who failed the NIPS was 3.97% (15/378), which was higher than that of the chromosomal abnormalities in the common population (1.8%). Among the pregnant women who received prenatal diagnosis, the positive rates of chromosomal abnormalities in the chromosomal microarray analysis/copy number variation sequencing (CMA/CNV-seq) group and in the karyotyping group were 15.28 and 4.76%, respectively.ConclusionPrenatal diagnosis should be strongly recommended in posttest genetic counseling for pregnant women with NIPS failures. Further, high-resolution detection methods should be recommended for additional prenatal diagnoses.

scholarly journals Non-invasive prenatal testing: what an obstetrician needs to know

2020 ◽  
Vol 9 (12) ◽  
pp. 5200
Author(s):  
Mishu Mangla
Keyword(s):  
Health Care Providers ◽  
Prenatal Screening ◽  
Prenatal Testing ◽  
High Sensitivity ◽  
Target Population ◽  
Care Providers ◽  
Advantages And Disadvantages ◽  
Non Invasive ◽  
Primary Health Care Providers ◽  
First Choice

No field in obstetrics has seen such fast advancement, as the field of prenatal screening and diagnosis. A wide variety of tests are available today, and this at times becomes confusing both for the patient and the treating doctor that which screening test would be best suited in the given circumstances. Non-invasive prenatal screening, with its numerous advantages is rapidly becoming the test of first choice, especially in the affording set of population.  Although, the test has a very high sensitivity and a very good positive predictive value, this too suffers from some disadvantages which should be clear to the obstetrician ordering the test. A good knowledge about the test, the ideal target population in which this should be offered as the primary screening tool and limitations of the test should be known to all practicing obstetricians and primary health care providers. The current review aims to provide a simplified and updated knowledge regarding non-invasive prenatal testing (NIPT), its major advantages and disadvantages and summarizes the role of ultrasound in patients with negative NIPT.

scholarly journals First-trimester Screening: An Overview

2005 ◽  
Vol 53 (3) ◽  
pp. 281-283 ◽  
Author(s):  
Bernd Eiben ◽  
Ralf Glaubitz
Keyword(s):  
Prenatal Screening ◽  
Heart Defects ◽  
Protein A ◽  
Nasal Bone ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Maternal Blood ◽  
Chromosomal Anomalies ◽  
Detection Rates ◽  
Trimester Screening

An improvement in prenatal screening for chromosomal defects has been achieved by combining sonography and biochemical markers. Analyzing markers taken from maternal blood such as pregnancy-associated plasma protein A and free β-human chorionic gonadotropin in combination with the ultrasound marker nuchal translucency provides detection rates of 90% for the most important chromosomal anomalies. In addition, nuchal translucency is a marker for severe heart defects. This report discusses the potential of new markers such as the nasal bone.

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