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.

Prenatal screening and non-invasive prenatal testing regulation in the Russian Federation

2020 ◽  
Vol 19 (6) ◽  
pp. 124-132
Author(s):  
A.S. Olenev ◽  
◽  
E.E. Baranova ◽  
O.V. Sagaydak ◽  
A.M. Galaktionova ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Russian Federation ◽  
Prenatal Screening ◽  
Prenatal Testing ◽  
High Sensitivity ◽  
Chromosomal Anomalies ◽  
Non Invasive ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
The Russian Federation

Congenital malformations, chromosomal and monogenic disease play a significant role in perinatal mortality and child disability. According to the early prenatal screening results in the Russian Federation in 2018, the overall ratio of chromosomal anomaly prevalence is 1:250–1:300. Currently aneuploidy risk is calculated by using indirect biochemical and ultrasound markers, that have low sensitivity and specificity which can cause false positives and false negative results leading to unreasonable invasive procedures or missing chromosomal anomalies. It is well known that cell-free fetal DNA is detected in maternal blood. Whole‐genome sequencing based non-invasive prenatal testing (NIPT) can detect fetal chromosomal aneuploidy with high sensitivity as early as 10 weeks into pregnancy. The accuracy of determining fetal sex is also high: sensitivity and specificity are 98,9% and 99,9% respectively. Implementing molecular technology into clinical practice is required to improve prenatal diagnosis in the Russian Federation, icluding Moscow. Integration of NIPT to analyse cell-free fetal DNA will increase the efficiency of fetal chromosomal anomalies’ detection. However, there are some legal and ethical aspects to consider when integrating a new technology for wide-spread use. This review reveals arguable issues of NIPT integration into widespread clinical practice and possible ways of solving those issues. Key words: NIPT, noninvasive prenatal test, prenatal screening, fetal sex, invasive prenatal diagnosis, X-linked disease, chromosomal anomaly, chromosomal microarray analysis

International experience in organizing non-invasive prenatal testing

2021 ◽  
Vol 20 (1) ◽  
pp. 129-137
Author(s):  
A.S. Olenev ◽  
◽  
E.E. Baranova ◽  
O.V. Sagaydak ◽  
A.M. Galaktionova ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Pregnant Woman ◽  
Prenatal Diagnosis ◽  
Prenatal Screening ◽  
Screening Method ◽  
Prenatal Testing ◽  
High Sensitivity ◽  
Non Invasive ◽  
The World ◽  
Chromosomal Aneuploidies

Non-invasive prenatal testinging (NIPT) is a relatively new method aimed at detecting fetal chromosomal aneuploidies by analyzing extracellular fetoplacental DNA in the blood of a pregnant woman. NIPT has high sensitivity and specificity, and many professional communities now recommend its use as a screening method. Since its introduction into clinical practice in Hong Kong in 2011, NIPT has expanded rapidly around the world. The experience of various countries in organizing non-invasive prenatal testing is described in this article. Key words: NIPT, non-invasive prenatal testing, extracellular fetoplacental DNA, prenatal screening, prenatal diagnosis, invasive prenatal diagnosis, aneuploidy

scholarly journals Non-Invasive Prenatal Testing: Current Perspectives and Future Challenges

Genes ◽  
2020 ◽  
Vol 12 (1) ◽  
pp. 15
Author(s):  
Luigi Carbone ◽  
Federica Cariati ◽  
Laura Sarno ◽  
Alessandro Conforti ◽  
Francesca Bagnulo ◽  
...  
Keyword(s):  
Prenatal Screening ◽  
Prenatal Testing ◽  
Non Invasive ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
Common Causes ◽  
Future Challenges ◽  
Neurodevelopmental Impairment ◽  
Fetal Aneuploidies ◽  
Made In

Fetal aneuploidies are among the most common causes of miscarriages, perinatal mortality and neurodevelopmental impairment. During the last 70 years, many efforts have been made in order to improve prenatal diagnosis and prenatal screening of these conditions. Recently, the use of cell-free fetal DNA (cff-DNA) testing has been increasingly used in different countries, representing an opportunity for non-invasive prenatal screening of pregnant women. The aim of this narrative review is to describe the state of the art and the main strengths and limitations of this test for prenatal screening of fetal aneuploidies.

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%.

Risk factors for glaucoma: what do they really mean?

2011 ◽  
Vol 17 (3) ◽  
pp. 233 ◽  
Author(s):  
Anthea Worley ◽  
Karen Grimmer-Somers
Keyword(s):  
Risk Factors ◽  
At Risk ◽  
Risk Factor ◽  
Health Care Providers ◽  
Management Strategies ◽  
Care Providers ◽  
Reference Guide ◽  
Future Assessment ◽  
Primary Health Care Providers ◽  
Patient’S History

Glaucoma is an insidious eye disease, potentially putting 4% of older Australians at risk of blindness, unless detected sufficiently early for initiation of effective treatment. This paper reports on the strengths of evidence and glaucoma risk factors that can be identified by primary health care providers from a patient’s history. A comprehensive search of peer-reviewed databases identified relevant secondary evidence published between 2002 and 2007. Risk factors that could be determined from a patient’s history were identified. A novel glaucoma risk factor reference guide was constructed according to evidence strength and level of concern regarding risk of developing glaucoma. The evidence is strong and consistent regarding the risk of developing glaucoma, and elevated intraocular pressure, advancing age, non-Caucasian ethnicity and family history of glaucoma. There is moderate evidence of association with glaucoma, and migraine, eye injury, myopia and long-term use of corticosteroids. There is conflicting evidence for living in a rural location, high blood pressure, diabetes and smoking. Early detection of people at risk of developing glaucoma can be initiated using our risk factor guide coupled with a comprehensive patient history. Timely future assessment and subsequent management strategies for at-risk individuals can then be effectively and efficiently actioned.

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