Non-Invasive Testing, Non-Invasive Counseling

A regulatory moment for prenatal health care is here. An increasing amount of legislative attention has concentrated on the decisions pregnant women make after prenatal testing. The impetus for this legislation is a new non-invasive prenatal genetic test (NIPT). From the beginning of pregnancy, cell-free fetal DNA travels across the placental lining into the mother’s bloodstream, increasing in quantity as the pregnancy progresses. Laboratories can now analyze that DNA for chromosomal abnormalities and for fetal sex at 10 weeks of gestation. NIPT, which relies on a sample of the pregnant woman’s blood, is painless, occurs early in pregnancy, and is available for clinical and commercial use. In 2013, major health insurance plans began to cover NIPT for certain populations of women, such as women over 35 years old. And private companies have started marketing prenatal testing kits directly to consumers, who return a blood sample from the prospective mother to a company laboratory.

Download Full-text

Relevance of Invasive Testing in Era of Non-Invasive Testing for Prenatal Chromosomal Abnormalities

Gynecology Obstetrics and Reproductive Medicine ◽

10.21613/gorm.2020.1081 ◽

2020 ◽

pp. 1

Author(s):

Abhijeet Kumar ◽

Madhusudan Dey ◽

Devendra Arora

Keyword(s):

Diagnostic Tests ◽

Prenatal Screening ◽

Chromosomal Abnormalities ◽

Chorionic Villus ◽

Prenatal Testing ◽

Maternal Serum ◽

Chorionic Villus Sampling ◽

Non Invasive ◽

Fetal Dna ◽

Cell Free Fetal Dna

<p>Prenatal screening for chromosomal abnormalities has two components i.e. prenatal screening (maternal serum screening and cell-free fetal DNA screening) and prenatal diagnosis (chorionic villus sampling, amniocentesis, and cordocentesis). Prenatal testing in the past decade is evolving towards non-invasive methods to determine the chromosome abnormality disorders in the fetus without incurring the risk of miscarriage. Conventional tools for prenatal screening included maternal age, maternal serum markers, ultrasound marker (nuchal thickness), and their combinations. With the increased risk of screening test patients were offered diagnostic tests (chorionic villus sampling, amniocentesis, and cordocentesis). After the availability of noninvasive prenatal tests for commercial use in 2011, a great marketing drive is there to establish it as a master tool for prenatal testing. However various society guidelines i.e. ACOG, RCOG, and ISUOG have clearly stated that cell-free fetal DNA based noninvasive prenatal tests is a screening test, not a diagnostic test. In the succeeding paragraph, we will review current trends in the field of cell-free fetal DNA noninvasive prenatal tests and the relevance of invasive testing in the context of noninvasive prenatal tests. Noninvasive prenatal tests does not entirely replace invasive prenatal testing procedures. Positive noninvasive prenatal tests findings must be confirmed by diagnostic tests based on an invasive sample source, mainly chorionic villus sampling or amniocentesis due to false positive and false negative reports of cell-free fetal DNA based tests. Continuing research and development efforts are focused on overriding noninvasive prenatal tests limitations. Recent studies show that procedure-associated risks in the case of prenatal invasive testing are very low as compared to previous studies. Prenatal invasive testing will remain as the backbone of prenatal diagnostic testing until the limitation of noninvasive prenatal tests is overcome.</p>

Download Full-text

Non-Invasive Prenatal Testing: Current Perspectives and Future Challenges

Genes ◽

10.3390/genes12010015 ◽

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.

Download Full-text