Understanding Noninvasive Prenatal Testing

 

Noninvasive Prenatal Screening

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Understanding Non-Invasive Prenatal Testing (NIPT) | Prenatal Diagnosis & Screening | Vancouver

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What is Noninvasive Prenatal Testing (NIPT)?

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Noninvasive Prenatal Testing (NIPT) is a way to screen for some genetic disorders by looking at the mother’s blood. You may also hear it called noninvasive prenatal screening (NIPS). These are the same thing.

These tests work by finding a small amount of the baby’s DNA that circulates in the mother’s bloodstream, known as cell-free DNA or cfDNA. The blood is drawn in the same way as. Noninvasive prenatal testing (NIPT), sometimes called noninvasive prenatal screening (NIPS), is a method of determining the risk that the fetus will be born with certain genetic abnormalities. This testing analyzes small fragments of DNA that are circulating in a pregnant woman’s blood.

Unlike most DNA, which is found inside a cell’s nucleus, these fragments are free-floating and not within. The NIPT prenatal test is sometimes called the noninvasive prenatal screen (NIPS). A Patient’s Guide to Understanding Non-Invasive Prenatal Testing Screening for genetic conditions is offered to pregnant women because all pregnancies have a small chance for a genetic condition regardless of maternal age, family history, or personal health.

Some screening methods are routine, such as an ultrasound. Non-invasive prenatal testing (NIPT) involves a blood screening which can analyse your baby’s DNA to identify the likelihood for genetic conditions such as Down syndrome. Previously, other screening tests were available however these were invasive. What are non-invasive prenatal tests (NIPT)? The phrase lacks specificity and, technically, there are several tests that could be categorized that way.

However, NIPT is used most widely to describe genetic tests that use cell-free DNA (cfDNA) circulating in maternal blood to detect fetal trisomy 21, 18, and 13, as well as other chromosomal disorders. Noninvasive prenatal testing (NIPT) is a prenatal screening method that is gaining popularity for its timeline. Prenatal testing can be performed as early as 10 weeks, and its accuracy is between 97 and 99 percent accurate for the most common trisomy disorders (depending on the condition). OBJECTIVE: The aim of this study is to assess Latina patient understanding of noninvasive prenatal testing (NIPT) and identify what factors influence uptake/refusal to NIPT to adapt counseling to the needs and interests of this population. The aim of this study is to assess Latina patient understanding of noninvasive prenatal testing (NIPT) and identify what factors influence uptake/refusal to NIPT to adapt counseling to the needs and interests of this population.

Methods. Mixed‐methods survey in English and Spanish administered to pregnant Latina patients throughout pregnancy. Results. Non-invasive prenatal chromosomal aneuploidy testing-clinical experience: 100,000 clinical samples.

PLoS One. 2014;9(10):e109173. Ryan A, Hunkapiller N, Banjevic M et al. Validation of an enhanced version of a single-nucleotide polymorphism-based noninvasive prenatal test for detection of fetal aneuploidies. Fetal Diagn Ther.

2016;40(3):219-23.

List of related literature:

This approach is termed noninvasive prenatal testing (NIPT).

“Williams Textbook of Endocrinology E-Book” by Shlomo Melmed, Ronald Koenig, Clifford Rosen, Richard Auchus, Allison Goldfine
from Williams Textbook of Endocrinology E-Book
by Shlomo Melmed, Ronald Koenig, et. al.
Elsevier Health Sciences, 2019

The combined test, the quadruple test and noninvasive prenatal testing are all screening tests (i.e., they give the patient a risk factor for the chance of having a baby with Down syndrome).

“Crash Course Obstetrics and Gynaecology” by Sophie Kay, Charlotte Jean Sandhu, Shreelata T Datta, Philip Xiu, Ruma Dutta, Fevzi Shakir
from Crash Course Obstetrics and Gynaecology
by Sophie Kay, Charlotte Jean Sandhu, et. al.
Elsevier Health Sciences, 2019

Once the desired volume is transfused, a fetal blood sample is drawn to check the final hematocrit and to calculate the percentage of circulating red cells that are native fetal cells (the Kleihauer–Betke test).

“Conn's Current Therapy 2010 E-Book: Expert Consult” by Edward T. Bope, Robert E. Rakel, Rick D. Kellerman
from Conn’s Current Therapy 2010 E-Book: Expert Consult
by Edward T. Bope, Robert E. Rakel, Rick D. Kellerman
Elsevier Health Sciences, 2010

If the risk is high, further tests are undertaken including the recovery of some foetal cells for genetic screening from the amniotic fluid surrounding the foetus in the womb by inserting a hollow needle into the womb (amniocentesis).

“Principles and Techniques of Biochemistry and Molecular Biology” by Keith Wilson, John Walker
from Principles and Techniques of Biochemistry and Molecular Biology
by Keith Wilson, John Walker
Cambridge University Press, 2010

This test involves a doctor sticking a needle into your belly and through your uterus to withdraw some fluid from your placenta.

“The Girlfriends' Guide to Pregnancy” by Vicki Iovine
from The Girlfriends’ Guide to Pregnancy
by Vicki Iovine
Pocket Books, 2007

To prevent unnecessary fears or stress, it is important that the nurse explain that most tests are used to establish a baseline normal for comparison throughout pregnancy.

“Introduction to Maternity and Pediatric Nursing E-Book” by Gloria Leifer
from Introduction to Maternity and Pediatric Nursing E-Book
by Gloria Leifer
Elsevier Health Sciences, 2018

Because these low levels frequently make interpretation of noninvasive prenatal testing (NIPT) impossible, if repeat testing remains low, the patient should be informed of her increased risk and offered prenatal diagnostic testing by amniocentesis or chorionic villus sampling.

“Fetal Medicine E-Book: Basic Science and Clinical Practice” by Pranav P Pandya, Ronald Wapner, Dick Oepkes, Neil Sebire
from Fetal Medicine E-Book: Basic Science and Clinical Practice
by Pranav P Pandya, Ronald Wapner, et. al.
Elsevier Health Sciences, 2019

For prenatal diagnosis, abnormal chromosome breakage analysis and genetic testing can be performed in amniotic fluid cells or in tissue from a chorionic villus biopsy.

“Nelson Textbook of Pediatrics, 2-Volume Set” by Robert M. Kliegman, MD, Bonita F. Stanton, MD, Joseph St. Geme, MD, Nina F Schor, MD, PhD
from Nelson Textbook of Pediatrics, 2-Volume Set
by Robert M. Kliegman, MD, Bonita F. Stanton, MD, et. al.
Elsevier Health Sciences, 2015

This is a route of non-invasive prenatal diagnosis, particularly for newer testing procedures that require fewer cells.

“Anatomy and Physiology for Midwives E-Book” by Jane Coad, Melvyn Dunstall
from Anatomy and Physiology for Midwives E-Book
by Jane Coad, Melvyn Dunstall
Elsevier Health Sciences, 2011

Overview of the impact of noninvasive prenatal testing on diagnostic procedures.

“Oxford Textbook of Obstetrics and Gynaecology” by Sabaratnam Arulkumaran, William Ledger, Stergios Doumouchtsis, Lynette Denny
from Oxford Textbook of Obstetrics and Gynaecology
by Sabaratnam Arulkumaran, William Ledger, et. al.
Oxford University Press, 2019

Oktay Kutluk

Kutluk Oktay, MD, FACOG is one of the world's foremost experts in fertility preservation as well as ovarian stimulation and in vitro fertilization for infertility treatments. He developed and performed the world's first ovarian transplantation procedures as well as pioneered new ovarian stimulation protocols for embryo and oocyte freezing for breast and endometrial cancer patients.

Mail: [email protected]
Telephone: +1 (877) 492-3666

Biography: https://medicine.yale.edu/profile/kutluk_oktay/
Bibliography: oktay_bibliography

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  • Hello, I am 16 week pregnant. I had my nst scan in which my placenta is low. Than in 15 week I had triple marker test which shows Trisomy 21 high risk 1:10. Trisomy 18 and open neural tube defect are at low risk. Can Trisomy 21 risk can be lowered down with medicine? What other test can be conduct for its confirmation? How this effect feutus?