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Not a diagnostic test
- If an expanded NIPT detects a microdeletion, remember that this is not a diagnostic test, and can’t tell you with 100 percent accuracy that your baby has a particular condition — they only give you a calculation of the odds.
www.whattoexpect.com › pregnancy › microdeletionWhat Is a Microdeletion? How Microdeletions Are Detected in ...
Jan 6, 2023 · NIPS, a genetic option available from 10 weeks gestational age, has a 70–83% detection rate and a 40–50% PPV for most associated 22q11.2 microdeletions. Prenatal imaging, usually by ultrasound, can detect several physical features associated with 22q11.2DS.
- 10.3390/genes14010160
- 2023/01
- Genes (Basel). 2023 Jan; 14(1): 160.
People also ask
Is a positive Nips result a diagnostic test for 22q11.2 microdeletion?
Does a negative Nips result reduce the risk of fetal 22q11.2DS?
Does Nips test detect microdeletion & microduplication syndromes?
How is 22q11 DS diagnosed?
Jan 6, 2023 · Thus, follow-up prenatal diagnostic testing with CMA is recommended for all patients with a positive NIPS result for 22q11.2 microdeletion. When fetal CMA results are found to be normal, it is appropriate to extend CMA to maternal DNA for recurrence risk evaluation and clinical assessment and management [ 16 , 17 ].
- What Is NIPT?
- How Does It Work?
- Synopsis
- NIPT Screening Performance
NIPT is a blood test that utilizes cell-free DNA technology (cfDNA) to predict the risk for fetal genetic disorders during pregnancy. In 2011, NIPT was introduced as a screen for T21 (trisomy 21 or Down syndrome). Today, NIPTcover the most common aneuploidies (T21, T13 and T18), as well as sex chromosomes and may also include some microdeletions an...
DNA fragments (outside of cells) can be found floating in the blood of all individualsIn every pregnant woman, there are fragments fromA maternal blood sample is obtained ≥10 weeks (with some labs offering testing beginning at 9 weeks) of pregnancyFetal FractionNIPT is a screening test only and not diagnostic. Cell-free DNA (cfDNA) is also commonly used with an understanding that the DNA is derived from placenta and not the fetus. NIPT utilizes next generation sequencing and bioinformatics algorithms to look at the DNA fragments in the mother and fetus, as a way of determining the likelihood of certain ge...
Detection rates
1. The following detection rates are based on recent meta-analysis (see ‘Learn More -Primary Resources’ below) 1.1. T21: >99% detection rate for T21 1.2. 98% detection rate for T18 1.3. 99% detection rate for T13 2. Combined false positive rate of 0.13% 2.1. cfDNA is the most sensitive and specific screen for T21, T18 and T13 3. Sensitivity and specificityare superior to standard screening for T21 and other common aneuploidies
Positive Predictive Value
Trisomies 1. NIPT generally has very high negative predictive values (NPV) | From ages 20 to 45, NPV is >99% (PQF NSGCcalculator) 2. PPV is also generally high but can vary based on age | Lower background risk will lower PPV | PQF NSGC calculator can be used to determine PPVs 2.1. PPVs have been reported up to approximately 90% for T21 but tend to be lower for T18, T13 and monosomy X 2.2. Abnormal ultrasound will increase PPV Microdeletions 1. NIPT for microdeletion syndromes can have high se...
Reasons for a False Positive Result
1. There is a high likelihood that a positive T21 NIPT screen is truly positive (approximately 90%) 2. However, confirmatory testing is necessary because false positive results are possible 2.1. Confined placental mosaicism (since NIPTonly looks at the placental DNA) 2.2. Vanishing twin that was aneuploid but surviving twin is normal 2.3. Maternal condition such as cancer (NIPT results will usually show multiple chromosomal aneuploidies) 2.4. Unknown
Apr 15, 2024 · A positive screening result was classified as a true positive (TP) if a diagnosis of 22q11.2DS was made by prenatal or postnatal diagnostic testing, including chromosomal microarray or fluorescence in situ hybridization (FISH).
- 15 April 2024
- 44, Issue8
What does it mean if I get a positive result? If an expanded NIPT detects a microdeletion, remember that this is not a diagnostic test, and can’t tell you with 100 percent accuracy that your baby has a particular condition — they only give you a calculation of the odds.
The Harmony test looks for 22q11.2 microdeletion, the most common genetic cause of intellectual disability and heart defects after Down syndrome. 1 While it can be inherited from a parent, most babies with 22q11.2 microdeletion are the first in their family to be diagnosed. 3 Some people with 22q11.2 microdeletion have very subtle features that ...
Mar 4, 2019 · NIPS-Plus exhibited high performance for detection of trisomies, SCAs, and the most common 22q11.2 microdeletion associated with DiGeorge syndrome, and moderate to low performance for...
