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Increased nuchal translucency after low-risk noninvasive prenatal testing: What should we tell prospective parents?

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Review

. 2021 Sep;41(10):1305-1315.

doi: 10.1002/pd.6024. Epub 2021 Aug 6.

Joanne Kelley  ¹ , George McGillivray  ^{1   2} , Simon Meagher  ^{1   3   4} , Lisa Hui  ^{1   4}

Affiliations

Affiliations

• ¹ Department of Perinatal Medicine, Mercy Hospital for Women, Heidelberg, Victoria, Australia.
• ² Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
• ³ Monash Ultrasound for Women, Monash IVF Group, Melbourne, Victoria, Australia.
• ⁴ Department of Obstetrics and Gynaecology, University of Melbourne, Parkville, Victoria, Australia.

• PMID: 34297420
• DOI: 10.1002/pd.6024

Review

Joanne Kelley et al. Prenat Diagn. 2021 Sep.

. 2021 Sep;41(10):1305-1315.

doi: 10.1002/pd.6024. Epub 2021 Aug 6.

Authors

Joanne Kelley  ¹ , George McGillivray  ^{1   2} , Simon Meagher  ^{1   3   4} , Lisa Hui  ^{1   4}

Affiliations

• ¹ Department of Perinatal Medicine, Mercy Hospital for Women, Heidelberg, Victoria, Australia.
• ² Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
• ³ Monash Ultrasound for Women, Monash IVF Group, Melbourne, Victoria, Australia.
• ⁴ Department of Obstetrics and Gynaecology, University of Melbourne, Parkville, Victoria, Australia.

• PMID: 34297420
• DOI: 10.1002/pd.6024

Abstract

Three decades ago, the observation that first trimester fetuses with excess fluid accumulation at the back of the neck were more likely to be aneuploid, gave rise to a new era of prenatal screening. The nuchal translucency (NT) measurement in combination with serum biomarkers and maternal age, resulted in the first trimester combined screening (FTCS) program. The introduction of noninvasive prenatal testing (NIPT) over the past decade has introduced the option for parents to receive highly sensitive and specific screening information for common trisomy from as early as 10 weeks gestation, altering the traditional pathway FTCS pathway. The retention of the 11-13-week NT ultrasound remains important in the detection of structural anomalies; however, the optimal management of pregnancies with a low-risk NIPT result and an isolated increased NT measurement in an era of advanced genomic testing options is a new dilemma for clinicians. For parents, the prolonged period between the initial diagnosis in first trimester, and prognostic information at each successive stage of investigations up to 22-24 weeks, can be emotionally challenging. This article addresses the common questions from parents and clinicians as they navigate the uncertainty of having a fetus diagnosed with an increased NT after a low-risk NIPT result and presents suggested approaches to management.

© 2021 John Wiley & Sons Ltd.

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References

1. 1. Nicolaides KH, Azar G, Snijders RJ, Gosden CM. Fetal nuchal oedema: associated malformations and chromosomal defects. Fetal Diagn Ther. 1992;7:123-131.
2. 1. Snijders RJ, Noble P, Sebire N, Souka A, Nicolaides K. UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation. Fetal Medicine Foundation First Trimester Screening Group. Lancet. 1998;352:343-346.
3. 1. Hui L, Bianchi DW. Noninvasive prenatal testing for aneuploidy - the vanguard of genomic medicine. Annu Rev Med. 2017;68:459-472.
4. 1. Gadsbøll K, Petersen OB, Gatinois V, et al. The NIPT-map Study Group. Current use of noninvasive prenatal testing in Europe, Australia and the USA: a graphical presentation. Acta Obstet Gynecol Scand. 2020;99:722-730.
5. 1. Lindquist A, Hui L, Poulton A, et al. State-wide utilization and performance of traditional and cell-free DNA-based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study. Ultrasound Obstet Gynecol. 2020;56(2):215-224.

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Non-invasive prenatal test Panorama | DNA test in Moscow and St.

Warning : mysql_fetch_array() expects parameter 1 to be resource, boolean given in /home/p570384/www/dnk-center.ru/nipt.php on line Non-invasive prenatal test Panorama | DNA test in Moscow and St. Petersburg - DNA center

Moscow

• Moscow
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+7 (495) 777-96-32

• +7 (495) 777-96-32
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Mon-Fri 8-18, Sat 10-16

At an early stage

From 9 weeks pregnant

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Routine venous blood sampling nine0017

High accuracy

Accuracy 99.9%

Free consultation

Geneticist will answer questions

Non-invasive prenatal test - the most advanced genetic test in early pregnancy, which determines the risk of chromosomal abnormalities, such as Down syndrome, and the sex of the unborn child, by maternal blood, with an accuracy of 99. 9%.

Benefits of NIPT Panorama

• with 9weeks of pregnancy, due date 12-14 days
• the most complete test - Down's syndrome and 12 more chromosomal abnormalities, fetal sex
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• free consultation by a laboratory geneticist, before or after the test

What can be determined using the Panorama NIPT test?

Panorama non-invasive test screens for common genetic conditions caused by extra or missing chromosomes in a baby's DNA:

Basic test

• Down syndrome (trisomy 21)
• Edwards syndrome (trisomy 18)
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• Triploid
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  Gender of child

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Extended test

Basic test +

Microdeletions

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Child gender

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Non-invasive DNA test result

Low risk

Your child is unlikely to have one of the conditions on the test panel.

High risk

Your child is at high risk for this condition.

Each result, except for the risks of chromosomal abnormalities, contains information about the gender of the unborn child: boy or girl

In a small percentage of cases, the test cannot extract enough information from your blood sample to determine an accurate result. If this occurs, a second blood sample may be requested, free of charge. nine0017

Risk of Down syndrome according to maternal age

Enter mother's age (from 20 to 49):

Risk:

Which laboratory performs the Panorama test?

Natera is the world leader in prenatal genetic testing. The company was founded in 2004 by a group of doctors, geneticists, bioinformatics and software developers. Natera has developed its own Panorama NIPT test algorithm, and from 2012 to date, more than 1,500,000 pregnant women worldwide have taken this test. Natera's certified laboratory is located in Silicon Valley, California, USA. nine0017

Nathera Laboratory Certificates

What is the guarantee that NIPT Panorama is performed in the Nathera Laboratory?

According to the results of the analysis, you can order a free genetic consultation . Geneticist from the laboratory of Nater (USA) will call your phone number and take 15 minutes to answer questions about the Panorama NIPT test. The consultation will take place with a translation service.

Why such a low price? We do not cooperate with doctors and do not pay them remuneration. In addition, we have direct contract with Nater's laboratory , so we can offer the lowest price.

Each patient can register on the laboratory website natera.com and track their results. This is not a mandatory procedure, you will receive the result by mail faster. To register, you need to enter your full name in English, number test tubes (Kit ID) - a barcode that is pasted on test tubes. The number of tubes can be obtained in 4-5 business days when the samples arrive and are processed in the laboratory. nine0017

NIPT limitations panorama

The NIPT test is intended for all pregnant women, regardless of age, except for women with the following types of pregnancy:

• Failed twins, with a known missing twin, embryonic reduction, i.e. a singleton pregnancy, which initially started as twins;
• higher order of multiple pregnancies, than twins - triplets, quadruplets;
• pregnancy with twins from a surrogate mother or from donor eggs (for pregnancy with an egg donor or surrogate motherhood, only singleton pregnancy is accepted)

For pregnancy with missing twin or twins using surrogacy or egg donation We recommend the NIPS test.

NIPT test capabilities Panorama

* - reported when detected

A feature of the Panorama test is that it determines the sex of the fetus separately for each child , and also determines the zygosity - monozygotic or dizygotic . This information is needed by an obstetrician-gynecologist for the correct management of pregnancy.

Reviews of NIPT Panorama in Moscow and St. Petersburg

My choice - NIPT Panorama

After the second trimester screening, the doctors sent me for an amniocentesis - invasive procedure. Down's syndrome was suspected. Or, if financially feasible, do NIPT, which is safe and accurate. I chose NIPT Panorama, it showed low risk, and I didn't have to pierce my stomach.

Irina, Moscow

I have a healthy boy!

I am 38 years old and automatically fall into the risk group for Down syndrome. And although the screening was normal, the doctors didn't care recommended further testing. NIPT Panorama became my choice, the exact risk and gender of the child is determined by the mother's blood. NIPT showed me a low risk and the sex of the child is a boy! nine0017

Svetlana, Moscow

Excellent service

I received the Panorama NIPT test result, the result was understandable - a low risk of chromosomal aneuploidy and a female sex. But I wanted to know more about some indicators, so I booked a consultation with Nater's lab geneticist. The geneticist called me free of charge on the phone and explained everything.

Marina, St. Petersburg

NIPT Panorama the most accurate

I decided to check the health of the unborn child as early as possible, before the first trimester screening because I am over 35 years old. At 9 weeks I donated blood, it was completely painless. After 10 days, the result was ready, low risk and sex - a boy. I calmed down and no longer worried, until the birth.

Ani, Moscow

Questions about Panorama NIPT

Is Panorama NIPT right for me?

The NIPT test is a mandatory test for all pregnant women in the US and developed countries in Europe. It is recommended to absolutely every pregnant woman. Some women are more likely to have certain conditions, such as Down syndrome, in their baby, especially if they: nine0017

• pregnant woman over 35;
• in the family history there is a patient with genetic abnormalities;
• abnormal ultrasound findings;
• abnormal blood chemistry results.

How is the NIPT test performed?

The non-invasive prenatal Panorama test is performed on a sample of the mother's blood from a vein in her arm. During pregnancy, some DNA the baby passes into the mother's bloodstream. The Panorama test looks at these DNAs for signs of certain genetic conditions that can affect child's health. Already since 9weeks, the concentration of fetal DNA (fetal DNA) is sufficient for testing.

What other options are there for prenatal testing?

1. Conventional screening tests - Ultrasound and blood chemistry screening - not as accurate as the NIPT test, and screening for fewer conditions. If screening shows an abnormal result, NIPT is recommended.

2. Diagnostic invasive tests such as amniocentesis or chorionic villus sampling give a definitive diagnosis and are able to identify a greater number of conditions, but are associated with a 1-2% risk of pregnancy complications, including termination of pregnancy. If NIPT shows a low risk, these dangerous procedures should not be done. If NIPT shows high risk, it is recommended to confirm with invasive procedures.

What is the fetal fraction?

Fetal fraction - the proportion of fetal DNA in the mother's blood. If the proportion of DNA is less than 2%, the result will not be issued, and you will need to retake blood In 2 weeks. If the woman is not pregnant, the fetal fraction will be low and the test will not show a result. Sometimes a low fetal fraction can indicate fetal abnormalities.

Why is testing for microdeletions recommended?

Microdeletions are small missing portions of chromosomes.
• They are common and can be severe
• They often go undiagnosed
• Same risk for mothers of any age
• They respond to early childhood intervention
• The combined incidence of these five microdeletion syndromes at birth is approximately 1:1000

Other than low risk and high risk of Down syndrome, what other outcomes are there?

There is a high risk result of Turner syndrome in girls - monosomy X. nine0017

Boys are often at high risk for Klinefelter's syndrome.

Sign up for analysis "NIPT Panorama"

If there is no collection point in your city, you can order a set from us and send us samples.

What NIPT results might look like and what they mean

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