Three steps to clear answers

While traditional screening (KUB) are performed later in pregnancy and may require multiple office visits2, Harmony can deliver clear answers as early as the first trimester with a single blood draw.

  1. A maternal blood sample is taken at week ten of pregnancy, or later. Sample is sent to Life Genomics laboratory in Gothenburg for analysis.
  2. DNA in the sample is analysed using proprietary Harmony technology.
  3. Test results are reported to your healthcare provider.

Getting your test results

The Harmony Prenatal Test gives clear answers about the risk to your pregnancy of trisomies 21 (Down syndrome), 18, and 13.

Once the analysis is completed, your provider receives the results and shares them with you.

If you also selected analysis of fetal sex, X and Y sex chromosomes or 22q11.2 micro deletion, those results are provided as well.

NIPT is recommended in Sweden

NIPT is accepted in Sweden even though the cost is mostly not included in public healthcare.

SFOG has recommended NIPT used in combination with KUB based on the publication from Statens beredning för medicinsk och social utvärdering. Read the guideline. Read the publication from SBU.

You can read more about NIPT in 1177 Vårdguiden.

Taking the Harmony Prenatal Test

Information to help you decide if the Harmony Prenatal Test is right for you. Discover how Harmony differs from other tests and learn what to expect when you take this simple blood test.

Less follow-up testing

Harmony is more accurate than traditional screening (FTS = KUB).1

With Harmony, there is less chance your doctor will recommend follow-up testing, such as amniocentesis, due to a false positive result.

How Harmony NIPT works

Harmony NIPT is a new type of very precise prenatal test for certain chromosomal syndromes that:
• Analyses DNA
• Uses a unique targeted method for DNA-analysis

Harmony analyzes DNA

During pregnancy, the mother’s blood contains fragments of the developing baby’s DNA. Harmony is a new type of test that analyzes this DNA in a blood sample to predict the probability of trisomy 21 (Down syndrome), as well as trisomies 18 and 13, in the baby.

A targeted approach

While traditional blood tests (first trimester screening = KUB) can miss as many as 15% of Down syndrome cases in pregnant women2, Harmony’s DNA-based technology accurately identifies more than 99% of cases.1

The Harmony Prenatal Test specifically targets the DNA in chromosomes 21, 18 and 13. While rare, these are the most common trisomies that occur in babies born to women of any age, when no other risk factors are known.4

The Harmony Prenatal Test  also offers the possibility to analyse fetal gender, sex chromosomal aneuploidies and the most frequently occurring chromosomal deletion, 22q11.2.

Read more about 22q11.3 deletion syndrome below.

Learn more about chromosomal syndrome

Superior quality control

The Harmony Prenatal Test incorporates extensive quality controls. These controls include measurement of the amount of the developing baby’s DNA in each sample, to ensure that there is enough DNA present to return a reliable result.3 While it may seem surprising, not all DNA-based genetic tests take the care to measure this basic information.
Harmony Microarray-based performance*

 

Do you want to know more?

Harmony offers extended analysis with NIPT, analysis of the 22q11.2 deletion syndrome.

22q11.2 Micro deletion

A micro deletion syndrome is lacking a small part of a chromosome and is named after the part of the chromosome that is missing. Harmony NIPT kan look for the 22q11.2 Micro deletion, the most common genetic cause of intellectual disability and heart failure after Down’s syndrome.

22q11.2 deletion syndrome

Older names: DiGeorge syndrome, CATCH 22, Velocardiofacial syndrome VCFS.

22q11.2 deletion syndrome has very large variability, even between people in a family having the same deletion. Many different organs may be affected. The most commonly occurring is heart malformation, cleft palate and underdevelopment of the thymus and thyroid glands. Common symptoms include feeding difficulties, speech and language disorders, infection susceptibility due to immune deficiency, learning difficulties and neuropsychiatric problems. Teeth, hearing, vision and growth can be also be affected. Underdevelopment of the thyroid glands may cause calcium deficiency which may cause seizures. The severity of the various symptoms can vary from very mild to severe.

Early diagnosis allows several of the problems to be treated at birth and in the newborn period, thus giving milder symptoms.

Genetics of 22q11.2 deletion syndrome

22q11.2 deletion syndrome is estimated to occur in approximately 1 in 4,000 born children. In about 90% of cases, there is a new chromosome change that is not found in any parent. In about 10% of cases, the syndrome is dominantly herited from one of the parents. The likelihood of giving birth to a child with 22q11.2 is independent of the mother’s age.

85% of cases have 3 megabases of DNA lacking (deletion) on the long arm of chromosome 22, others have lost a smaller part in the same area.

Harmony NIPT is designed to detect both the larger and the smaller deletions, unlike many other NIPT technologies that only detect the largest deletions.

Why not a wider panel that includes more microdeletions?

The advantage of Harmony NIPT is to avoid unnecessary amniocentesis / CVS.

Although the NIPT technologies are very good, a small number of results always appear, which falsely indicates a high probability of abnormality. These false alarms become more frequent the more abnormalities that are analyzed for, and if the abnormality in question also appears extremely rare, which applies to almost all microdeletions (1/10 000 – 1/100 000 births), the result is that the analysis makes more harm than good by causing an increase in the number of unnecessary amniocentesis / CVS.

For example, about 300-400 amniocentesis may be required to identify a true case of a microdeletion that occurs in 1 in 50,000 births.

We think this is not reasonable and therefore does not offer a wide panel of extremely rare syndromes with Harmony NIPT.

  1. Norton et al. N Engl J Med. 2015 Apr 23;372(17):1589-97
  2. ACOG Practice Bulletin 77. ACOG Committee on Practice Bulletins. Obstet Gynecol. 2007 Jan;109(1):217-27