Down syndrome is caused by an extra (third) chromosome 21. Individuals with Down syndrome have therefore not 46, but 47 chromosomes. Whereas everyone has two chromosomes 21, they have 3. Therefore, Down syndrome is also called trisomy 21. The trisomy is usually due to an abnormality of the egg of the mother: normally all reproductive cells (eggs and sperms) carry only 23 chromosomes (one of each). At fertilisation the 23 chromosomes from the female egg than join the 23 chromosomes from the male sperm to form a fertilised egg or zygote with the normal 46 chromosomes. When one of the reproductive cells has an extra chromosome 21, the fertilised egg has 47 chromosomes with 3 chromosomes 21, resulting in Down syndrome. Trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome) have a similar origin.

FAQs Archive - Page 2 of 2 - DOWNsyndromeNIPT.info

Q: What happens after you received the NIPT test result ?

In case of a normal NIPT result : no specific follow up is necessary unless ultrasound examination of the fetus reveals anomalies and further fetal studies might be indicated. In case of test failure : in a limited number of pregnancies (1 %) NIPT cannot be performed. In that case NIPT can be repeated at no extra cost on a repeat maternal blood sample. If no result is obtained (< 1 % of pregnancies) the total amount you paid to GENDIA is reimbursed. In case of an abnormal NIPT result : in case of a trisomy of chromosome 21, 18, or 13, the implications will be discussed with you by your physician, midwife of Dr Willems from GENDIA. You can then decide to confirm the NIPT results with amniocentesis or chorionic villus biopsy (CVS), and discuss with the gynecologist whether you want to interrupt the pregnancy.

Q: What is the price of a NIPT test and how do I pay ?

Prices are variable. Contact us for exact quotes. An invoice is mailed to you after the blood sample has arrived at GENDIA. Payment is possible by credit card (please put the credit card coordinates on the patient form) or by bank transfer to the GENDIA bank account at the KBC bank (Anselmostraat 35, 2018 Antwerp, Belgium): IBAN: BE48-7350-0680-3627 BIC: KREDBEBB Please always mention “NIPT + your Name”

Q: How do I ask for a NIPT test ?

There are 2 possibilities: Sent a blood sample to Antwerp : You can also sent out blood to Antwerp. A special kit provided by GENDIA is required. When you or your physician are in need of a kit, please contact GENDIA at NIPT@GENDIA.net . Consultation in Antwerp : Patients can also visit the consultation at the GENDIA premises in Antwerp in order to have samples for NIPT taken, and receive a (free) genetic counselling. The genetic counseller will explain all the details about the NIPT test. Additionally, the genetic counseller will evaluate your personal or family history regarding congenital defects or genetic conditions in order to determine your risk to have, develop or transmit a genetic disease. You can make an apppointment for a consultation by email to NIPT@GENDIA.net . Please print out the form from the website, fill it out and bring it to the consultation.

6 05, 2014

How long takes the test before you get a NIPT result ?

By Sam Plessers|2019-04-27T09:01:38+02:00May 6th, 2014|Categories: NIPT|Comments Off on How long takes the test before you get a NIPT result ?

NIPT takes approximately 1 week to complete from arrival of the sample in the GENDIA lab. The result report is sent by email to the patient, physician and midwife (please provide all email addresses on the patient form that goes with the sample).

6 05, 2014

How does the NIPT result report looks like ?

By Sam Plessers|2016-11-11T09:41:40+01:00May 6th, 2014|Categories: NIPT|Comments Off on How does the NIPT result report looks like ?

NIPT results (in English) will be sent by email to you, your midwife and physician (please provide all email addresses on the patient form that goes with the sample). The result will say NORMAL or ABNORMAL (in case of trisomy 21, 18 or 13 ).

When you indicated on the patient form you wanted to know […]

6 05, 2014

How is NIPT technically performed ?

By Sam Plessers|2019-04-28T10:49:10+02:00May 6th, 2014|Categories: NIPT|Comments Off on How is NIPT technically performed ?

NIPT is performed on DNA isolated from maternal blood, which contains fetal DNA. The DNA is analyzed to determine the fetal copy number for chromosomes 21, 18, 13, thereby identifying any trisomy of these 3 chromosomes.

The fetal sex can also be determined.

6 05, 2014

Can the NIPT test fail ?

By Sam Plessers|2019-04-28T10:50:12+02:00May 6th, 2014|Categories: NIPT|Comments Off on Can the NIPT test fail ?

In a limited number of pregnancies (1 %) NIPT cannot be performed. In these pregnancies NIPT can be repeated at no extra cost on a repeat maternal blood sample.

6 05, 2014

What happens after you received the NIPT test result ?

By Sam Plessers|2019-04-28T10:59:40+02:00May 6th, 2014|Categories: NIPT|Comments Off on What happens after you received the NIPT test result ?

In case of a normal NIPT result: no specific follow up is necessary unless ultrasound examination of the fetus reveals anomalies and further fetal studies might be indicated.
In case of test failure: in a limited number of pregnancies (1 %) NIPT cannot be performed. In that case NIPT can be repeated at no […]

6 05, 2014

What is a trisomy ?

By Sam Plessers|2015-05-09T14:23:59+02:00May 6th, 2014|Categories: NIPT, Genetics|Comments Off on What is a trisomy ?

Down syndrome is caused by an extra (third) chromosome 21. Individuals with Down syndrome have therefore not 46, but 47 chromosomes. Whereas everyone has two chromosomes 21, they have 3. Therefore, Down syndrome is also called trisomy 21. The trisomy is usually due to an abnormality of the egg of the mother: normally all reproductive […]

6 05, 2014

Why is the risk for Down syndrome higher when the pregnant woman is older ?

By Sam Plessers|2015-03-14T14:20:58+01:00May 6th, 2014|Categories: NIPT, Genetics|Comments Off on Why is the risk for Down syndrome higher when the pregnant woman is older ?

As a woman is born with all her egg cells, the risk of a chromosome anomaly in the egg cell increases with her age.

When a pregnant woman is 30 yrs, the risk on Down syndrome is 1 on 1000 (0.1 %); at the age of 40 yrs the risk is 1 on 100 (1 %), […]

6 05, 2014

What is the price of a NIPT test and how do I pay ?

By Sam Plessers|2019-04-27T08:49:22+02:00May 6th, 2014|Categories: NIPT|Comments Off on What is the price of a NIPT test and how do I pay ?

Prices are variable. Contact us for exact quotes.
An invoice is mailed to you after the blood sample has arrived at GENDIA. Payment is possible by credit card (please put the credit card coordinates on the patient form) or by bank transfer to the GENDIA bank account at the KBC bank (Anselmostraat 35, […]

14 03, 2015

How do I ask for a NIPT test ?

By Sam Plessers|2016-11-11T09:41:39+01:00March 14th, 2015|Categories: GENDIA, NIPT|Comments Off on How do I ask for a NIPT test ?

There are 2 possibilities:

Sent a blood sample to Antwerp:
You can also sent out blood to Antwerp. A special kit provided by GENDIA is required. When you or your physician are in need of a kit, please contact GENDIA at NIPT@GENDIA.net.
Consultation in Antwerp:
Patients can also visit the consultation at the GENDIA premises in […]

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