TrisoNIM^®

TRISONIM® TWIN

• Detects fetal trisomies 21, 13 and 18, although these cannot be attributed to individual fetus.
• Provides information on the sex of the fetus, but if a Y chromosome is detected, the test cannot determine the sex of each twin fetus.
• BGI results software (NIFTY) with CE marking for trisomy 21.
• Detailed fetal fraction calculation, using a double algorithm and discarding samples with less than 3.5% fetal fraction, in accordance with international recommendations.

What requirements must patients fulfil to undergo TrisoNIM® Twin?

• Be at least 10 weeks pregnant, confirmed by ultrasound.
• Twin pregnancy (two fetus).
• Invasive diagnosis not clinically indicated.

Turnaround time: 5 working days from receipt of the sample.
Reference: PRE1009

Please remember to attach the Informed Consent Form to the sample, which you will find on the right.

Vanishing twin
Due to the uncontrolled fetal DNA produced by a vanishing twin, if one of the fetus is lost*, we do not recommend performing any TrisoNIM® tests except in the following situation:

• Loss of one of the fetus before the eighth week of pregnancy and provided that at least eight weeks have passed since loss of the embryonic sac was confirmed by ultrasound. If these requirements are met, the TrisoNIM® Advance, TrisoNIM® Premium and TrisoNIM® Excellence tests can be performed.

*Fetal loss: disappearance of the gestational sac must always be confirmed by ultrasound.

TRISONIM® PREMIUM

• Analyses all chromosomes.
• Detects fetal trisomies 21, 13 and 18.
• Provides information on the most common sex chromosome aneuploidies and the sex of the fetus.
• Tests for 7 microdeletion syndromes: 1p36, 1q32-q41 (Van der Woude), 2q33.1, 5p15 (cri-du-chat), 10p14-13 (DiGeorge 2), 11q23-qter (Jacobsen) and 16p12-p11.
• BGI results software (NIFTY) with CE-IVD marking for trisomy 21.
• Detailed fetal fraction calculation, using a double algorithm and discarding samples with less than 3.5% fetal fraction, in accordance with international recommendations.

What requirements must patients fulfil to undergo TrisoNIM® PREMIUM?

• Be at least 10 weeks pregnant, confirmed by ultrasound.
• Pregnant with a single fetus.
• Invasive diagnosis not clinically indicated.

Turnaround time: 5 working days from receipt of the sample.
Reference: PRE1001

Please remember to attach the Informed Consent Form to the sample, which you will find on the right.

TRISONIM®  EXCELLENCE

• Analyses all chromosomes.
• Detects fetal trisomies 21, 13 and 18.
• Provides information on the most common sex chromosome aneuploidies and the sex of the fetus.
• Tests for 38 microdeletion syndromes with a 5Mb resolution.
• BGI results software (NIFTY) with CE-IVD marking for trisomy 21.
• Detailed fetal fraction calculation, using a double algorithm and discarding samples with less than 3.5% fetal fraction, in accordance with international recommendations.

What requirements must patients fulfil to undergo TrisoNIM®  EXCELLENCE?

• Be at least 10 weeks pregnant, confirmed by ultrasound.
• Pregnant with a single fetus.
• Invasive diagnosis not clinically indicated.

Turnaround time: 5 working days from receipt of the sample.
Reference:  PRE1005

Please remember to attach the Informed Consent Form to the sample, which you will find on the right.

TRISONIM®  NEOSEQ

• Aneuploidies in the 22 pairs of autosomal chromosomes, including the most common (chromosomes 21, 18 and 13).
• Numerical alterations in sex chromosomes.
• Genetic syndromes of microdeletion/microduplication of a size greater than 5 Mb.
• DiGeorge syndrome 22q11.2, with a microdeletion of a size of approximately 3 Mb.
• 6246 “pathogenic” or “probably pathogenic” variants present in 155 selected genes, and associated with 202 pathologies with an autosomal dominant inheritance pattern with a sensitivity and specificity of 99%.
• BGI results software (NIFTY) with CE-IVD marking for trisomy 21.
• Calculation of the detailed fetal fraction, using a double algorithm, discarding samples with less than 3.5% fetal fraction, according to international recommendations.

What requirements must patients fulfil to undergo TrisoNIM®  NEOSEQ?

• Be at least 12 weeks pregnant, confirmed by ultrasound.
• Pregnancies over 22 weeks will require a special informed consent form.
• Pregnant with a single fetus.
• Not suitable for egg donation.
• Invasive diagnosis not clinically indicated.

Turnaround time: 25 working days from receipt of the sample.
Reference:  PRE1005

Please remember to attach the Informed Consent Form to the sample, which you will find on the right.