Panorama™ non-invasive Prenatal Test

Test code

MBN

Specimen

20 mL maternal blood + paternal buccal swab (optional)

Container

Cell free DNA streck tubes and buccal swab provided

Special instructions

If paternal cheek cells will be collected, remind father not to eat 30 minutes prior to collection and rinse his month right before collection

Collection

Fill 10 mL of blood in each of the Cell Free DNA Streck Tubes. 20-23 gauge needles are recommended. Allow 60-90 seconds for each tube to fill. Gently invert each tube 10 times immediately after draw. If father is present at time of visit, collect paternal cheek cells by swiping the brush back and forth across the inner lining of father's cheek for 60 seconds. The swiping should be firm but not painful

Causes for rejection

Leakage of blood; Clotted blood; Inappropiate containers; Bloody or glossy buccal swab

Description of analysis

To screen high-risk pregnancies of having extra or missing copies of chromosomes 21, 18, 13, X or Y. The mother’s DNA sample (and father’s, when submitted) is used as a comparison to the fetal DNA which allows us to return highly accurate fetal risk estimates. This screening test can detect over 99% of the abnormalities evaluated for chromosomes 21, 18 and 13 and about 92% of cases of Monosomy X

Test methodology

DNA isolated from the maternal blood, which contains fetal DNA, is amplified at 19,500 loci using a targeted PCR assay, and sequenced using an Illumina HiSeq highthroughput sequencer. Where available, paternal genomic DNA is amplified and sequenced using the same protocol. Sequencing data is analyzed using the NATUS algorithm to determine the fetal copy number for chromosomes 13, 18, 21, X and Y, thereby identifying any whole chromosome abnormalities at those chromosomes

Limitation

The test cannot be performed on the following conditions: Twins or multiple pregnancies; Gestational age under 9 weeks; Pregnancies conceived with an egg donor or those which used a surrogate; Women who have received a bone marrow transplant. If a paternal sample is submitted and non-paternity is identified, it will not be reported and the paternal sample will not be used in the analysis

Storage instruction

Specimen should be kept at room temperature. Do not refrigerate

Reference

Snijders RJ, et al. Maternal age- and gestation- specific risk for trisomy 21. Ultrasound Obstet Gynecol. 1999 Mar; 13(3): 167-70 Snijders et al. Maternal age and gestational age specific risk for chromosomal defects. Fetal Diagn Ther. 1995 Nov-Dec; 10(6): 356-67. Gravholt CH, et al. Prenatal and postnatal prevalence of Turner syndrome: a registry study. BMJ 1996; 312:16-21. Levy, B. et. al. Use of targeted sequencing of SNPs to achieve highly accurate non-invasive detection of fetal aneuploidy of chromosomes 13, 18, 21, and sex chromosomes in Society Of Maternal Fetal Medicine (San Francisco 2013). Zimmerman B, et al. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn 2012 Dec; 32(13): 1233-41

QUESTIONS?

+852 2147 4088