In addition to the expanded BabySEQ panel, the BabySEQ Rare package also screens for Spinal Muscular Atrophy (SMA), Cystic Fibrosis, and Fragile X syndrome.
What is BabySEQ?
BabySEQ is a highly reliable NIPT (Non-Invasive Prenatal Screening) method. Without requiring any invasive procedures that may pose risks, BabySEQ is a next-generation screening test that evaluates all chromosomal number abnormalities and microdeletion/microduplication disorders that may be present in the fetus. Currently, tests such as BabySEQ that utilize “whole genome sequencing” technology demonstrate the highest known success rates in screening for these conditions. The analyses of the BabySEQ test designed at our center (including bioinformatics analyses) are also performed in-house at our center. Depending on preference, two separate panels are available for chromosomal disorders.
What is BabySEQ Rare?
This package includes the following components:
- Expanded BabySEQ Panel from the Fetus
- SMA MLPA + SMA Full Gene + Cystic Fibrosis Full Gene testing from the mother and father
- Fragile X Repeat Number testing from the mother
BabySEQ is a highly reliable screening test for chromosomal disorders. However, many non-chromosomal genetic conditions can also cause concern within families. To address these concerns, carrier screening for three specific conditions has been added to the BabySEQ test. In this package, referred to as BabySEQ Rare, all chromosomes as well as microdeletions and duplications are analyzed in the fetus. In addition, carrier screening for SMA and Cystic Fibrosis is performed using samples from both parents, and carrier screening for Fragile X is performed using a maternal sample. If a risk is identified for the fetus based on test results, both the clinician and the family will be informed, and additional tests will be planned if necessary according to the findings.
For this test, it is recommended to collect one tube of blood from the father in a purple-top tube and one tube of blood from the mother using the BabySEQ blood collection tube provided by VERA INTERGEN.