The most complete package of Non-Invasive Prenatal Testing (NIFTY PRO, BGI) becomes even more upgraded. There are currently NIPT (Non Invasive Prenatal Screening) tests that promise fetal testing for spot mutations. In reality, however, parents are screened for point mutations, which on the one hand are limited (for example, less than 100 mutations are controlled in Cystic Fibrosis) and on the other hand, they fail to control important diseases such as Spinal Muscular Atrophy. The samples we have tested for Cystic Fibrosis in our laboratory in recent years (we test about 300 samples per month, according to ISO 15189 NGS Methodology) prove that any test less than CFTR full gene sequencing with NGS endangers the fetus. We have detected extremely rare mutations in all exons as well as mutations with digenic effect (publication in preparation).
To determine if a NIPT test actually checks the fetus for mutations and not indirectly the parents for a stretcher test, the simple question must be answered: THE TEST CAN TEST DENOVO METAL METHODS IN THE EMBRYO, UNDER C If the answer is yes it means that the test REALLY detects point mutations in the fetus. Any answer should be written in the result report.
NIFTY GOLD includes that of NIFTY PRO with additional mother control (carrier screening) for:
1. 99.6% of Cystic Fibrosis with NGS,
2. 97% of B-Glovin with NGS,
3. SMN1 Spinal Muscular Atrophy (~ 95%), with MLPA,
4. SMN1 "2 + 0" (SMN1 silent carrier) genotype detection with NGS and
5. neonatal screening for 60 metabolic diseases from a Guthrie card, with mass spectroscopy and ELISA.
After the 10th week. The response time of the test varies from 1 to 2 weeks.