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        Zenit

        Zenit by Nace

        Zenit by NACE is an advanced non-invasive test that takes prenatal screening to a new level. It offers
        the broadest coverage in pregnancy risk assessment covering more than 150 genetic conditions.

        • General description
        • Criteria
        • Genes and diseases
        • Documentation
        • Scientific evidence

        Cytogenetic screening in all chromosomes.

        +150 genetic conditions analysed.

        POC Products of Conception

        112 single gene disorders associated with severe hereditary diseases.

        Increases the detection rate of genetic diseases by a factor of five vs. other traditional screening methods.

        Are you interested?

        Request information
        Or Email us at nacespain@igenomix.com
        General description
        • Zenit by Nace
        • Indications
        • Benefits
        • Limitations

        Zenit by Nace

        Approximately 1 in 80 pregnancies may be affected by one of the genetic conditions screened by the new test Zenit.

        Zenit represents a redefinition of the current concept of prenatal screening since it analyses a comprehensive battery of clinical conditions relevant to the well-being of the future baby. This will give a greater peace of mind for the patient.

        Zenit offers a new added value to prenatalrisk assessment, non-contemplated with the current approaches.

        • Besides assessing the risk of chromosome aneuploidies in the foetus, Zenit screens for 112
          single gene disorders of moderate to severe phenotypes with significant impact on the quality of life.
        • Increases the detection rate by a factor of five compared to other basic screening tests.
        • Increases the detection rate by a factor of three compared to the most complete non-
          invasive prenatal test.

        Zenit by Nace offers the most complete clinical approach for:

        • Cytogenetic conditions screening: Screens for whole aneuploidies in all chromosomes and
          deletions/duplications with a resolution comparable to the karyotype test.
        • Inherited mutations screening: Evaluates the risk of transmission of more than 100 recessive
          conditions. A Gene panel recommended by the American College of Medical genetics and
          genomics (ACMG).

        How is it the procedure?

        Indications:

        • About 3-4% of all births are affected by a genetic disorder:
          • Zenit by NACE is recommended for patients willing to have the most comprehensive and complete
            picture of the risks attributed to genetic disorders during a pregnancy

        (*) https://www.eurordis.org/IMG/pdf/princeps_document-EN.pdf

         

        Benefits

        • Reduces unnecessary invasive procedures (compared to the traditional first-trimester
          screening).
        • Enables an early screening of pathologies not associated with ultrasound anomalies during
          pregnancy.
        • Knowing whether or not the foetus has one of these significant and often serious genetic
          disorders allows healthcare providers and families to form a plan of care, including but not
          limited to genetic counselling, specialist referrals, confirmatory studies, and delivery care.
        • Includes pre and potential post-test counselling.
        • Informs the couple if they are carriers of mutations in the studied conditions.

        Limitations

          • It is not a diagnostic test, therefore, any high-risk result must be confirmed/ruled out by an
            invasive procedure.
          • Zenit by NACE does not include inherited mutation screening different from those included
            in the previous list*.
          • The inherited mutation screening is unsuitable for parents from gamete donations
            programs**.
          • Germinal mosaicism (mutations present in the gametes) is not detected throughout this
            analysis since the biological material is obtained from a blood draw.
          • A negative result does not entirely rule out the presence of de novo mutations in the studied
            genes in the offspring.
          • The fetal fraction is a component of the analysis algorithm and is combined with other
            quality metrics to determine the confidence in the results. With the technology used, a
            minimum of 2% foetal fraction is necessary to consider a result as informative.

        *If your gene of interest is not included in the analysis, please contact us at
        prenataldiagnosis@igenomix.com

        **For patients who have resorted to gamete donation, performing the cytogenetic conditions
        screening is possible. For these cases, please contact us at prenataldiagnosis@igenomix.com

        Criteria

        ¿ Why extend the screening to inherited conditions?

        The conditions screened relates to at least one of the following criteria:

        1. Causing cognitive disability
        2. Requirement for surgical or medical intervention 
        3. Affecting quality of life. 

         

        Inherited mutation screening 

        • The test Zenit by NACE test covers a wide range of single-gene genetic disorders recommended by the leading professional societies. 
        • The recessive conditions are those in which both copies of the same gene are mutated. People with only one defective gene in the pair are called carriers. These people are often not affected by the condition. 
        • If both parents have the same mutated gene, thereis a 25% of chance that their child will be
          born with a severe disease.
           

        Knowing this information enables:

        • To manage the ongoing pregnancy the best way possible
        • Take the appropriate measures to encourage the birth of a healthy baby in future
          pregnancies.
        Genes and diseases

        Specifications, genes, and diseases

        Screenings

        Anomaly

        Specificity

        Sensibility

        Cytogenetic screenings

        Trisomy 21
        Trisomy 18
        Trisomy 13
        Other chromosomes
        Deletions/duplications >7 Mb

        99.9%
        99.9%
        99.9%
        99.8%
        99.8%
        >99.9%
        >99.9%
        >99.9%
        96.4%
        74.1%
            
        Inherited mutation screening(See next table)>99.9%>99.9%

         

        Inherited mutations syndromes screened with Zenit

        OMIM gene symbol

        OMIM gene

        Conditions

        HBB603903
        613985
        Sickle cell anemia; β-thalassemia
        XPC278720Xeroderma pigmentosum
        TYR203100
        606952
        Oculocutaneous albinism type 1A; OCA1B
        CYP21A2201910Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
        PAH261600Phenylketonuria
        CFTR219700Cystic fibrosis
        TNXB606408Ehlers–Danlos-like syndrome due to tenascin-X deficiency
        HEXA272800Tay–Sachs disease
        GJB2220290
        601544

        Nonsyndromic hearing loss recessive 1A;

        Nonsyndromic hearing loss dominant 3A

        DHCR7270400Smith–Lemli–Opitz syndrome
        ATP7B606882Wilson disease
        ASPA271900Canavan disease
        ACADM201450Medium-chain acyl-coenzyme A dehydrogenase deficiency
        NPHS1256300Finnish congenital nephrotic syndrome
        PMM2212065Carbohydrate-deficient glycoprotein syndrome type Ia
        FKTN611615
        253800

        Walker–Warburg congenital muscular dystrophy;

        Cardiomyopathy, dilated, 1X

        SLC26A4600791
        274600

        Pendred syndrome

        Deafness autosomal recessive 4

        ERCC2610756
        601675

        Trichothiodystrophy 1, photosensitive

        Cerebrooculofacioskeletal syndrome 2

        DYNC2H1613091Short-rib thoracic dysplasia 3 with or without polydactyly
        CEP290610188
        611755

        Leber congenital amaurosis 10

        Joubert syndrome 5

        GBE1232500
        263570

        Glycogen storage disease, type I

        GBE1-related disorders

        GAA232300Glycogen storage disease, type II (Pompe disease)
        CHRNE100725

        Myasthenic syndrome, congenital, 4A, slow-channel

        Myasthenic syndrome, congenital, 4B, fast-channel

        G6PC232200Glycogen storage disease type IA
        OCA2203200Oculocutaneous albinism brown and type II
        COL7A1226600Recessive dystrophic epidermolysis bullosa
        ABCC8618857Diabetes mellitus, permanent neonatal 3
        ALDOB229600Hereditary fructosuria
        FANCC227645Fanconi anemia, complementation group C
        GRIP1617667Fraser syndrome
        BCKDHB245600Maple syrup urine disease
        ANO10613728Spinocerebellar ataxia 10
        NAGA609241

        Schindler disease, type 1

        Schindler disease, type 3

        SMPD1257200
        607616

        Niemann–Pick disease, type A

        Niemann–Pick disease, type B

        USH2A276901Usher syndrome, type 2A
        MMUT251000Methylmalonic aciduria–methylmalonyl–CoA mutase deficiency
        CPT2600649
        608836

        Carnitine palmitoyltransferase II deficiency, infantile

        Carnitine palmitoyltransferase II deficiency, lethal neonatal

        AHI1608629Joubert syndrome 3
        DHDDS613861

        Congenital disorder of glycosylation type 1

        Retinitis pigmentosa 59

        SLC19A3607483Basal ganglia disease, biotin-responsive
        GALT230400Galactosemia
        CYP11A1613743Adrenal insufficiency, congenital, with 46, XY sex reversal, partial or complete
        TF209300Atransferrinemia
        MMACHC277400Methylmalonic aciduria with homocystinuria cblC type
        ABCA3610921Surfactant metabolism dysfunction, pulmonary 3
        GBA230800
        230900

        Gaucher disease, type I

        Gaucher disease, type II

        MCOLN1252650Mucolipidosis type IV
        GNPTAB252500
        252600

        Mucolipidosis type II alpha/beta

        Mucolipidosis type III alpha/beta

        AGA208400Aspartylglucosaminuria
        PCDH15609533
        602083

        Usher syndrome, type 1F

        Deafness, autosomal recessive 23

        FAH276700Tyrosinemia type I
        AIRE240300Autoimmune polyendocrinopathy syndrome type I
        BBS2615981
        616562

        Bardet–Biedl syndrome 2

        Retinitis pigmentosa 74

        CYP27A1213700Cerebrotendinous xanthomatosis
        CCDC88C236600Congenital hydrocephalus 1
        FMO3602079Trimethylaminuria
        TMEM216608091
        603194

        Meckel syndrome 2

        Joubert syndrome 2

        CNGB3262300Achromatopsia 3
        MCPH1651200Primary microcephaly 1, recessive
        SLC37A4232220
        232240

        Glycogen storage disease Ib

        Glycogen storage disease Ic

        PRF1603553Hemophagocytic lymphohistiocytosis, familial, 2
        SCO2604377Mitochondrial complex IV deficiency, nuclear type 2
        AGXT259900Hyperoxaluria, primary type I
        ACADVL201475Very long chain acyl-CoA dehydrogenase deficiency
        ASL207900Argininosuccinate aciduria
        EVC2225500Chondroectodermal dysplasia
        ARSA250100Metachromatic leukodystrophy
        MVK260920
        610377

        Mevalonic aciduria

        Hyper-IgD syndrome

        PKHD1263200Autosomal recessive polycystic kidney disease
        BTD253260Biotinidase deficiency
        ALPL146300
        241510

        Hypophosphatasia, childhood and infantile

        Hypophosphatasia, adult

        BBS1209900Bardet–Biedl syndrome 1
        CLCN1255700Congenital myotonia, autosomal recessive form
        CYP27B1264700Vitamin D–dependent rickets, type 1
        POLG203700
        613662

        Mitochondrial DNA depletion syndrome 4A

        Mitochondrial DNA depletion syndrome 4B

        MCCC22102103-methylcrotonyl CoA carboxylase 2 deficiency
        MLC1604004Megalencephalic leukoencephalopathy with subcortical cysts
        ACAT1203750ɑ-Methylacetoacetic aciduria
        CC2D2A612285
        612284

        Joubert syndrome 9

        Meckel syndrome 6

        SLC26A2226900
        600972

        Achondrogenesis Ib

        Epiphyseal dysplasia, multiple, 4

        CBS236200Homocystinuria, B6 responsive and nonresponsive
        LRP2222448Donnai–Barrow syndrome
        IDUA607014
        607015

        Mucopolysaccharidosis, Ih (Hurler S)

        Mucopolysaccharidosis, Ih/s (Hurler–Scheie S)

        FKRP613153
        606612

        Muscular dystrophy–dystroglycanopathy, type B, 5

        Muscular dystrophy–dystroglycanopathy, type A, 5

        RNASEH2B610181Aicardi Goutieres syndrome 2
        RARS2611523Pontocerebellar hypoplasia type 6
        HBA1604131ɑ-Thalassemia
        HBA2604131ɑ-Thalassemia
        SMN1253300
        253550
        253400
        271150
        Spinal muscular atrophy types: I, II, III, IV
        HSP1203300Hermansky Pudlak S. 1
        HPS3614072Hermansky Pudlak S. 3
        ELP1223900Familial dysautonomia
        FXN229300Friedreich ataxia
        DLD246900Dihydrolipoamide dehydrogenase deficiency
        NEB256030Nemaline myopathy 2
        CLRN1276902Usher syndrome 3a
        BLM210900Bloom syndrome
        ABCD1300100Adrenoleukodystrophy (ALD)
           
        ARX308350Developmental and epileptic encephalopathy 1 (DEE1)
        DMD300376
        310200

        Muscular dystrophy, Duchenne type (DMD)

        Becker type (BMD)

        F8300841Hemophilia A (HEMA)
        F9306900Hemophilia B (HEMA)
        FMR1300624Fragile X syndrome (FXS)
        GLA301500Fabry disease
        L1CAM307000Hydrocephalus due to congenital stenosis of aqueduct of Sylvius (HSAS)
        MID1300000Opitz GBBB syndrome, type I (GBBB1)
        NR0B1300200Adrenal hypoplasia, congenital (AHC)
        OTC311250Ornithine transcarbamylase deficiency
        PLP1312920Spastic paraplegia 2, X-linked (SPG2)
        RPGR300029
        300455
        300834

        Retinitis pigmentosa 3 (RP3; RP)

        Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness

        Macular degeneration, X-linked atrophic

        Cone-rod dystrophy 1, X-linked

        RS1312700Retinoschisis 1, X-linked, juvenile (RS1)
        SLC6A8300352Cerebral creatine deficiency syndrome 1 (CCDS1)
        Documentation
        • Specialists

        Clinical sheet

        Download

        Brochure

        Download
        Scientific tests

        Relevant related studies:

        Gregg, A. R., Aarabi, M., Klugman, S., Leach, N. T., Bashford, M. T., Goldwaser, T., Chen, E., Sparks, T. N., Reddi, H. V., Rajkovic, A., Dungan, J. S. and Committee, A. P. P. a. G. (2021) ‘Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)’, Genet Med, 23(10), pp. 1793-1806.

        Ali, T. M., Mateu-Brull, E., Balaguer, N., Dantas, C., Borges, H. R., de Oliveira, M. Q. G., Rodrigo, L., Campos-Galindo, I., Navarro, R. and Milán, M. (2021) ‘Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by cell-free foetal DNA (cffDNA) testing: a case report’, Eur J Med Res, 26(1), pp. 64.

        Balaguer, N., Mateu-Brull, E. and Milán, M. (2021) ‘Non-invasive prenatal testing (NIPT)’, in Simón, C. and Rubio, C. (eds.) Handbook of New Genetic Diagnostic Technologies in Reproductive Medicine. 2nd ed: CRC press.

        Balaguer, N., Mateu-Brull, E., Naja, R. P., Nagi, J. B. and Milán, M. (2021) ‘Chromosome Y as a marker for sex discrepancies in patients with organ transplants: a case report’, Mol Cytogenet, 14(1), pp. 3.

        Balaguer, N., Mateu-Brull, E., Serra, V., Simón, C. and Milán, M. (2020) ‘Should vanishing twin pregnancies be systematically excluded from cell-free fetal DNA testing?’, Prenat Diagn.

        Milan, M., Mateu, E., Blesa, D., Clemente-Ciscar, M. and Simon, C. (2018) ‘Fetal sex determination in twin pregnancies using cell free fetal DNA analysis’, Prenat Diagn.

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