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.

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:

(*) 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:

Causing cognitive disability
Requirement for surgical or medical intervention
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
HBB	603903 613985	Sickle cell anemia; β-thalassemia
XPC	278720	Xeroderma pigmentosum
TYR	203100 606952	Oculocutaneous albinism type 1A; OCA1B
CYP21A2	201910	Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
PAH	261600	Phenylketonuria
CFTR	219700	Cystic fibrosis
TNXB	606408	Ehlers–Danlos-like syndrome due to tenascin-X deficiency
HEXA	272800	Tay–Sachs disease
GJB2	220290 601544	Nonsyndromic hearing loss recessive 1A; Nonsyndromic hearing loss dominant 3A
DHCR7	270400	Smith–Lemli–Opitz syndrome
ATP7B	606882	Wilson disease
ASPA	271900	Canavan disease
ACADM	201450	Medium-chain acyl-coenzyme A dehydrogenase deficiency
NPHS1	256300	Finnish congenital nephrotic syndrome
PMM2	212065	Carbohydrate-deficient glycoprotein syndrome type Ia
FKTN	611615 253800	Walker–Warburg congenital muscular dystrophy; Cardiomyopathy, dilated, 1X
SLC26A4	600791 274600	Pendred syndrome Deafness autosomal recessive 4
ERCC2	610756 601675	Trichothiodystrophy 1, photosensitive Cerebrooculofacioskeletal syndrome 2
DYNC2H1	613091	Short-rib thoracic dysplasia 3 with or without polydactyly
CEP290	610188 611755	Leber congenital amaurosis 10 Joubert syndrome 5
GBE1	232500 263570	Glycogen storage disease, type I GBE1-related disorders
GAA	232300	Glycogen storage disease, type II (Pompe disease)
CHRNE	100725	Myasthenic syndrome, congenital, 4A, slow-channel Myasthenic syndrome, congenital, 4B, fast-channel
G6PC	232200	Glycogen storage disease type IA
OCA2	203200	Oculocutaneous albinism brown and type II
COL7A1	226600	Recessive dystrophic epidermolysis bullosa
ABCC8	618857	Diabetes mellitus, permanent neonatal 3
ALDOB	229600	Hereditary fructosuria
FANCC	227645	Fanconi anemia, complementation group C
GRIP1	617667	Fraser syndrome
BCKDHB	245600	Maple syrup urine disease
ANO10	613728	Spinocerebellar ataxia 10
NAGA	609241	Schindler disease, type 1 Schindler disease, type 3
SMPD1	257200 607616	Niemann–Pick disease, type A Niemann–Pick disease, type B
USH2A	276901	Usher syndrome, type 2A
MMUT	251000	Methylmalonic aciduria–methylmalonyl–CoA mutase deficiency
CPT2	600649 608836	Carnitine palmitoyltransferase II deficiency, infantile Carnitine palmitoyltransferase II deficiency, lethal neonatal
AHI1	608629	Joubert syndrome 3
DHDDS	613861	Congenital disorder of glycosylation type 1 Retinitis pigmentosa 59
SLC19A3	607483	Basal ganglia disease, biotin-responsive
GALT	230400	Galactosemia
CYP11A1	613743	Adrenal insufficiency, congenital, with 46, XY sex reversal, partial or complete
TF	209300	Atransferrinemia
MMACHC	277400	Methylmalonic aciduria with homocystinuria cblC type
ABCA3	610921	Surfactant metabolism dysfunction, pulmonary 3
GBA	230800 230900	Gaucher disease, type I Gaucher disease, type II
MCOLN1	252650	Mucolipidosis type IV
GNPTAB	252500 252600	Mucolipidosis type II alpha/beta Mucolipidosis type III alpha/beta
AGA	208400	Aspartylglucosaminuria
PCDH15	609533 602083	Usher syndrome, type 1F Deafness, autosomal recessive 23
FAH	276700	Tyrosinemia type I
AIRE	240300	Autoimmune polyendocrinopathy syndrome type I
BBS2	615981 616562	Bardet–Biedl syndrome 2 Retinitis pigmentosa 74
CYP27A1	213700	Cerebrotendinous xanthomatosis
CCDC88C	236600	Congenital hydrocephalus 1
FMO3	602079	Trimethylaminuria
TMEM216	608091 603194	Meckel syndrome 2 Joubert syndrome 2
CNGB3	262300	Achromatopsia 3
MCPH1	651200	Primary microcephaly 1, recessive
SLC37A4	232220 232240	Glycogen storage disease Ib Glycogen storage disease Ic
PRF1	603553	Hemophagocytic lymphohistiocytosis, familial, 2
SCO2	604377	Mitochondrial complex IV deficiency, nuclear type 2
AGXT	259900	Hyperoxaluria, primary type I
ACADVL	201475	Very long chain acyl-CoA dehydrogenase deficiency
ASL	207900	Argininosuccinate aciduria
EVC2	225500	Chondroectodermal dysplasia
ARSA	250100	Metachromatic leukodystrophy
MVK	260920 610377	Mevalonic aciduria Hyper-IgD syndrome
PKHD1	263200	Autosomal recessive polycystic kidney disease
BTD	253260	Biotinidase deficiency
ALPL	146300 241510	Hypophosphatasia, childhood and infantile Hypophosphatasia, adult
BBS1	209900	Bardet–Biedl syndrome 1
CLCN1	255700	Congenital myotonia, autosomal recessive form
CYP27B1	264700	Vitamin D–dependent rickets, type 1
POLG	203700 613662	Mitochondrial DNA depletion syndrome 4A Mitochondrial DNA depletion syndrome 4B
MCCC2	210210	3-methylcrotonyl CoA carboxylase 2 deficiency
MLC1	604004	Megalencephalic leukoencephalopathy with subcortical cysts
ACAT1	203750	ɑ-Methylacetoacetic aciduria
CC2D2A	612285 612284	Joubert syndrome 9 Meckel syndrome 6
SLC26A2	226900 600972	Achondrogenesis Ib Epiphyseal dysplasia, multiple, 4
CBS	236200	Homocystinuria, B6 responsive and nonresponsive
LRP2	222448	Donnai–Barrow syndrome
IDUA	607014 607015	Mucopolysaccharidosis, Ih (Hurler S) Mucopolysaccharidosis, Ih/s (Hurler–Scheie S)
FKRP	613153 606612	Muscular dystrophy–dystroglycanopathy, type B, 5 Muscular dystrophy–dystroglycanopathy, type A, 5
RNASEH2B	610181	Aicardi Goutieres syndrome 2
RARS2	611523	Pontocerebellar hypoplasia type 6
HBA1	604131	ɑ-Thalassemia
HBA2	604131	ɑ-Thalassemia
SMN1	253300 253550 253400 271150	Spinal muscular atrophy types: I, II, III, IV
HSP1	203300	Hermansky Pudlak S. 1
HPS3	614072	Hermansky Pudlak S. 3
ELP1	223900	Familial dysautonomia
FXN	229300	Friedreich ataxia
DLD	246900	Dihydrolipoamide dehydrogenase deficiency
NEB	256030	Nemaline myopathy 2
CLRN1	276902	Usher syndrome 3a
BLM	210900	Bloom syndrome
ABCD1	300100	Adrenoleukodystrophy (ALD)

ARX	308350	Developmental and epileptic encephalopathy 1 (DEE1)
DMD	300376 310200	Muscular dystrophy, Duchenne type (DMD) Becker type (BMD)
F8	300841	Hemophilia A (HEMA)
F9	306900	Hemophilia B (HEMA)
FMR1	300624	Fragile X syndrome (FXS)
GLA	301500	Fabry disease
L1CAM	307000	Hydrocephalus due to congenital stenosis of aqueduct of Sylvius (HSAS)
MID1	300000	Opitz GBBB syndrome, type I (GBBB1)
NR0B1	300200	Adrenal hypoplasia, congenital (AHC)
OTC	311250	Ornithine transcarbamylase deficiency
PLP1	312920	Spastic paraplegia 2, X-linked (SPG2)
RPGR	300029 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
RS1	312700	Retinoschisis 1, X-linked, juvenile (RS1)
SLC6A8	300352	Cerebral creatine deficiency syndrome 1 (CCDS1)

Documentation

Specialists

Clinical sheet

Download

Brochure

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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.

Cytogenetic screening in all chromosomes.

+150 genetic conditions analysed.

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.

Zenit by Nace

How is it the procedure?

Indications:

Benefits

Limitations

¿ Why extend the screening to inherited conditions?

Inherited mutation screening

Specifications, genes, and diseases

Screenings

Anomaly

Specificity

Sensibility

Inherited mutations syndromes screened with Zenit

OMIM gene symbol

OMIM gene

Conditions

Clinical sheet

Brochure

Relevant related studies:

FAQs

Igenomix and fertility

NACE

CGT

POC

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.

Cytogenetic screening in all chromosomes.

+150 genetic conditions analysed.

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.

Zenit by Nace

How is it the procedure?

Indications:

Benefits

Limitations

¿ Why extend the screening to inherited conditions?

Inherited mutation screening

Specifications, genes, and diseases

Screenings

Anomaly

Specificity

Sensibility

Inherited mutations syndromes screened with Zenit

OMIM gene symbol

OMIM gene

Conditions

Clinical sheet

Brochure

Relevant related studies:

FAQs

Igenomix and fertility

Other services

NACE

CGT

POC

Igenomix is in the media

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.