Information for health professionals

GYNECOLOGY
AND OBSTETRICS

Experience the power of

clinical genetic testing

TOMORROW Prenatal Test is CGC Genetics’ solution for non-invasive prenatal

testing. This is a non-invasive method that tests for fetal trisomy of chromosomes
21, 18 and 13, to identify fetal gender and to detect aneuploidies of sex
chromosomes (monosomy X, XXX, XXY, XYY).

EARLY DETECTION
Test can be performed as early as 10 weeks of gestation.

SIMPLE
Only a simple blood collection is required, with no prior preparation.

SAFE
Performing the test has no risk of miscarriage, commonly associated with invasive methods.

TURNAROUND TIME
Report ready in 6 business days on average (max 10).

TWIN PREGNANCY
Trisomy detection for chromosomes 21, 18 and 13 can also be performed in twin pregnancies (two fetuses).

IVF/EGG DONATION
TOMORROW Prenatal Test can be performed in IVF/egg donations.
 Experience the power of clinical genetic testing
GYNECOLOGY AND OBSTETRICS

FETAL FRACTION
Includes fraction of fetal DNA estimated to be present in the analyzed sample, in accordance with the latest recommendation of
the American College of Medical Genetics (ACMG).

RELIABLE TEST
There are important differences between noninvasive prenatal tests that you should take into account in your decision.
TOMORROW is an accurate test with a false positive and false negative rate of less than 0.5%.

Sensitivity Specificity
Trisomy 21 99.14% 99.94%
Trisomy 18 98.31% 99.90%
Trisomy 13 98.15% 99.95%
Monosomy X 95.00% 99.00%

MOST ADVANCED TECHNOLOGY

TOMORROW uses state-of-the-art genetic analysis technology: the Next Generation Sequencing (NGS) to analyze circulating free
DNA in maternal blood. From a sample of maternal blood, the circulating DNA, maternal and fetal-placental DNA, is sequenced
and the number of specific sequences of each of the chromosomes of interest is determined. A complex bioinformatic analysis
allows the copy-number of each of the chromosomes of interest to be calculated.

FREE OF CHARGE CONFIRMATION

In case of increased risk, confirmation of the result with invasive prenatal testing is recommended. For such cases, CGC Genetics
provides QF-PCR analysis (24-48 hours), and chromosome analysis (karyotype). Confirmation analyzes in these cases are
performed free of charge.

PLEASE NOTE:
TOMORROW Prenatal Test is not available in USA, Canada, China and Japan.

TOMORROW TEST DETECTS

SEX
CHROMOSOME
TRISOMY 21 ANEUPLOIDIES: FETAL GENDER
TRISOMY 18 Monosomy X Male / Female
TRISOMY 13 XXX
XXY
XYY

MEDICAL BLOOD RESULTS SENT TO

APPOINTMENT AND COLLECTION THE PHYSICIAN
REQUISITION FORM

TOMORROW in three simple steps:

1. Blood collection from week 10 of gestation.
2. Send blood sample (7-10 mL) for analysis, collected
in the supplied tube.
3. Receive the test results in 6 working days (maximum
10).
CGC GENETICS
LABORATORY
 Experience the power of clinical genetic testing
GYNECOLOGY AND OBSTETRICS

For Gynecology and Obstetrics, CGC Genetics offers a list of tests integrated in
multiple aspects:

Prenatal Diagnosis
• Array CGH. Chromosomal analysis through a microarray, or array CGH, is a high
resolution analytical method that allows a detailed study of the whole genome, and
can detect deletions and duplications not visible under the microscope. The solution
provided by CGC Genetics has the highest analytical resolution along with the clinical
interpretation of results ensured by our medical geneticists.

We have array CGH with the resolution that best suits cases of prenatal diagnosis.
International recommendations on the use of this prenatal test are:
> Structural ultrasound abnormalities;
> Increased nuchal translucency;
> Apparently balanced translocations and inversions, and other structural chromosomal rearrangements;
> Family studies - search for familial microdeletions /microduplications in the fetus.

• NGS panels. CGC Genetics has several NGS panels available which allow, in a single test, to sequence several genes associated
with a pathology or phenotype. In particular for prenatal diagnosis, we provide the following NGS panels:
> Craniosynostoses (NGS panel for 5 genes),
> Noonan syndrome and Noonan spectrum (NGS panel for 9 genes),
> Skeletal dysplasias (NGS panel for 6 genes).

• Chromosome Analysis (Karyotype) in amniotic fluid or chorionic villus sample.

• QF-PCR (Quantitative Fluorescence Polymerase Chain Reaction) for fast testing of the most frequent aneuploidies (on
chromosomes 13, 18, 21, X and Y) in amniotic fluid or chorionic villus.

• Familial genetic studies - search for familial mutations in the fetus

• Genetic diagnosis - in the presence of structural alterations compatible with specific genetic disease.

Combined Prenatal Screening

The prenatal screening allows the identification of pregnant women at increased risk for major trisomies: 21, 18 and 13. This
test combines values ​​of biochemical parameters (free ßhCG and PAPP-A) with echographic parameters (nuchal translucency and
nasal bones).

Oncology, including Breast Cancer

• Sequencing analysis of BRCA1 and BRCA2 genes
• Del/Dup analysis of BRCA1 and BRCA2 genes
• Familial mutations of hereditary cancer
• Sequencing panel for 10 genes associated with breast / ovarian cancer
• Sequencing panel for 26 genes associated with breast / ovarian cancer

Embryofetal Pathology
This laboratory preferably performs examinations in the areas of obstetric surgical pathology and autopsy, namely:
• Early abortion: embryo and gestational sac (<11 weeks)
• Placenta
• Fetal / neonatal autopsy (> 11 weeks)
• Surgical specimens (ectopic pregnancy and uterine pathology of pregnancy)
 Experience the power of clinical genetic testing
GYNECOLOGY AND OBSTETRICS

Infertility
• Etiologic study of infertility (premature ovarian failure, Y chromosome microdeletions, congenital bilateral agenesis of vas
deferens, 21-hydroxylase deficiency, and peripheral blood karyotype)
• Thrombophilia study

Carrier study

FEMALE MALE

Cystic fibrosis Cystic fibrosis NGS full sequencing of

Fragile X Syndrome Spinal muscular atrophy most prevalent 101 rare

Spinal muscular atrophy Sickle cell disease disease-causing genes

Sickle cell disease

BASIC GENETIC CARRIER TEST PREMIUM GENETIC

CARRIER TEST

Other Studies
For Gynecology and Obstetrics, CGC Genetics has an extensive list of genetic tests in addition to these mentioned here, in
particular for prenatal diagnosis of specific genetic diseases. For more information on these and other tests, please contact us or
check our website at www.cgcgenetics.com.

FOR MORE INFORMATIONS: CGC GENETICS

MKT.01.06 (EN) 12-12-2017

WWW.CGCGENETICS.COM EXPERIENCE THE POWER OF CLINICAL GENETIC TESTING

Founded in 1992, CGC Genetics is one of the main European clinical genetics laboratories
and leader in medical genetic tests in Portugal. CGC Genetics, with headquarters in Porto,
reinforced its investment in Lisbon, USA (Newark) and Spain (Madrid) and, receives
INTERNATIONAL samples for genetic testing from all over the world, including hospitals, national and
CUSTOMERCARE@CGCGENETICS.COM international, public and private, medical clinics, insurance companies and universities.
Using vanguard technologies and strict quality policies, CGC Genetics has a clinical
department with 5 Medical Genetics Specialists. In addition, more than 80 highly qualified
PORTUGAL Geneticists are divided into 5 different laboratory areas: Clinical Genomics, Molecular
DCC@CGCGENETICS.COM | +351 223 389 900 Diagnostics, Cytogenetics, Prenatal screening and Pathology, offering more than 4 000
genetic tests for prenatal diagnostic and screening, hematology, oncology, neurology,
ophthalmology, cardiology, preventive medicine, common and rare diseases, pharmacoge-
SPAIN netics/clinical trials. It has wide experience in Array CGH, NGS panels, Disease Exome and
CLIENTES@CGCGENETICS.COM | +34 914 261 144 Whole Exome Sequencing, analyzed and interpreted with a high clinical integration. The
large investment in R&D of new and unique tests, positioned CGC Genetics as an
international reference center (with more than 3 800 entries in different directories of
genetic tests), being the exclusive diagnostic test provider for some disorders.
USA For more information, please contact us: customercare@cgcgenetics.com
INFO@CGCGENETICS.COM

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