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PATIENT TEST INFORMATION - INFORMAII TESTARE PACIENT

Non-Invasive Prenatal Genetic Screening - Examinare genetic prenatal non-invaziv


For the physician: this test information sheet should be reviewed together with the patient prior to signing the consent form.

Pentru medic: prezenta fi de informaii de testare ar trebui s fie parcurs mpreun cu pacientul nainte de semnarea formularului de consimmnt.

What is NIFTY?
NIFTY stands for Non-Invasive Fetal TrisomY test. It is a genetic screening test pregnant women can take from week 10 of their pregnancy.
The NIFTY test determines the risk of the baby having trisomy 21, trisomy 18 or trisomy 13. The term "trisomy" is used to describe the presence of an extra chromosome or three instead of the
usual pair. For example, trisomy 21 (Down syndrome) occurs when a baby is born with three copies of chromosome 21. NIFTY also offers additional testing for certain sex chromosome aneuploidies
(an abnormal number of sex chromosomes), deletion syndromes (a loss of part of a chromosome) and inherited genetic disorders (a disorder caused by a gene mutation, which is passed down from
parent to child). We offer these additional tests as optional extras at no extra cost (see details below). Should you wish to know, the NIFTY test can also provide gender information.

Ce este NIFTY?
NIFTY reprezint un test non-invaziv de detectare a trisomiilor fetale. Este un test genetic de screening pe care femeile nsrcinate l pot efectua ncepnd cu sptmna 10
de sarcin. Testul NIFTY determin riscul de apariie la ft al trisomiei 21, trisomiei 18 sau trisomiei 13. Termenul trisomie se folosete pentru a descrie prezena unui
cromozom suplimentar trei cromozomi n loc de perechea obinuit. De exemplu, trisomia 21 (sindromul Down) apare atunci cnd un copil se nate cu trei copii ale
cromozomului 21. NIFTY ofer de asemenea testri suplimentare ale altor aneuploidii ale cromozomilor de sex (un numr anormal de cromozomi de sex), sindroame de
deleie a unui fragment cromozomial (o pierdere a unei pri dintr-un cromozom) i alte boli determinate de mutaii genetice motenite (tulburare cauzat de o mutaie
genetic, care este transmis de la printe la copil). Oferim aceste testri suplimentare ca servicii opionale, fr costuri adiionale (a se vedea detaliile mai jos). Dac v
exprimai acordul, testul NIFTY ofer informaii privind sexul ftului.

How does NIFTY work?


During pregnancy DNA originating from the baby circulates in the mothers blood. NIFTY works by taking a small blood sample of around 10ml from the mother and comparing the total maternal and
fetal DNA in this sample to a control sample using advanced bioinformatics analysis. The test poses no risk to the mother or baby

n ce const NIFTY?
n timpul sarcinii ADN-ul provenind de la ft circul n sngele mamei. NIFTY presupune prelevarea unei probe de snge de aproximativ 10 ml de la mam i compararea
ADN-ului total matern i fetal din aceast prob cu o prob de control prin intermediul unei analize bioinformatice avansate. Testul nu prezint nici un risc pentru mam sau
ft.

Test Result Information


Your test results will be sent to the healthcare provider at which you ordered the NIFTY test. In around 2.5% of samples received there is inadequate concentration of fetal DNA in the blood sample.
In these cases your sample must be reanalysed and you may experience a mild delay in receiving your report.

Low Riskmeans there is a very low chance of the baby having an abnormal number of chromosomes for the conditions tested for. For singleton pregnancies the risk score will be listed on the
NIFTY report provided to you. For twin pregnancies a general risk assessment will be given.

High Risk indicates the baby has an increased chance of having one of the genetic conditions tested for. For singleton pregnancies the risk score will be listed on the NIFTY report provided to
you. For twin pregnancies a general risk assessment will be given.
Note, NIFTY is NOT a diagnostic test, a high risk result should be followed by confirmatory diagnostic testing.

Resample Required In a small number of cases (around 2.8%*** of all samples received) we are unfortunately unable to analyse the fetal DNA in enough det ail in order to provide you with a
result. In these cases we require a new blood sample in order to run a new test. There is no additional cost for resampling.

No Call means that we have been unable to detect a result despite resampling. The incidence of this happening is extremely low at only 0.069%*** of all samples received. In such cases, a refund
of the NIFTY test will be issued.

Rezultatele obinute la test


Rezultatele testului dvs vor fi trimise ctre medicul genetician la care ai efectuat testul NIFTY. n aproximativ 2,5% dintre probele primite exist o concentraie inadecvat de
ADN fetal n sangele matern. n aceste cazuri, proba trebuie s fie reanalizat i este posibil s apar o mic ntrziere n primirea raportului.

"Risc sczut" nseamn c exist o ans foarte sczut ca ftul s aib una dintre afeciunile testate. Pentru sarcinile cu un singur ft, scorul de risc va fi listat n raportul
NIFTY care v va fi nmnat. Pentru sarcinile gemelare va fi furnizat o evaluare general a riscurilor.

"Risc ridicat" indic faptul c ftul prezint un risc ridicat de a avea una dintre afeciunile genetice testate. Pentru sarcinile cu un singur ft, scorul de risc va fi listat n
raportul NIFTY care v va fi nmnat. Pentru sarcinile gemelare va fi furnizat o evaluare general a riscurilor.
Not: NIFTY NU este un test de diagnostic, un rezultat cu risc ridicat ar trebui s fie urmat de teste de confirmare a diagnosticului.

"Necesitate prelevare prob nou". n aproximativ 2,8%*** din cazuri, ADN-ul fetal nu poate fi analizat detaliat, ceea ce face imposibil eliberarea rezultatului. n aceste
cazuri este necesar o nou prob de snge pentru efectuarea unui nou test. Aceast procedur nu presupune costuri suplimentare.

"Neconcludent" nseamn c nu s-a putut stabili un rezultat, n ciuda unei noi prelevri. ansele ca acest lucru s se ntmple sunt extrem de sczute, doar 0,069%***din
toate probele primite. n astfel de cazuri, se ofer o rambursare a costurilor pentru testul NIFTY.

Test Information
- Although the NIFTY test is highly accurate for identification of trisomies 21, 18 and 13, NIFTY is NOT a diagnostic test and may result in a false positive or false negative result. In order to
definitively confirm whether a condition exists, a diagnostic procedure, such as amniocentesis, is required. It is recommended that a HIGH RISK result is always confirmed by a diagnostic procedure.
In some cases follow up confirmatory testing based on these test results could uncover maternal chromosomal or genetic conditions.
- Potential sources of false positive or false negative results include but are not limited to maternal, fetal and/or placental mosaicism (mixtures of chromosomally normal and abnormal cells in the
pregnancy) balanced or unbalanced translocation, chromosomal inversion or other chromosomal abnormality in either parent, maternal metastatic cancer and low fetal fraction. Patients who have
received a blood transfusion, within one year prior to testing date, transplant surgery, immunotherapy and stem cell therapy are not eligible for NIFTY test. NIFTY is also unable to accept samples
the cases of vanishing twin syndrome where developmental arrest have been identified as accuring after week 8 of pregnancy, or within 8 weeks prior to NIFTY testing date.
- Prior to testing, you should consult with a qualified healthcare provider as to whether any of these conditions apply to you and/or advise your healthcare provider if you are already aware that any of
these conditions apply to you. Test results should always be interpreted in the context of other clinical and family information.
- The result of the test does not eliminate the possibility of other abnormalities of the tested chromosomes and it does not test for other genetic disorders or birth defects.
- Testing is available for twin pregnancies for trisomies 21, 18 and 13 only. Testing is available for egg donor and IVF pregnancies for all trisomy conditions screened for.

Before undertaking any non-invasive prenatal testing and thereafter, you should consult with a qualified healthcare professional regarding any risks diagnoses, treatment and/or any other potentially
relevant healthcare issues. A healthcare professional can supply more information about the conditions being tested for, and whether you should consider testing. You should never make decisions
regarding your pregnancy without prior consultations with a qualified healthcare professional who is aware of the healthcare regulations relevant to your country of residence. BGI does not administer
NIFTY tests directly. Rather, NIFTY tests are administered by BGIs local partners.

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Informaii despre test

- Dei testul NIFTY este precis n identificarea trisomiilor 21, 18 i 13, NIFTY NU este un test de diagnostic i poate duce la un rezultat "fals pozitiv" sau "fals negativ".
Pentru a confirma existena unei afeciuni este necesar o tehnic de diagnostic, cum ar fi amniocenteza. Se recomand ca un rezultat de RISC CRESCUT s fie ntotdeauna
verificat printr-o procedur de diagnostic prenatal. n unele cazuri, pe baza acestor rezultate, testarea ulterioar de confirmare poate duce la descoperirea unor afeciuni
genetice sau cromozomiale materne.

- Cauzele poteniale ale rezultatelor fals pozitive sau fals negative includ, dar nu se rezum la mozaicismul cromozomial matern, fetal i/sau placentar (combinaii de celule
cromozomiale normale i anormale n timpul sarcinii), translocaia echilibrat sau dezechilibrat, inversia cromozomial sau alt anormalitate cromozomial la unul dintre
prini, cancer metastazic matern, fraciuni sczute de ADN fetal. Pacienii care au efectuat o transfuzie de snge n decursul ultimului an nainte de data testrii, transplant
chirurgical, terapie cu celule stem nu sunt eligibili pentru testul NIFTY. NIFTY este, de asemenea, n imposibilitatea de a accepta probe n cazul sindromului "geamnului
disprut", unde stoparea dezvoltrii a survenit dup sptmna a 8-a de sarcin sau cu mai puin de 8 sptmni nainte de testarea NIFTY.

- nainte de a efectua testul, ar trebui s consultai un medic genetician pentru a vedea dac oricare dintre aceste condiii se aplic n cazul dumneavoastr i/sau s cerei
sfatul personalului medical dac tii c suferii deja de oricare dintre aceste afeciuni. Rezultatele testelor trebuie s fie ntotdeauna interpretate innd cont de alte informaii
clinice i legate de istoricul personal i familial.

- Rezultatul testului nu elimin posibilitatea prezenei altor anomalii ale cromozomilor testai i nu verific alte tulburri genetice sau malformaii congenitale.

- La sarcinile gemelare, testarea vizeaz doar trisomiile 21, 18 i 13. n cazul sarcinilor obinute prin FIV sau prin donare de ovule, testarea se poate efectua pentru toate
trisomiile.

nainte i dup efectuarea oricrei testri prenatale non-invazive, consultai un medic genetician cu privire la orice riscuri, diagnostice, tratament i/sau orice alte probleme
medicale care pot fi relevante. Un cadru medical poate furniza mai multe informaii legate de afeciunile pentru care se efectueaz testarea i dac ar trebui s o efectuai sau
nu. Nu trebuie s luai niciodat decizii cu privire la sarcina dumneavoastr fr a consulta n prealabil un medic genetician care cunoate reglementrile de sntate aflate n
vigoare n ara dumneavoastr de rezident. BGI nu furnizeaz n mod direct testarea NIFTY. Testele NIFTY sunt administrate de partenerii locali BGI.

What does NIFTY screen for?


Pentru ce se efectueaz testarea NIFTY?

Sensitivity Rate (singleton pregnancies) Available for Twin Pregnancy


Rat de detecie (sarcin cu un singur ft) Valabil pentru sarcin gemelar
Trisomies (Trisomii)
Trisomia 21 (Sindromul Down) Yes (Da)
99.12%*
Trisomia 18 (Sindromul Edwards)
Trisomia 13 (Sindromul Patau)

+ Additional Testing Options (+ Opiuni de testare suplimentar)

Gender Identification (Identificarea sexului genetic) 98%** No (Nu)

Trisomies (Trisomii)
Trisomia 9 Sensitivity rate not yet validated No (Nu)
Trisomia 16 Rat de detecie nevalidat nc
Trisomia 22
Sex Chromosome Aneuploidies (Aneuploidii ale cromozomilor de sex)
Monosomia X (Sindromul Turner)
XXY ( Sindromul Klinefelter) 95%** No (Nu)
XXX
XYY
Deletion Syndromes (Sindroame de deleie)
5p (Sindromul Cri-du-Chat)
1p36
2q33.1
Sindromul Prader-Willi/Angelman (15q11.2) Sensitivity rate not yet validated No (Nu)
Sindromul Jacobsen (11q23) Rat de detecie nevalidat nc
Sindromul DiGeorge II (10p14-p13)
16p12
Sindromul Van der Woude (1q32.2)

*Non-Invasive Prenatal Testing For Trisomy 21, 18 and 13


**Clinical Experience from 146,958 Pregnancies, Wei Wang et al, Journal of Ultrasound in Obstetrics and Gynecology
***Figure quoted based off internal data of total samples processed worldwide (around 1,000,000), in March 2016.

* Testare prenatal non-invaziv pentru trisomiile 21, 18 i 13.


** Experien clinic de la 146,958 de sarcini, Wel Wang et.al, Journal of Ultrasound in Obstetrics and Gynecology.
*** Procent bazat pe date interne i pe numrul total de probe procesate la nivel mondial (aproximativ 1,000,000), martie 2016.

www.niftytest.com www.bgi-international.com

Page 2 of 7
Ref No.
(ID Filled by requesting institute)
(ID intern pacient completat de instituia care solicit)

TEST REQUEST FORM - FORMULAR DE SOLICITARE A TESTRII


Non-invasive Prenatal Genetic Screening - Examinare genetic prenatal non-invaziv
For the physician/referring clinic: please fill in clearly using black pen and capital letters. Please ensure the test request form accompanies the sample(s). Please retain a copy for
your records.

Pentru medic/clinic: v rugm s completai lizibil folosind un stilou negru i litere de tipar. Asigurai-v c formularul de solicitare a testrii va fi nsoit de
prob(e). V rugm s pstrai o copie pentru evidenele dvs.

BGI Barcode Lab Ref No.

(Filled by Istenhegyi GeneDiagnostic Center) (Filled by Istenhegyi GeneDiagnostic Center)

(Completat de Istenhegyi GeneDiagnostic Center) (Completat de Istenhegyi GeneDiagnostic Center)

REQUESTING INSTITUTE (INSTITUIA CARE SOLICIT)

Institute name (Numele instituiei):_______________________________________________________________________________________________

State/Province/Country (Jude/Sector): ___________________________________________________________________________________________

City/Country (Ora / ar): _____________________________________________________________________________________________________

Zip/Postal code (Cod potal): ___________________________________________________________________________________________________

Street address (Adres): _______________________________________________________________________________________________________

Contact number (Numr tel. contact): ____________________________________________________________________________

E-mail _________________________________________Results will be sent to this e-mail address.(Rezultatele vor fi trimise la aceast adres de e-mail)

Screening coordinator Dr (Medic coordonator screening): _____________________________________________________________________________

Screening coordinator Dr. signature and stamp


Semntura i tampila/parafa medicului coordonator de screening

Patient name (Numele pacientului): ______________________________________________________________________________________________


Contact number (Numr tel.contact): _______________________________________________ E
Gender (Sexul): Woman (Feminin) Man (Masculin) E-mail: ________________________________________________________
Date of birth (Data naterii): ____________________________________________
Results will be sent to this email address.

(Rezultatele vor fi trimise la aceast adres de email)

SAMPLING (filled by requesting institute), RECOLTARE (completat de instituia care solicit)

Date, time (Data, ora):________________________________ Sampler signature (Semntura): ______________________________

Sample type: 10ml blood collected to Streck Cell-Free DNATM BCT tube. Fill tube completely and after collection immediately mix it by gentle inversion 8 to 10 times.Storage
and shipment: room temperature or +4oC. DO NOT FREEZE! Samples must be delivered to the laboratory within 96 hours after blood collection. At least 2 type of personal data
is needed for the identification. The sample and the filled out request form has to be delivered together.

Tipul probei: 10 ml sge colectat n tub Streck Cell-Free DNATM BCT. Se umple tubul complet i imediat dup colectare se amestec prin rsucire de 8-
10 ori. Depozitare i transport: temperatura camerei pn la +40C, A NU SE CONGELA. Proba trebuie sa ajung n laborator n 96 de ore dup
recoltarea sngelui. Pentru identificare sunt necesare 2 tipuri de date cu caracter personal. Proba i formularele solicitate se livreaz mpreun.

MINTABERKEZS (filled by Istenhegyi GeneDiagnostic Center) (Completat de Istenhegyi GeneDiagnostic Center)

A minta a krt vizsglat elvgzsre alkalmas. A krlap megfelelen kitlttt. A mintn s a krlapon szerepl azonostk egyeznek.

Dtum, idpont: ____________________________________ tvev alrsa: ________________________ igen nem

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Ref No.
BGI Barcode (ID Filled by requesting institute)
(Filled by Istenhegyi GeneDiagnostic Center) (ID intern pacient completat de instituia care solicit)
(Completat de Istenhegyi GeneDiagnostic Center)

CURRENT PREGNANCY (SARCIN ACTUAL)

IVF(FIV): Yes(Da) No(Nu) Date of USG scan (Data examinrii ecografice): _____________________________________________

No. Fetus (Nr.fetui): 1 2 Chorionicity (twin): DCDA MCDA MCMA

Prior screening test (Teste de screening anterioare): Yes (Da) No (Nu)

T21 risk: 1/ ____________________________________ T18 risk: 1/ _________________________________T13 risk: 1/ _______________________________________

TEST INFORMATION (INFORMAII TEST)

Date of blood draw (Data recoltrii): ______________________________________

GA at sampling (Vrsta gestaional la recoltare): ___________________________ weeks (sptmni) ______________ days (zile) _______________

Screening coordinator Dr (Medic coordonator screening): _____________________________________________________________________

HISTORY (ISTORIC)

Date of last delivery (Data ultimei nateri): ______________________________________________________________________________________________


Pregnancy affected by chromosomal or genetic disease (Sarcin afectat de anomalii genetice sau cromozomiale): Yes (Da) No (Nu)

Name of condition (Denumii):_____________________________________________________________________________________________________________

Family history of genetic disease


(Cazuri precedente n familie): Yes(Da) No(Nu) Note (Not): ____________________________________________________

PATIENT INFORMATION (INFORMAII PACIENT)

Weight (Greutate): _________________ kg Height (nlime):___________________ cm

TEST SERVICE INFORMATION (INFORMATII OPIUNI TEST) PHYSICIANS STATEMENT (DECLARAIA MEDICULUI)

NIFTY test T21, T18, T13 WelI confirm that the patient has been duly informed about the specific purpose of this genetic
screening test, its risks, and its limitations.
Additional testing options required (singleton pregnancies only) WelI confirm that the patient has been informed that the test will cover the disorder(s) indicated on
this form, and we/I will ensure that the test results will be interpreted to the patient in an appropriate
Opiuni adiionale (Numai pentru sarcin unic) manner, and that the patient will not receive the results without accompanying counseling.

WelI have answered all the patients questions with regard to this test.
Gender Identification (Identificarea sexului genetic)

Sex Chromosome Aneuploidies, Deletion/Duplication Syndromes, Trisomies 9, 16, 22 Confirm/Confirmm c pacientului i s-a adus la cunotin n mod corespunztor scopul
(Aneuploidii cromozomiale de sex, Sindroame deleie / duplicare) specific al acestui test de examinare genetic, riscurile i limitrile sale.

Confirm/Confirmm c pacientului i s-a adus la cunotin c testul va viza tulburarea(rile)


Incidental findings*(Rezultat cu descoperiri accidentale*) indicat(e) n acest formular i v asigur(m) c rezultatele testului vor fi interpretate
pacientului ntr-un mod adecvat, i c pacientul nu va primi rezultatele fr ca acestea s fie
*Patient must also consent to reporting of incidental findings on the Patient Declaration Of nsoite de consiliere.
Consent (see page 6)
Please mark your options! Results will be reported for additional screening options only if Am rspuns la toate ntrebrile pacientului cu privire la acest test.
selected here.
Name (Nume):_______________________________________________
*Este necesar, de asemenea, consimmntul pacientului pentru descoperiri accidentale, n
Declaraia de consimmnt (vezi pag 6)
Signature (Semntura):________________________________________
Rugm marcai opiunile solicitate! Rezultatele examinrilor suplimentare vor fi transmise doar
dac acest lucru este solicitat n aceast seciune.
Date (Data):_________________________________________________

CLINIC INFORMATION / SAMPLING CENTER SAMPLE PREPARATION


Institute name: Istenhegyi GeneDiagnostic Center
(Filled by Istenhegyi GeneDiagnostic Center)
State/Province/Country: HUNGARY
City/Country: BUDAPEST
Zip/Postal code: 1125
Street address: Zalatnai u. 2
E-mail: pecserke@gendiagnosztika.hu Date of centrifugation: ____________________________________

Laboratory coordinator signature: __________________________________ Date of transport to BGI: ________________________________

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Consent Form For Conducting Genetic Analysis
Formularul de consimmnt pentru efectuarea analizei genetice
For the physician:
It is mandatory to ensure that a patient/guardian has signed his or her consent to conduct genetic analyses. BGI needs confirmation in order to be legally able to conduct genetic
analyses. Please ensure that this consent form and declaration of consent on the reverse page are fully completed and accompany the sample(s) with the test request form. Please
retain a copy for your records.

Pentru medic:
Este obligatoriu s v asigurai c pacientul/tutorele i-a semnat consimmntul de a efectua analize genetice. BGI are nevoie de confirmare pentru a putea s
efectueze n mod legal analize genetice. Asigurai-v c acest formular de consimmnt i declaraia de consimmnt de pe pagina urmtoare sunt
completate n ntregime i nsoesc proba/probele alturi de formularul de solicitare a testrii. V rugm s pstrai o copie pentru evidenele dvs.

Your physician has recommended for you (or a person for whom you have custody and are caring for) a genetic analysis to clarify the following conditions:
Medicul v-a recomandat dvs (sau unei persoane pe care o avei n custodie i de care v ngrijii) o analiz genetic pentru a verifica urmtoarele afeciuni:
_________________________________________________________________________________________________________________________________________________
_________________________________________________________________________________________________________________________________________________
_________________________________________________________________________________________________________________________________________________
_________________________________________________________________________________________________________________________________________________

(To be completed by physician: please list test options as selected on the test service information box, page 2)
(A se completa de ctre medic: v rugm enumerai opiunile de testare selectate n seciunea Informaii opiuni test din pagina 2)

We would like to explain the purpose of these analyses, what occurs with a genetic test and the importance the results could have for you and your family.
Am dori s v explicm scopul acestor analize, ce se ntmpl cu un test genetic i importana pe care rezultatele o pot avea pentru dvs i familia dvs.

The purpose of a genetic test is to study the inherited substance (DNA) using a molecular-genetic analysis of characteristics, which may be the cause of the disease that has occurred
or is suspected in you or your family.
Scopul unui test genetic este de a analiza materialul genetic (ADN), efectund o analiz molecular-genetic a caracteristicilor care pot cauza afeciunea de care
suferii sau pentru care exist diagnostic de suspiciune la dvs sau familia dvs.

The study material is a blood sample. Normally there are no health risks when taking a blood sample. Sometimes blood can bruise (hematoma) at the drawing site or very rarely there
could be nerve damage. Another risk that cannot be fully excluded exists in the extremely unlikely possibility of the samples being swapped. Every effort is made to avoid this and other
mistakes.
Materialul de studiu este o prob de snge. n mod normal, nu exist riscuri atunci cnd se recolteaz o prob de snge. Uneori sngele poate provoca
vnti (hematom) pe suprafaa de recoltare sau foarte rar poate produce leziuni nervoase. Un alt risc care nu poate fi exclus n totalitate i care se ntlnete
n cazuri extrem de rare este acela de schimbare a probelor. Se fac numeroase eforturi pentru a evita aceast situaie i alte greeli.

In a genetic analysis
either individual genetic characteristics for a specific suspicion or
many genetic characteristics are investigated at the same time using an overview method (e.g. using exome or genome sequencing).
ntr-o analiz genetic sunt investigate
fie caracteristicile genetice individuale pentru o anumit suspiciune sau
fie multe caracteristici genetice n acelai timp, folosind o metod de ansamblu (ex: folosind secventierea exomului sau a genomului).

Importance of the results


All results will be discussed with you by your healthcare provider. It is important to note, however, that a comprehensive explanation of all possible causes of diseases due to genetic
reasons is not possible. It is also not possible to exclude every disease risk for yourself and your family members (especially your children) utilizing genetic analyses.
In principle, results can occur for all testing techniques that are not directly related to the actual issue but may still be of medical importance for you and your family (so-called incidental
findings). In particular for the overview methods such as genome sequencing, incidental results can occur that relate to higher risks (that you may not be aware of ) for potentially
serious, unavoidable or non-treatable diseases. As part of the consent you can decide whether and under what circumstances you wish to be informed about such incidental findings.
Importana rezultatelor
Medicul genetician va discuta cu dvs toate rezultatele. Este important de precizat totui, c o explicaie detaliat a tuturor cauzelor posibile ale bolilor genetice
nu este posibil. De asemenea, prin efectuarea analizelor genetice, nu putem exclude n mod absolut riscul de mbolnvire a dvs sau a membrilor familiei dvs.
(mai ales a copiilor dvs).
n principiu, prin intermediul tuturor tehnicilor de testare, pot fi aflate rezultate care nu sunt direct legate de problema cercetat, dar care pot fi n continuare de
importan medical pentru dvs. i familia dvs. (aa-numitele descoperiri accidentale). n special la metodele precum secvenierea genomului, rezultatele
accidentale pot avea legtur cu riscuri mai mari (pe care s-ar putea s nu le cunoatei) de boli potenial grave, inevitabile sau netratabile. Ca parte a acordrii
consimmntului, dvs. hotri dac i n ce condiii dorii s fii informat() cu privire la astfel de descoperiri accidentale.

Right of revocation
You can withdraw your consent to the analysis at any time in full or in part without stating reasons. You have the right not to be informed about test results (right not to know), to stop
the testing processes that have been started at any time up to being given the results and to request the destruction of all test material and all results collected up to that time.
This subsection does not affect the financial aspects and does not imply refund of sums of money already paid.
Dreptul de revocare
V putei retrage n ntregime sau parial consimmntul pentru efectuarea analizei n orice moment, fr a preciza motivele. Avei dreptul de a nu fi informat cu
privire la rezultatele testelor (dreptul de a nu ti), de a opri procesele de testare care au fost ncepute n orice moment pn la nmnarea rezultatelor i de a
solicita distrugerea tuturor materialelor de testare i a tuturor rezultatele colectate pn la acel moment. Acest subpunct nu are efect asupra aspectelor
financiare i nu presupune restituiri ale sumelor de bani deja pltite.

Page 5 of 7
Declaration Of Consent (please read this carefully)
Declaraie de consimmnt (v rugm citii cu atenie)

I have read or had explained to me the attached test information sheet for the genetic screening test I am taking. I have received, read and understood a written explanation of genetic analyses. I have
received appropriate explanations with regard to the disease(s) being tested for, the genetic basis, possibilities of prevention/ treatment and the purpose, scope and significance of the planned genetic test(s),
including the risks associated with blood sampling and the limitations of the test. I understand that this test is not intended to provide a final diagnosis and should, in case of a positive result, not be relied
on as sole evidence for a diagnostic conclusion. All my questions have been answered and I have had the necessary consideration time.

Am citit sau mi-a fost explicat fia de informare ataat testului genetic de screening pe care l efectuez. Am primit, citit i neles o explicaie scris a analizelor genetice. Am
primit explicaii adecvate cu privire la boala (bolile) pentru care se efectueaz testul, baza genetic, posibilitile de prevenire/tratamentul i rolul, scopul i semnificaia
testului/testelor genetice planificat(e), inclusiv riscurile asociate cu prelevarea probei de snge i limitrile testului. neleg c scopul acestui test nu este de a oferi un diagnostic
final i c ar trebui, n cazul unui rezultat pozitiv, s nu fie perceput ca prob unic n stabilirea diagnosticului. Am primit rspuns la toate ntrebrile mele i beneficiat de timpul
de gndire necesar.
I agree to provide accurate information about all previous tests such as ultrasound/other screening/diagnostic tests performed in this pregnancy. I understand that my physician may contact me for such
information.

Sunt de acord s furnizez informaii exacte cu privire la toate testele anterioare, cum ar fi ecografia/alte examinri/teste de diagnostic efectuate n timpul acestei sarcini.
neleg c este posibil ca medicul meu s mi cear astfel de informaii.
I consent to have my test results sent to the undersigned healthcare provider, or their place of business, to an address provided by them. Due to the complexity of DNA-based testing and the
important implications of the test results, I understand my results will be reported through my healthcare provider and that I should contact my healthcare provider to obtain the results of the test.

Sunt de acord ca rezultatele testului meu s fie trimise furnizorului de servicii medicale la o adres furnizat de acesta. Datorit complexitii testelor de ADN i a
implicaiilor importante pe care rezultatele testului le pot avea, neleg faptul c rezultatele pot fi comunicate prin intermediul medicului genetician.
Test results can also be used for research and to improve the diagnosis and treatment of genetic diseases. I consent to the storage and use of my anonymous test results in a statistical database for
scientific purposes and to facilitate and improve the diagnosis of genetic changes and diseases in other patients. I understand that I will remain anonymous and unidentifiable during data analysis and
that any personal information will be rendered non-personal beforehand in case BGI intends to use it for any reports or publications. I consent that the results stored in the database are being
provided to physicians, scientists and researchers. (If both boxes are left blank, consent shall be assumed)

Rezultatele testului pot fi de asemenea folosite pentru cercetare i pentru a mbunti diagnosticarea i tratamentul bolilor genetice. Sunt de acord cu stocarea i utilizarea
rezultatelor testelor mele sub protecia anonimatului ntr-o baz de date statistice folosite n scopuri tiinifice i pentru a facilita i a mbunti diagnosticarea modificrilor i a
bolilor genetice la ali pacieni. neleg c voi rmne sub protecia anonimatului, neputnd fi identificat() n timpul analizrii datelor i c orice informaie cu caracter personal
va fi transformat n prealabil n informaie cu caracter non-personal, n cazul n care BGI intenioneaz s o foloseasc pentru orice tip de raport sau publicaii. Sunt de acord ca
rezultatele stocate n baza de date s fie furnizate medicilor, oamenilor de tiin i cercettorilor.

YES/DA NO/NU (Dac ambele casue vor fi lsate nebifate, consimmntul va fi considerat acordat)
Unused test material is important for researching biological mechanisms that may result in better understanding of diseases. Unused test material is also an
important comparison material for quality assurance on genetic tests in the lab. I consent to the anonymous storage and use of my remaining test material for the purpose of quality assurance and the
latest tracking of results beyond the testing time period. I consent to the anonymous storage and use of my test material to improve the diagnostics and treatment of genetic diseases.
(If both boxes are left blank, consent shall be assumed)

Materialul de testare neutilizat este important n cercetarea mecanismelor biologice care ar putea duce la o mai bun nelegere a bolilor.
Materialul de testare neutilizat este, de asemenea, un material de comparaie important pentru asigurarea calitii testelor genetice in laborator.
Sunt de acord cu stocarea i folosirea anonim a materialului meu de testare neutilizat, n scopul asigurrii calitii i celor mai noi investigaii ale rezultatelor dup perioada de
testare. Sunt de acord cu stocarea i utilizarea sub protecia anonimatului a materialului meu de testare pentru mbuntirea diagnosticrii i tratrii bolilor genetice.

YES/DA NO/NU (Dac ambele casue vor fi lsate nebifate, consinmntul va fi considerat acordat)
I understand that my sample will be sent abroad for analysis at a BGI owned and operated laboratory located in Hong Kong, China.

neleg c proba mea va fi trimis n strintate pentru a fi analizat de ctre laboratorul deinut i gestionat de BGI, localizat n Hong Kong, China.
There is a possibility for the recognition of incidental findings that are not necessarily related to the reason for ordering the test. These findings can provide information that was not anticipated and
that are unrelated to the individuals reported clinical features, but can be of medical value for patient care.
I choose to receive also information regarding genetic results that are not necessarily related to the specific reason for which my healthcare provider
ordered the test. (If both boxes are left blank, consent shall be assumed)

Exist posibilitatea apariiei unor descoperiri accidentale, care nu au neaprat legtur cu motivul pentru care a fost solicitat testul. Aceste descoperiri pot oferi informaii care
nu au fost anticipate i care nu au legtur cu caracteristicile clinice individuale raportate, dar care pot fi valoroase din punct de vedere medical pentru ngrijirea pacientului.
Vreau s primesc, de asemenea, informaii cu privire la rezultatele genetice care nu sunt neaprat legate de motivul specific pentru care medicul genetician a
solicitat testul.
YES/DA NO/NU (Dac ambele csue vor fi lsate nebifate, consimmntul va fi considerat acordat)

With my signature I give my consent for genetic analysis and the necessary blood sampling. It has been pointed out to me that I can withdraw my consent in full or in part at any time without stating
reasons, without any resulting detriment and that I have the right to not learn about the test results (right not to know). This subsection does not affect the financial aspects and does not imply refund of
sums of money already paid.
Prin intermediul semnturii mi exprim consimmntul pentru realizarea analizei genetice i prelevarea probei de snge necesar. Mi s-a adus la cunotin c mi pot retrage
acordul n totalitate sau parial, n orice moment, fr precizarea motivelor, fr angajarea vreunui prejudiciu i c am dreptul de a nu afla rezultatele testului (dreptul de a nu ti).
Acest subpunct nu are efect asupra aspectelor financiare i nu presupune restituiri ale sumelor de bani deja pltite.

I am aware that I can stop the test once started at any time and can request the destruction of the non-anonymous test material including all components obtained and all result conclusions collected up to
that time. I am aware that anonymized reports and sample material cannot be destroyed upon my request after the anonymization. In so far I agree that with the anonymization any title to reports and
material is vested in BGI. This subsection does not affect the financial aspects and does not imply refund of sums of money already paid.
Sunt contient c pot opri procedura de testare n orice moment dup ce a fost demarat i c pot solicita distrugerea materialului testat care nu este anonim, inclusiv a tuturor
coninuturilor obinute i a tuturor concluziilor rezultatului colectate pn n acel moment. Am luat la cunotin faptul c rapoartele i probele anonimizate nu pot fi distruse la
cerere, dup ce a avut loc procesul de anonimizare. Acestea fiind spuse, sunt de acord c odat cu anonimizarea, orice drept asupra rapoartelor i materialului este cedat
organizaiei BGI. Acest subpunct nu are efect asupra aspectelor financiare i nu presupune restituiri ale sumelor de bani deja pltite.

Signature of Patient Signature of Healthcare Provider


Semntur Pacient Semntur Medic Genetician

________________________________
________________________________________ Day/Ziua Month/ Luna Year/Anul
Day/Ziua Month/ Luna Year/Anul

Page 6 of 7
Optional Insurance Scheme
Sistem de asigurare facultativ

BGI offers an insurance scheme with provision of the NIFTY test. The insurance cover is underwritten by PICC Health Insurance Company Ltd. Shenzhen Branch. To ensure you
understand the insurance cover provided, please read the below details carefully. The insurance duties are as follows:
BGI ofer mpreun cu testul NIFY un sistem de asigurare. Asigurarea este acoperit de ctre PICC Health Insurance Company Ltd. Shenzhen Branch. Pentru
a fi siguri c nelegei sistemul de asigurare furnizat, v rugm s citii cu atenie detaliile de mai jos. Obiectivele asigurrii sunt urmtoarele:

1. Positive If the test result is "high risk" or "poistive" for "Trisomy21" "Trisomy18" or "Trisomy13" Sex Chromosome Abnormalities (X, XXY, XXX, XYY)
Deletions/Duplications syndromes (including 5p (Cri-du-Chat syndrome), 1p36, 2q33.1, Prader-Willi/Angelman Syndrome (15q11.2), Jacobsen Syndrome (11q23),
DiGeorge Syndrome II (10p14-p13), 16p12, Van der Woude Syndrome (1q32.2), you are eligible for nancial reimbursement towards the cost of invasive, conrmatory
prenatal diagnostic testing including but not limited to amniocentesis, chorionic villus sampling (CVS), umbilical cord puncture sampling, karotyping analysis,
chromosome uorescence in situ hybridization and FISH. The reimbursement will be up to maximum RMB 2500 (375 USD) per person in the case of a singleton
pregnancy. In the case of a twin pregnancy the maximum reimbursement amount is set as RMB 4000 (600 USD). Please Note that: BGI will not provide any
compensation for any baby born with any of the conditions outlined in this section to any clients who did not undertake any follow up conrmatory invasive prenatal
diagnosis after receiving a high risk result for any of the conditions listed within this section.
Pozitiv" n cazul n care rezultatul testului este "risc ridicat" sau "pozitiv" pentru "Trisomie 21", "Trisomie18", "Trisomie13" sau "Anomalii numerice
ale cromozomilor sexuali (X, XXY, XXX, XYY)" sindroame de deleie/duplicatii (inclusiv 5p (sindromul Cri-du-Chat), 1p36, 2q33.1, Prader-Willi /
sindromul Angelman (15q11.2), sindromul Jacobsen (11q23), sindromul DiGeorge II (10p14-p13), 16p12, sindromul Van der Woude ( 1q32.2),
suntei eligibil pentru rambursarea ulterioarelor costuri ale testelor invazive de diagnostic, efectuate pentru confirmare, inclusiv, dar fr a se limita
la amniocentez, biopsie de viloziti coriale, prob din sngele ombilical, cariotip, hibridizare fluorescent n situ (FISH). Rambursarea va fi de
pn la maxim RMB 2500 (375 USD) per persoan, n cazul unei sarcini cu un singur ft. n cazul unei sarcini gemelare, suma maxim de
rambursat este stabilit la RMB 4000 (600 USD). V rugm s reinei c: BGI nu va oferi nici o compensaie pentru orice copil nscut cu oricare
dintre condiiile prezentate n aceast seciune, clienilor care nu au efectuat teste invazive ulterioare de diagnostic prenatal dup ce au primit un
rezultat de risc ridicat pentru oricare dintre condiiile enumerate n aceast seciune.

2. False Negative If the test result is "low risk" or "negative", but that later your baby is born and diagnosed with either Trisomy 21, Trisomy 18, Trisomy 13 or Sex
Chromosome Abnormalities (X, XXY, XXX, XYY) by a qualied healthcare professional within one year of babys birth date, you are eligible for compensation up to a
maximum amount of RMB 400,000 (60,000 USD) for either singleton or multiple pregnancy.
Fals negativ n cazul n care rezultatul testului este "risc sczut" sau "negativ" dar mai trziu copilul se nate i este diagnosticat fie cu "Trisomie
21", "Trisomie18", "Trisomie13" sau "Anomalii numerice ale cromozomilor sexuali (X, XXY, XXX, XYY)", de ctre personal medical calificat n
termen de un an de la data naterii copilului, suntei eligibil pentru o compensaie de pan la o valoare maxim de 400.000 RMB (60.000 USD), fie
c este sarcin cu un singur ft, fie c este multipl.

3. False Negative in the Event of Diagnosis and Termination Before Live Birth In the event that your NIFTY test result is reported as low riskor "negative" but that later
your baby is diagnosed before birth with either Trisomy 21, Trisomy 18, Trisomy 13 or Sex Chromosome Abnormalities (XO, XXY, XXX, XYY) by a qualied healthcare
professional, and you choose to terminate the pregnancy, you are eligible for compensation. The compensation amount is set at a maximum amount of RMB 20,000
(3,000 USD) for either singleton or multiple pregnancy.
Rezultat fals negativ n caz de diagnosticare i terminare a sarcinii nainte de nastere. n cazul n care rezultatul testului NIFTY este raportat ca
fiind "cu risc sczut" sau "negativ", dar mai trziu copilul este diagnosticat nainte de natere fie cu "Trisomie 21", "Trisomie18", "Trisomie13" sau
"Anomalii numerice cromozomilor sexuali (X, XXY, XXX, XYY)" de ctre personal medical calificat i alegei s punei capt sarcinii, suntei eligibil
pentru compensaie. Valoarea compensaiei este stabilit la o valoare maxim de 20.000 RMB (3.000 USD), fie c este sarcin cu un singur ft, fie
c este multipl.

All above insurance liability is subject to the terms outlined within this section, and shall be terminated after compensation.
Orice responsabilitate a asigurrii de mai sus se supune termenilor prezentai n cadrul acestei seciuni, i se ncheie dup compensare.

I wish to purchase insurance cover as detailed in this document. I have received and read the insurance consent scheme of NIFTY. I know and agree that BGI limited acts as policy-
holder to handle insurance procedures on behalf of the Shenzhen branch of PICC and purchases the insurance for me, based on my accurate personal information.

Doresc s beneficiez de acoperirea asigurrii aa cum este specificat n acest document. Am primit i citit consimmntul sistemului de asigurare al testului
NIFTY. tiu i sunt de acord c BGI, ca titular al poliei, s se ocupe de procedurile de asigurare n numele sucursalei Shenzhen a PICC i s procure
asigurarea pentru mine, pe baza informaiilor mele personale corecte.

Yes / Da No / Nu

Name (Nume): _______________________________________________________________________________________________________________

Place of birth, time (Locul si data naterii): ___________________________________________________________________________________________

ID card number / passport number (Seria i numrul CI / Seria Paaport): ____________________________________________________________________

Signature of Patient / Semntura Pacientului

_______________________________________________
Day/ Ziua Month/ Luna Year/ Anul

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