amniocenteza

Eliza5 spune:

Eu una sunt foarte dezamagita de Genetic Lab. Am o prietena care a facut amnio, iar rezultatul de la Genetic Lab a fost ca pruncul "s-ar putea" sa aiba Down. Au gasit ei niste resturi de cromozom care "ar putea fi" un cromozom 21... Ce fel de raspuns e asta??? Prietena mea se zbate de atunci sa afle daca bebeul e OK sau nu, pentru ca raspunsul asta i-a dat viata peste cap. Pana la urma a aflat (prin mail, de la geneticieni din USA) ca ar trebui sa faca acest FISH ca sa elucideze problema sindromului... Acum trebuie sa faca inca o amniocenteza

Eliza si Alex (15 nov. 2004)

Flavia_Hurducas spune:

Eliza, sa stii ca si eu ceva dubii in ceea ce priveste profesionalismul celor de la Genteic Lab. A fost chiar un subiect pe Forum, unde concluzia era ca cei de aici s-ar putea sa isi faca rost de clienti dand tfel de fel de tinte false pentru a face alte teste, mai scumpe etc.

Flavia 19+

locca spune:

Felicity, "alte maladii" ar putea fi rubeola. Asta a fost cazul meu. Imi iesise o analiza cum ca as avea rubeola activa si prin amnio se poate detecta daca fatul a fost sau nu in contact.
Eu am o amintire amara cu astia de la genetic lab, dupa ce m-au purtat 3 saptamani cu textul "primim saptamana viitoare kiturile pt. rubeola" am renuntat. Intre timp tot consultand diversi doctori am ajuns la concluzia ca prima analiza pt rubeola fusese gresita, dar oricum, comportamentul celor de la genetic lab lasa de dorit. Parerea mea. Imi tot ziceau sa fac amnio ca o sa primeasca kitul si ca oricum trebuie s-o fac pt analiza genetica, cand eu le spusesem clar ca nu vreau decat pt. rubeola, ca numai asta ma intereseaza, ca sa imi dea un raspuns clar daca se poate sau nu la ei.

bv33kmi spune:

Laura,
eu am fost pusa in situatia de a face amniocenteza prin saptamina 22 de sarcina (rezultatul de la triplu test mi-a fost dat cu o "mica intirziere de 4 saptamini" si indica un risc crescut -putin peste val max. admisa). Atunci am ales sa fac un ecograf Level 2 cred la Giulesti, inainte sa fac amnio. Rezultatul de la Triplu test indica un risc de trisomie 21(SD) de 1/375. Riscul de avort la amniocenteza este de 1/250. Dr. Albu de la Genetic Lab spunea ca e mic riscul de avort e mai mic decit riscul din test. Dupa mine 1/250 e mai mare de 1/375. Dupa el, nu. Faceti si voi impartirea. Dar nu asta a fost hotaritor. Ecograful a fost hotaritor. Impresia mea este ca cei de la Genetic Lab minaresc testele astea. E pur si simplu o afacere. Mie mi-a cerut acest Dr. Albu 10.000.000 lei pentru amnio (poate ca nu eram din Bucuresti si era mai scump pentru provinciali).
Ideea e ca sarcina noastra a mers foarte bine, am nascut normal, la 32 de ani si avem un copil minunat vesel si sanatos.
Noi ne-am asumat orice risc in momentul in care am hotarit sa nu facem amniocenteza si apoi am uitat pur si simplu ca exista acest test (ecografia a fost relevanta) si am mers cu "Doamne ajuta!" mai departe.
Faci cum crezi pina la urma. Eu am intrebat-o pe doctorita mea, dupa ce s-a terminat "agitatia" ce ar fi facut in locul meu. Si mi-a spus ca la fel ca mine, dar ca medic nu ma putea sfatui in felul asta.
Sa va ajute Dumnezeu sa luati hotarirea cea buna si sa fiti sanatosi.

AC spune:

quote:

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Originally posted by Felicity

quote:

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Originally posted by AC

quote:

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Originally posted by Felicity

mamagiuliei,
FISH se face tot din acelasi lichid amniotic............
............ dureaza doar 24 de ore pana ai rezultatul.
am fost foarte fericita ca exista asa ceva, am scapat de agonia asteptarii.

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Scapi daca astepti SD sau alta trisomie, nu si alte maladii.

Andreea si galusca si ghemotocul asteptat pe 4 iulie 2005

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AC, ALTE MALADII CARE? ai facut cumva amnio?
ai discutat cumva cu un medic despre asa ceva?
in plus iti spune despre spina bifida, care e detectata si la ecografie.
AMNIO NU TESTEAZA ORICE MALADIE, cum le denumesti tu.
Nu am auzit niciodata de un FISH OK si un amnio cu probleme.

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Scuze n-am vazut mesajul... Da, ,Felicity am scris mai sus ca am facut amnio. L-am facut in urma unui consult genetic. Off-topic as vrea sa-ti spun ca pe Internet majusculele sunt echivalentul tipatului si subliniatului , deci please cu mila .

Nimic nu detecteaza totul ...si nici nu am sustinut asa ceva. Daca medicul ti-o recomanda totusi.. o face pentru o maladie detectabila si e bine sa se stie ca FISH-ul acopera un spectru mult mai restrans de maladii detectabile, decat amniocenteza.

FISH-ul este un asa cum ai spus si tu in general confirmat de rezultatul amnio. Nimeni nu face doua teste daca ar fi suficient unul.

Mie personal rezultatul preliminar imi dadea un raspuns partial.
Maladiile pot fi infectioase si depistate la mama: rubeola, toxoplasmoza, cytomegalovirus.

Sau neinfectiose. Uite cateva exemple care n-au legatura cu FISH-ul.
Intr-o sarcina cu diabet poate masura nivelele de glucoza si insulina in lichidul amniotic. In cazul unui travaliu timpuriu sau membrane rupte inainte de termen determina prezenta bacteriilor in lichidul amniotic, determina nivelul de maturitate al plamanilor copilului.
De asemenea mami cu Rh negativ, tati pozitiv se poate testa daca mami are ceea ce in engleza se cheama Rh sensitization (sorry pt termenul in .ro)

In general NU stiu daca FISH detecteaza maladii genetice necromozomiale sau este doar considerat putin de incredere: thalasemia, haemophilia... defecte de tub neural(spina bifida sau ancefalie), fibroza cistica, Tay-Sachs( da compusi chimici specifici in lichid).
Am copiat ce face testul FISH. Textul in engleza nu are copyright, era in cache la Google.. si nu-s medic/biochimist sa-l traduc corect. Totusi imi pare ca nu trateaza decat maladii cromozomiale.


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Genetic Drift Vol. 13: Spring, 1996
Molecular Cytogenetics (FISH)
From the Editor and Authors:

This issue of Genetic Drift is the first in a series of two updates on the clinical application of genetic diagnostic technologies. The present issue opens with the basics of FISH (fluorescence in situ hybridization), from concept to application, and concludes with a discussion of regulatory issues and practical guidelines for use. The second issue in the series will deal with DNA diagnostic testing for single gene disorders. Our intent is to provide our primary care colleagues with practical working knowledge of these new tools - and we welcome your feedback. The Teratogen Hot Topic is Vitamin A intake during pregnancy. The issue concludes with information about the MSRGSN which produces this newsletter. Please contact the Editor if you would like the list of references for this issue.

This issue was spearheaded by Lisa J. Brothman (UT), with contributions from Loris McGavran, Ph.D. (CO), Kathy Richkind, Ph.D. (NM), Mary C. Lowery, Ph.D. (CO), Wendy Flejter, Ph.D. (UT), Lynda Fox, J.D. (CO), John Stone, Ph.D. (AZ), Art Brothman, Ph.D. (UT), and Lynn Martinez, (UT).

Carol Clericuzio, M.D. (NM),
Editor
Introduction to Molecular Genetics
Novel laboratory techniques are often the driving force behind new ideas in science. Certainly the use of cytogenetic studies for clinical testing literally exploded in the 1960s and 1970s because of three new techniques: 1) Peter Nowell discovered that the plant lectin phytohaemagglutinin could stimulate lymphocytes to grow in culture; 2) TC Hsu used hypotonic shock to prepare chromosomes so that they could be counted accurately; 3) T. Caspersson and Marina Seabright developed chromosome banding techniques that allow accurate pairing and identification of structural abnormalities. In the 1980s the techniques of molecular biology were applied to cytogenetic preparations.

We call this "hybrid" technology molecular cytogenetics, and it is transforming the way we study chromosomal changes in humans. It has improved the detection of, indeed in some cases defined, microdeletion syndromes. De novo derivative chromosomes in patients with chromosome imbalances can now be accurately characterized: the clinician now knows the identity of the partial monosomy and trisomy in these patients, and the molecular geneticist has accurate information from which to find genes relevant to the phenotype. The chromosomal origin of supernumerary markers can be identified and we now have a real potential of predicting phenotype for marker carriers, benign or adverse.

With molecular cytogenetic techniques, we can now detect some chromosomal abnormalities in nondividing cells with interphase nuclei. Standard cytogenetics requires actively dividing cells with metaphase nuclei. Some constitutional chromosomal abnormalities, and phenomena such as mosaicism and chimerism can be addressed without growing cells in culture or in cell types that do not adapt well to tissue culture.

Potentially, chromosomal aneuploidy studies (i.e. studies looking for abnormalities in chromosome number) can be done more quickly. Preserved, rather than fresh, tissue can be investigated for retrospective studies. We can ask questions of chromosome organization, its relationship to gene expression and tissue specificity in ways that were not possible a few years ago.

Does it replace standard cytogenetics? No, molecular cytogenetic techniques focus on specific chromosomes, chromosome regions, and unique DNA sequences or genes. Standard cytogenetic studies, including high resolution analysis, allow us to survey the whole genome for abnormalities of chromosome number or structure. But as complementary studies or for certain targeted abnormalities, molecular cytogenetic techniques expand our capabilities for making more accurate and refined cytogenetic diagnoses, both for constitutional abnormalities and acquired chromosomal changes in cancer cells.
Basic techniques
The most commonly used molecular cytogenetic technique is fluorescence in situ hybridization, or FISH. FISH is usually applied to standard cytogenetic preparations on microscope slides, but it can be used on slides of formalin-fixed tissue, blood or bone marrow smears, and directly fixed cells or other nuclear isolates. The basic principle of the method is that single-stranded DNA will bind or anneal to its complementary DNA sequence. Thus, a DNA probe for a specific chromosomal region will recognize and hybridize to its complementary sequence on a metaphase chromosome or within an interphase nucleus. Both have to be in single-strand conformation, therefore the DNA probe and the target DNA must be denatured, usually by heating them in a formamide-containing solution.

The probe is hybridized to the target DNA under conditions that allow the DNA to reanneal in double-strand form. Added to the hybridization mixture is an excess of repetitive sequence DNA to block non-specific binding of the probe to the target. After hybridization is complete (often after 2-18 hr at 37 C), the slides are washed in formamide-saline citrate solutions to remove excess or non-specifically bound probe. To detect the location of the probe on the target DNA, the probe DNA can be directly labeled with a fluorescent tag. It can also be chemically modified by the addition of hapten molecules (biotin or digoxigenin) that can then be indirectly fluorescently labeled with immunocytochemical techniques. The target DNA is counterstained with another fluorochrome of a complementary color.

The probe DNA can be observed on its target by using a fluorescent microscope with filters specific for the fluorochrome label and the counterstain. Special filters have been developed to allow simultaneous visualization of several fluorochromes. Digital cameras designed to detect low light level emissions and computer imaging are used to increase the sensitivity of probe detection. Because fluorescent dyes are subject to photobleaching (fading), the preparations are not permanent and must be stored away from light. Use of an antifade solution (phenylenediamine) has improved the capacity to observe and document fluorescently labeled samples.

Three different types of probes are typically used in clinical FISH studies:

1. Probes that bind to specific chromosome structures typically recognize repetitive DNA sequences, such as within centromeres (alpha satellite DNA ) or telomeric sequences. Within the repeat sequence are nucleotide patterns that are unique for specific chromosomes. There are now available centromeric probes that can identify most of the individual chromosome homologues. Similarly, there are probes that specifically recognize the telomeres (chromosome ends) of the long and short arms of many of the homologues, and more are rapidly being developed. Most alpha satellite centromeric probes give a large, bright signal and are useful for both chromosome identification in metaphase preparations and chromosome enumeration in interphase nuclei. Chromosome-specific telomere probes can be used for the above, for detection of cryptic translocations, and to define interstitial and terminal deletions.

2. Unique sequence probes hybridize to single copy DNA sequences in a specific chromosomal region or gene. In clinical cytogenetics these probes are usually referred to as cosmids, named for their cloning vector. These are the probes used to identify the chromosomal critical region or gene associated with microdeletion syndromes. On metaphase chromosomes, they hybridize to each chromatid, usually giving two small, discrete signals per chromosome.

3. Whole chromosome paints are cocktails of unique sequence probes that recognize the unique sequences spanning the length of a particular chromosome. At metaphase, both chromosome homologues are "painted" or fluoresce brightly. Among other applications, paint probes are used to define the chromosomal origin of derivative segments on translocation chromosomes or supernumerary markers.

A new nomenclature to describe FISH findings has been introduced by the standing committee for the International System on Cytogenetic Nomenclature (ISCN 1995). It is designed to be compatible with standard cytogenetic nomenclature and to provide precise information about FISH results. Many laboratories will be incorporating the new nomenclature into their reports, together with text to explain their findings.

The Genetic Drift Newsletter is not copyrighted. Readers are free to duplicate all or parts of its contents. The Genetic Drift Newsletter is published semiannually by the Mountain States Genetics Network for associates & those interested in Human Genetics. In accordance with accepted publication standards, we request acknowledgement in print of any article reproduced in another publication. The views expressed in the newsletter do not necessarily reflect local, state, or federal policy. For additional information, contact Carol Clericuzio, M.D., Editor, Department of Pediatrics, The University of New Mexico, Albuquerque, NM, 87131

Andreea si galusca si ghemotocul asteptat pe 4 iulie 2005

calibra spune:

pe voi cat v-a costat amniocenteza? eu am sunat la genetic lab si m-am programat mi-au spus ca ma costa 13.3 mil . mi se pare cam mult . acum un an si jumatate cand am mai facut-o era 7 mil

Flavia_Hurducas spune:

Calibra, eu am facut-o la genetic Lab acum o luna (in 7 mai) si m-a costat 6 mil. Si asta este pretul si pe net.

Flavia 23+

calibra spune:

Amniocenteza inseamna prelevare de lichid amniotic( se face la
maternitate ) si costa 6 mil. ( probabil) iar analiza lichidului
amniotic( Cariotip fetal) se efectueaza la Genetic Lab si costa
7.500.000. Pentru programare amniocenteza sunati va rog la
tel:0722971400.
Cu bine,


asta mi-au raspuns cei de la genetic lab cand am intrebat de diferenta de pret dintre ce e afisat pe site-ul lor si ce mi s-a spus cand am sunat la acel nr.
probabil in alte locuri prelevarea de lichid amniotic costa mai putin.