{"id":8752,"date":"2024-06-08T11:04:43","date_gmt":"2024-06-08T09:04:43","guid":{"rendered":"https:\/\/www.genetika-plzen.cz\/?page_id=8752"},"modified":"2024-06-08T11:17:08","modified_gmt":"2024-06-08T09:17:08","slug":"vysetreni-v-tehotenstvi","status":"publish","type":"page","link":"https:\/\/genetika-plzen.nullable.group\/en\/vysetreni-v-tehotenstvi\/","title":{"rendered":"Examinations during pregnancy"},"content":{"rendered":"
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\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\"\"\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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List of performed methods<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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\n\t\t\t\t\t\t\t\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/i><\/span>\n\t\t\t\t\t\t\t\t<\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\tScreening I.trimestru<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t
Screeningov\u00e9 vy\u0161et\u0159en\u00ed v\u00a0I.\u00a0trimestru se\u00a0prov\u00e1d\u00ed ve\u00a0st\u00e1\u0159\u00ed plodu 11\u00a0t\u00fddn\u016f + 3\u00a0dny a\u017e 13\u00a0t\u00fddn\u016f + 6\u00a0dn\u00ed kdy je velikost plodu od\u00a0temene ke kostr\u010di (CRL) 45-84\u00a0mm . V\u00a0t\u00e9to f\u00e1zi t\u011bhotenstv\u00ed m\u016f\u017eeme diagnostikovat ji\u017e n\u011bkter\u00e9 vrozen\u00e9 org\u00e1nov\u00e9 vady a\u00a0hodnotit tzv. ultrazvukov\u00e9 markery pro\u00a0onemocn\u011bn\u00ed plodu. D\u016fle\u017eit\u00fdm znakem je pros\u00e1knut\u00ed podko\u017e\u00ed v\u00a0\u0161\u00edjov\u00e9 oblasti (\u0161\u00edjov\u00e9 projasn\u011bn\u00ed \u2013 NT). V\u00fdrazn\u00e9 zv\u011bt\u0161en\u00ed NT m\u016f\u017ee znamenat riziko vrozen\u00e9 vady. Je d\u016fle\u017eit\u00e9 hodnotit i\u00a0dal\u0161\u00ed zn\u00e1mky jako p\u0159\u00edtomnost nosn\u00ed kosti (NB), trikuspid\u00e1ln\u00ed regurgitace, ductus venosus. Sou\u010d\u00e1st\u00ed toho vy\u0161et\u0159en\u00ed je i\u00a0n\u00e1b\u011br krve matky, kde se\u00a0stanovuje hladina placent\u00e1rn\u00edch hormon\u016f a\u00a0b\u00edlkovin, PAPP \u2013A\u00a0a\u00a0free \u03b2hCG.\u00a0Na\u00a0z\u00e1klad\u011b t\u011bchto vy\u0161et\u0159en\u00ed se\u00a0stanov\u00ed kombinovan\u00e9 riziko chromozom\u00e1ln\u00ed vady pro\u00a0plod, p\u0159edev\u0161\u00edm Downova, Edwardsova a\u00a0Patauova syndromu.<\/div><\/div>
YOU CAN HAVE THE SCREENING RESULT AT OUR DEPARTMENT ON THE SAME DAY.<\/div><\/div>
Combined first trimester screening including preeclampsia \u2013 genetic risk assessment \u2013 singleton pregnancy<\/td>2\u00a0000\u00a0K\u010d<\/td><\/tr>
Combined first trimester screening including preeclampsia \u2013 genetic risk assessment \u2013 twins<\/td>3\u00a0000\u00a0K\u010d<\/td><\/tr><\/tbody><\/table><\/div><\/div>
\"\"<\/div><\/div><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t
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\n\t\t\t\t\t\t\t\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/i><\/span>\n\t\t\t\t\t\t\t\t<\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\tUltrazvukov\u00e9 vy\u0161et\u0159en\u00ed ve II.trimestru<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t

Jde o ultrazvukov\u00e9 vy\u0161et\u0159en\u00ed mezi 20. a 22. t\u00fddnem t\u011bhotenstv\u00ed. Jde o nejd\u016fle\u017eit\u011bj\u0161\u00ed ultrazvukov\u00e9 vy\u0161et\u0159en\u00ed k vylou\u010den\u00ed vrozen\u00fdch org\u00e1nov\u00fdch vad plodu. Krom\u011b zhodnocen\u00ed plodu jako celku a jednotliv\u00fdch org\u00e1n\u016f stanovujeme i hmotnost plodu a t\u00edm jeho spr\u00e1vn\u00fd r\u016fst. V neposledn\u00ed \u0159ad\u011b hodnot\u00edme ulo\u017een\u00ed a vzhled placenty a mno\u017estv\u00ed plodov\u00e9 vody.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t

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\n\t\t\t\t\t\t\t\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/i><\/span>\n\t\t\t\t\t\t\t\t<\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\tUltrazvukov\u00e9 vy\u0161et\u0159en\u00ed ve III. Trimestru<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t

Examination in week 30-32 of a woman's pregnancy. In this period of time the key examination includes the size and position of the foetus. The organs are again evaluated, including the status and position of the placenta and the amount of amniotic fluid. In some cases we measure blood flow rate in the umbilical cord and other foetal vessels.<\/p><\/div><\/div>

Leaflet<\/span> <\/span> <\/a><\/div>
\u00a0<\/div><\/div><\/div>
Price list<\/span> <\/span> <\/a><\/div><\/div><\/div><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t
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\n\t\t\t\t\t\t\t\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/i><\/span>\n\t\t\t\t\t\t\t\t<\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\tKonzili\u00e1rn\u00ed ultrazvukov\u00e9 vy\u0161et\u0159en\u00ed<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t

V\u00a0p\u0159\u00edpad\u011b nejasn\u00e9ho ultrazvukov\u00e9ho n\u00e1lezu, \u0161patn\u00e9 p\u0159ehlednosti \u010di\u00a0podez\u0159en\u00ed na\u00a0vrozen\u00e9 vady prov\u00e1d\u00edme nadstavbov\u00e9 ultrazvukov\u00e9 vy\u0161et\u0159en\u00ed k\u00a0potvrzen\u00ed \u010di\u00a0vylou\u010den\u00ed n\u00e1lezu. V\u00a0p\u0159\u00edpad\u011b pot\u0159eby je t\u011bhotn\u00e1 n\u00e1sledn\u011b konzultov\u00e1na s\u00a0klinick\u00fdm genetikem, kter\u00fd stanov\u00ed genetick\u00e1 rizika pro\u00a0plod.\u00a0<\/p>

The examination is performed by a physician experienced in ultrasound examinations.<\/p><\/div><\/div><\/div><\/div>

\"\"<\/div><\/div><\/div><\/div><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t
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\n\t\t\t\t\t\t\t\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/i><\/span>\n\t\t\t\t\t\t\t\t<\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\tInvasive procedures<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t
K\u00a0nej\u010dast\u011bj\u0161\u00edm invazivn\u00edm v\u00fdkon\u016fm v\u00a0dob\u011b t\u011bhotenstv\u00ed pat\u0159\u00ed: <\/div><\/div><\/div><\/div>

\u00a0<\/h2>

CVS\u00a0–\u00a0odb\u011br choriov\u00fdch klk\u016f (placenty)<\/h2><\/section><\/div><\/main><\/div><\/div><\/div><\/div><\/div><\/div><\/main>

Prov\u00e1d\u00ed se mezi 10.-14. t\u00fddnem<\/strong> t\u011bhotenstv\u00ed. V\u00fdkon se v tomto p\u0159\u00edpad\u011b prov\u00e1d\u00ed v\u017edy pod ultrazvukovou kontrolou a v\u017edy zcela mimo plod. V\u00fdsledek nej\u010dast\u011bj\u0161\u00edch syndrom\u016f metodou QFPCR je zn\u00e1m do 24 hodin<\/strong> po odb\u011bru. V\u00fdsledek kompletn\u00edho chromozom\u00e1ln\u00edho vy\u0161et\u0159en\u00ed (karyotyp) je do 3 t\u00fddn\u016f. Riziko komplikac\u00ed spojen\u00fdch s v\u00fdkonem je 0,5 a\u017e 1%.<\/p><\/div><\/div>

\"\"<\/div><\/div><\/div><\/div>
Consent of the subject<\/span> <\/span> <\/a><\/div><\/div><\/div>
Souhlas s invazivn\u00edm v\u00fdkonem<\/span> <\/span> <\/a><\/div><\/div><\/div><\/div><\/div>

\u00a0<\/h2>

AMC - Amnial Fluid Collection<\/h2><\/section><\/div><\/main><\/div><\/div><\/div><\/div>
Prov\u00e1d\u00ed se\u00a0od\u00a016.\u00a0t\u00fddne<\/strong> t\u011bhotenstv\u00ed. Odb\u011br se\u00a0prov\u00e1d\u00ed v\u017edy pod\u00a0kontrolou ultrazvuku p\u0159es st\u011bnu b\u0159i\u0161n\u00ed velmi tenkou jehlou (0,5\u00a0mm v\u00a0pr\u016fm\u011bru). Odeb\u00edr\u00e1 p\u0159ibli\u017en\u011b 20\u00a0ml plodov\u00e9 vody.<\/strong> Toto mal\u00e9 mno\u017estv\u00ed se\u00a0b\u011bhem n\u011bkolika n\u00e1sleduj\u00edc\u00edch hodin po\u00a0odb\u011bru dopln\u00ed. Riziko komplikac\u00ed spojen\u00fdch s\u00a0v\u00fdkonem je 0,1\u00a0a\u017e 0,5%.<\/div><\/div>
Consent of the subject<\/span> <\/span> <\/a><\/div><\/div><\/div>
Souhlas s invazivn\u00edm v\u00fdkonem<\/span> <\/span> <\/a><\/div><\/div><\/div><\/div><\/div>

\u00a0<\/h2>

Selective foetal reduction<\/h2><\/section><\/div><\/main><\/div><\/div><\/div><\/div>

V p\u0159\u00edpad\u011b dvoj\u010detn\u00e9ho \u010di v\u00edce\u010detn\u00e9ho t\u011bhotenstv\u00ed se v n\u011bkter\u00fdch
\r\np\u0159\u00edpadech st\u00e1v\u00e1, \u017ee jeden z plod\u016f m\u00e1 n\u011bjakou v\u00fdvojovou vadu a druh\u00fd je
\r\nzdrav\u00fd. Plod s v\u00fdvojovou vadou m\u016f\u017ee negativn\u011b ovlivnit cel\u00e9 t\u011bhotenstv\u00ed.
\r\n V t\u011bchto p\u0159\u00edpadech je n\u011bkdy mo\u017en\u00e9 zastavit v\u00fdvoj plodu s vrozenou vadou a pokra\u010duje d\u00e1le t\u011bhotenstv\u00ed jen s jedn\u00edm zdrav\u00fdm plodem<\/strong>.
Tento v\u00fdkon je t\u00e9\u017e mo\u017en\u00e9 prov\u00e9st na \u017e\u00e1dost t\u011bhotn\u00e9, pokud chce
\r\npokra\u010dovat pouze v jedno\u010detn\u00e9 gravidit\u011b z d\u016fvod\u016f zdravotn\u00edch
\r\n\u010di soci\u00e1ln\u00edch, a to do 12. t\u00fddne t\u011bhotenstv\u00ed<\/strong>. V\u00fdkon je velmi obdobn\u00fd jako CVS<\/strong> (odb\u011br vzorku placenty) a riziko pro ztr\u00e1tu cel\u00e9ho t\u011bhotenstv\u00ed je cca 5-10%.<\/p><\/div><\/div>

Informed consent<\/span> <\/span> <\/a><\/div><\/div><\/div><\/div><\/div><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t
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\n\t\t\t\t\t\t\t\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/i><\/span>\n\t\t\t\t\t\t\t\t<\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\tNeinvazivn\u00ed v\u00fdkony - NIPT<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t

NIPT je zkratka pro neinvazivn\u00ed prenat\u00e1ln\u00ed testov\u00e1n\u00ed, n\u011bkdy se uv\u00e1d\u00ed screening<\/strong>. Neinvazivn\u00ed znamen\u00e1, \u017ee se testuje DNA plodu<\/strong> (voln\u00e1 fet\u00e1ln\u00ed DNA, cffDNA) z\u00a0krve matky<\/strong>. Pro z\u00edsk\u00e1n\u00ed DNA nen\u00ed pot\u0159ebn\u00fd odb\u011br p\u0159es b\u0159i\u0161\u016fn\u00ed st\u011bnu (dutinu) jako u invazivn\u00edch metod, tedy biopsie choriov\u00fdch klk\u016f nebo aminocent\u00e9zy (odb\u011br plodov\u00e9 vody), kter\u00e9 jsou alternativou k tomuto vy\u0161et\u0159en\u00ed. Firma Genetika Plze\u0148 pou\u017e\u00edv\u00e1 test PANORAMA ve spolupr\u00e1ci s Bioptickou laborato\u0159\u00ed s.r.o., kter\u00fd umo\u017e\u0148uje zjistit nej\u010dast\u011bj\u0161\u00ed chromozom\u00e1ln\u00ed poruchy plodu: Down\u016fv syndrom-trizomie chromozomu 21 (nadpo\u010detn\u00fd chromozom 21), Edwards\u016fv syndrom- trizomie chromozomu 18 (nadpo\u010detn\u00fd chromozom 18) a Patau\u016fv syndrom- trizomie chromozomu 13 (nadpo\u010detn\u00fd chromozom 13) a aneuploidie chromozomu X\u00a0a\u00a0Y. Chromozom\u00e1ln\u00ed vady se projevuj\u00ed zvl\u00e1\u0161tn\u00edm vzhledem, ment\u00e1ln\u00edm posti\u017een\u00edm a mnoho\u010detn\u00fdmi vadami org\u00e1n\u016f. L\u00e9\u010dba chromozom\u00e1ln\u00edch vad nen\u00ed v sou\u010dasn\u00e9 dob\u011b mo\u017en\u00e1. Pohlav\u00ed plodu je stanoveno pr\u016fkazem DNA chromozomu Y. Pacientka nebude informov\u00e1na o pohlav\u00ed plodu do konce 12. t\u00fddne t\u011bhotenstv\u00ed.

K testu je pot\u0159eba cca 20ml krve, kter\u00fd je prov\u00e1d\u011bn pomoc\u00ed vpichu jehly po dezinfekci m\u00edsta vpichu.

Prenat\u00e1ln\u00ed neinvazivn\u00ed vy\u0161et\u0159en\u00ed je bez rizika potratu nebo infekce a je vysoce p\u0159esn\u00e9. V\u00fdsledek vy\u0161et\u0159en\u00ed bude p\u0159\u00edpraven do 3 t\u00fddn\u016f od p\u0159ijet\u00ed vzorku.<\/p><\/div><\/div>

Requisition form<\/span> <\/span> <\/a><\/div><\/div><\/div>
Informed consent<\/span> <\/span> <\/a><\/div><\/div><\/div><\/div><\/div>

RISKS OF THE PROCEDURE<\/h2><\/div><\/div><\/div><\/div>

P\u0159i odb\u011bru krve m\u016f\u017ee, zcela ojedin\u011ble, doj\u00edt v m\u00edst\u011b vpichu jehly ke vzniku mod\u0159iny, nebo z\u00e1n\u011btu. I kdy\u017e posledn\u00ed publikovan\u00e9 \u00fadaje ov\u011b\u0159ily citlivost tohoto testu u trizomie chromozomu 21 \u2013 99%, trizomie chromozomu 18 \u2013\u00a096,4%, trizomie chromozomu 13 \u2013 99%, monozomie chromozomu X 92,9%, nem\u016f\u017ee b\u00fdt zat\u00edm pova\u017eov\u00e1n za diagnostick\u00fd test, ale pouze za vysoce efektivn\u00ed screeningov\u00fd test. Proto v p\u0159\u00edpad\u011b pozitivn\u00edho n\u00e1lezu posti\u017een\u00ed plodu je nutno v\u00fdsledek ov\u011b\u0159it invazivn\u00edm vy\u0161et\u0159en\u00edm choriov\u00fdch klk\u016f (CVS) nebo plodov\u00e9 vody (AMC), zat\u00edmco norm\u00e1ln\u00ed v\u00fdsledek testu nem\u016f\u017ee zcela vylou\u010dit posti\u017een\u00ed plodu. Je to d\u00e1no limitac\u00ed sou\u010dasn\u00e9 technologie.<\/p><\/div><\/div><\/div><\/div>

LIMITATIONS OF PANORAMA TEST<\/h2><\/div><\/div><\/div><\/div>

The test cannot be performed in the following instances:<\/p>