Nieinwazyjna diagnostyka prenatalna
trisomii 21,18 i 13 z wykorzystaniem wolnego pozakomórkowego DNA płodu
Noninvasive prenatal diagnosis of trisomy 21, 18 and 13 using cell – free fetal DNA
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11 I Klinika Ginekologii i Położnictwa – CMKP SPSK im. prof. Orłowskiego, Warszawa, Polska
2 Zakład Genetyki, Instytut Psychiatrii i Neurologii, Warszawa, Polska
Streszczenie
Trisomie chromosomów 21, 18 i 13 należą do najczęściej diagnozowanych aberracji chromosomowych u nowo- rodków. Obecnie w celu oceny ryzyka ich wystąpienia wykonuje się badanie ultrasonograficzne oraz testy bioche- miczne. Stwierdzenie na podstawie testów przesiewowych wysokiego ryzyka trisomii u płodu jest wskazaniem do oznaczenia kariotypu klasyczną metodą cytogenetyczną, która niesie za sobą potrzebę pobrania materiału genetycznego płodu. Badania inwazyjne (amniopunkcja, biopsja trofoblastu) obarczone są ryzykiem straty ciąży.
Wykrycie obecności wolnego pozakomórkowego DNA płodu (cffDNA – cell free fetal DNA) we krwi matki zapocząt- kowało szereg badań nad możliwościami jego wykorzystania w diagnostyce prenatalnej. cffDNA stanowi jednak tylko niewielką część całkowitej puli wolnego DNA we krwi matki, dlatego jego analiza jest trudna.
Wprowadzenie metody masywnego równoległego sekwencjonowania umożliwiło zastosowanie nieinwazyjnych testów w praktyce klinicznej, a prowadzone w ostatnich latach liczne badania dowiodły skuteczności metody w diagnostyce prenatalnej trzech najczęściej występujących trisomii.
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Abstract
Trisomy 21, 18 and 13 are the most common trisomies diagnosed in newborns. Screening methods consist of ultrasound and maternal serum markers. High risk for fetal aneuploidies is an indication for routine karyotyping, which requires collection of fetal tissue through amniocentesis or chorionic villous sampling. They are invasive procedures and carry a potential risk of miscarriage. The discovery of cell free fetal DNA (cffDNA) in maternal blood offered new opportunities for noninvasive prenatal diagnosis.
Otrzymano: 22.02.2012
Zaakceptowano do druku: 10.06.2013 Adres do korespondencji:
Katarzyna Gorzelnik
I Klinika Ginekologii i Położnictwa – CMKP SPSK im. prof. Orłowskiego w Warszawie ul. Czerniakowska 231, 00-416 Warszawa, Polska
e-mail: gorzelnik.katarzyna@gmail.com
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Piśmiennictwo
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