Non-invasive Prenatal Testing: Technologies, Clinical Assays and Implementation Strategies for Women’s Healthcare Practitioners

Swanson, Amy; Sehnert, Amy J.; Bhatt, Sucheta

doi:10.1007/s40142-013-0010-x

Cited by 35 publications

(33 citation statements)

References 47 publications

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“…Both of these are invasive procedures and pose risks to the mother & fetus e.g., most significantly a risk of miscarriage 1 in 200-400 and 1 in 100-200 respectively 13 . Of course the accuracy of these methods is estimated to be 98-99% 14 .…”

Section: Prenatal Diagnosismentioning

confidence: 99%

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Non invasive prenatal diagnosis of ?- Thalassemia, A narrative review study

Zafari

Kowsaryan

Gill

et al. 2017

Bangladesh J Med Sci

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Abstract:β-Thalassemia is major monogenic disorder. A practical way to prevention of Thalassemia is identification of carries couples; genetic counseling and offer prenatal diagnose services for both carrier couples. Routine prenatal diagnose are chorionic villus sampling and amniocentesis, but both of them are invasive method and they can be ended to bleeding and pregnancy loss. Recently non invasive prenatal diagnosis has been done by researchers for early detection of pre-eclampsia, chromosomal aneuploidies, RhD-genotyping. Regarding non invasive prenatal diagnosis of β-Thalassemia, detection of paternally inherited mutation in maternal plasma is possible. If the fetus inherited normal paternal allele the performance of invasive method it is not necessary, so this method can be eliminate 50% performance of routine prenatal diagnosis.

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Section: Prenatal Diagnosismentioning

confidence: 99%

“…For decades, researchers and physicians introduced NIPD in a world 13 . Now NIPD via free fetal DNA and fetal cell in maternal circulation is performed for determination fetal sex, fetal Rh and genetic disorders.…”

Section: Non Invasive Prenatal Diagnosis (Nipd)mentioning

confidence: 99%

Non invasive prenatal diagnosis of ?- Thalassemia, A narrative review study

Zafari

Kowsaryan

Gill

et al. 2017

Bangladesh J Med Sci

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“…The cff‐DNA is continually being released into maternal circulation from placental trophoblastic cells undergoing normal apoptosis . One test currently available, NIPT, is designed to detect aneuploidy, specifically trisomies 21, 18, and 13, as early as 10 weeks' gestation by measuring proportionally additional chromosome cff‐DNA from the fetus …”

Section: An Overview Of Prenatal Screening and Diagnostic Toolsmentioning

confidence: 99%

An Update on Current Prenatal Testing Options: First Trimester and Noninvasive Prenatal Testing

Latendresse¹,

Deneris²

2015

J Midwife Womens Health

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Prenatal genetic testing is rapidly evolving and requires that prenatal care providers stay up-to-date with accurate, evidence-based knowledge. Noninvasive prenatal testing (NIPT), first trimester maternal serum markers, and fetal nuchal translucency are the most recently developed screening tests added to the testing repertoire for detection of chromosomal disorders such as trisomy 21 (Down syndrome). NIPT is a new, highly accurate technique that uses maternal serum and is rapidly being introduced as a first trimester screening tool and increasingly being requested by pregnant women. The American College of Obstetricians and Gynecologists recommends that all pregnant women be offered first and second trimester screening options, regardless of risk status, but does not yet recommend NIPT. It is important for prenatal care providers to be aware of and understand these testing options in order to assist women and their families in making well-informed decisions during pregnancy. The purpose of this article is to update midwives and other prenatal care providers on the current prenatal genetic testing options available and how to appropriately offer and discuss them with their clients. We discuss how these tests work; what to do with the results; and most importantly, how to support and communicate accurate information to women and families as they navigate through an increasingly complicated array of testing choices.

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“…Előnyös tulajdonságai (korai megjelenés, gyors terhesség utáni elimináció, hozzáférhetőség az anyai vérből) mellett fontos kiemeljük, hogy a magzati szabad DNS az anyaival körülbelül 99%-os hasonlóságot mutat [31], ezenkívül mennyisége az összes szabad DNS-hez képest csekély, így detektálásához rendkívül érzékeny vizsgáló-módszerek szükségesek, amelyek az új generációs eljárá-sok térhódításával napjainkra elérhetővé, és ami szintén lényeges, megfi zethetővé váltak (2. ábra).…”

Section: Magzati Szabad Dnsunclassified

Új generációs szekvenálás és használata az aneuploidiák nem invazív praenatalis vizsgálatában

et al. 2015

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Az új generációs szekvenálási eljárások fejlődésével a génszekvenálás új korszaka köszöntött be, amely a noninvazív aneuploidiavizsgálatokat is forradalmasította. Összefoglaló közleményükben a szerzők a teljesebb kép érdekében bizonyos első generációs szekvenálási módszerek leírása után lépésről lépésre ismertetik az egyes új generációs eljárások eltérő elméleti és technikai hátterét. Közleményük második felében a fejlett szekvenálási eljárásokat igénylő, magzati szabad DNS segítségével történő noninvazív praenatalis tesztelésre helyezik a hangsúlyt: a vizsgálat elméleti alapjainak és konkrét technikai kivitelezésének összefoglalása után ismertetik a vizsgálat jelenlegi szerepét és használhatósá-gát az aneuploidiadiagnosztikában. Megállapítják, hogy a noninvazív praenatalis tesztelés a jelenleg leghatékonyabb aneuploidiaszűrő módszer magas kockázatú terhesek esetén, hatékonysága pedig alacsony kockázatú terhességek esetén is tanulmányokkal igazolható. Orv. Hetil., 2015, 156(26), 1041-1048. Kulcsszavak: új generációs szekvenálás, szabad DNS, noninvazív praenatalis tesztelés Next generation sequencing and its applications in non-invasive prenatal testing of aneuploidiesThe development of the new generation sequencing techniques brought a new era in the fi eld of DNA sequencing, that also revolutionized the prenatal screening for aneuploidy. In order to provide a more complete view, the authors describe some fi rst generation methods as well as the theoretical and technical background of the next generation methods. In the second part of this review, the authors focuse on non-invasive prenatal testing, which is a fetal cellfree DNA based method requiring advanced sequencing procedures. After discussing the theoretical and technical background, the authors review current application and utility of non-invasive prenatal testing. They conclude that non-invasive prenatal testing is the most effective screening test in high risk pregnancies and its effi ciency can be justifi ed in studies involving low risk pregnancies as well.Keywords: next generation sequencing, cell-free DNA, non-invasive prenatal testing Babay, L. É., Horányi, D., Rigó, J. Jr., Nagy, Gy. R. [Next generation sequencing and its applications in non-invasive prenatal testing of aneuploidies]. Orv. Hetil., 2015, 156(26), 1041-1048. (Beérkezett: 2015 elfogadva: 2015. május 14.) Rövidítések A = adenin; ATP = adenozin-trifoszfát; C = citozin; CRT = (cyclic reversible termination) ciklikus reverzíbilis termináció; ddNTP = didezoxinukleotid-trifoszfát; DNS = dezoxiribonukleinsav; dNTP = dezoxinukleotid-trifoszfát; FF = magzati frakció; G = guanin; GE = genomegység; MPS = (massively parallel sequencing) masszív párhuzamos szekvenálás; NCV = (normalized chromosome value) normalizált kromoszomális érték; NGS = (next generation sequencing) új generációs szekvenálás; NIPT = nem invazív praenatalis tesztelés; PCR = (polymerase chain reaction) polimeráz lánc-reakció; s-MPS = (shotgun massively parallel sequencing) teljes

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Non-invasive Prenatal Testing: Technologies, Clinical Assays and Implementation Strategies for Women’s Healthcare Practitioners

Cited by 35 publications

References 47 publications

Non invasive prenatal diagnosis of ?- Thalassemia, A narrative review study

Non invasive prenatal diagnosis of ?- Thalassemia, A narrative review study

An Update on Current Prenatal Testing Options: First Trimester and Noninvasive Prenatal Testing

Új generációs szekvenálás és használata az aneuploidiák nem invazív praenatalis vizsgálatában

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