Differenza tra Screening Prenatali e Villo/Amnio

Sono qui raffrontate le informazioni ottenibili dall’analisi dei test sulla translucenza nucale e la Amniocentesi

 

Translucenza nucale detta anche bitest oppure screening down, ultrascreen, ultra screen, scatest, nuchal translucency, duotest (sono tutti sinonimi di uno screening ecografico e biochimico)

Villocentesi

o Amniocentesi

Analisi statistica (NO diagnosi): Esame per valutare il rischio, con piu’ o meno accuratezza, esclusivamente della Sindrome di Down e Trisomia 18. Un tempo la si riteneva utile anche ad ipotizzare un rischio di cardiopatia. Ora tale ipotesi è ridimensionata.NB: Mai farsi spaventare o rassicurare da un test di questo tipo. Si tratta di screening. Nessuna certezza. Diagnosi certa di:– Tutte le sindromi determinate da anomalie numeriche e morfologiche dei cromosomi (Sindrome di Down, S. di Edwards, S. di Patau, S. di Klinefelter, S. di Turner, Triplodia, Triplo X, delezione 18q-, microdelezioni, micro duplicazioni riarrangiamenti cromosomici traslocazioni ecc.. – Sindromi genetiche ad eredità mendeliana con mutazioni note segreganti nella famiglia (es: Fibrosi Cistica, Beta Talassemia, Distrofia Muscolare di Duchenne, X-Fragile, Sordità Congenita) – Diagnosi certa relativamente delle seguenti patologie determinate da microdelezioni e duplicazioni ricercate (non altre): – Poliposi adenomatosa del
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colon, APC – Miller-Dieker lissencephaly syndrome – Alagille syndrome – Muscular dystrophy (Duchenne, Becker) – ATR-16 – ATRX – Nail-Patella syndrome – Neurofibromatosis 1 (NF1) – Neurofibromatosis 2 (NF2) – Autism, X-linked, susceptibility to, 2, NLGN4 – Axenfeld-Rieger – NPHP1 Nephronophthisis 1 – Azoospermia factor a – Azoospermia factor b – Sex-determining region Y, SRY – Ovarian Dysfunction – Xq26 – Patau Syndrome Trisomy 13 – Beckwith-Wiedemann syndrome – Pelizaeus-Merzbacher disease – Brachydactyly – mental retardation syndrome – D2S2338 – Potocki-Shaffer syndrome – Prader Willi Syndrome/Angelman – Syndrome di Bruton – Prader-Willi-like phenotype SIM1 – Canavan disease (ASPA) – Retinoblastoma – Rett syndrome – Cat eye Syndrome – Rieger syndrome Type – Charcot-Marie-Tooth disease type 1 – Charcot-Marie-Tooth X-linked 1 – Rubinstein-Taybi – Saethre-Chotzen Syndrome – Cleidocranial dysplasia – Cornelia de Lange Syndrome – Simpson-Golabi-Behmel syndrome – Cri du Chat Syndrome – Smith-Magenis syndrome – Dandy-Walker Syndrome DWS – Sotos Syndrome – DiGeorge syndrome (DGS) – DiGeorge syndrome critical region 2 – Split-Hand/Foot Malformation – Split-Hand/Foot Malformation 4 – Down Syndrome – Down syndrome critical region – Split-Hand/Foot Malformation 5 – Steroid sulfatase deficiency – Early-onset Alzheimer disease – Synpolydactyly/Syndactyly Type II – Edwards Syndrome Trisomy 18 – Tuberous Sclerosis 2 TSC2 – Feingold Syndrome – Turner Syndrome 45,X – Greig cephalopolysyndactyly syndrome – Van der Woude Syndrome – Heterotaxy, visceral, X-linked – WAGR syndrome PAX6 – Holoprosencephaly 1 – Holoprosencephaly 2 – Holoprosencephaly 3 – Williams Syndrome – Wolf-Hirschhorn candidate1 (WHSC) – X-linked lissencephaly – leri-weilldischondrostosys LWD Xp – Kallmann syndrome 1 (KAL1) – Kallmann Syndrome 2 (KAL2) – 14q terminal deletion syndrome (van Karnebeek) – 1p36deletion (monosomy

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1p36) – Klinefelter Syndrome 47,XXY – Langer Giedion sex reversal – Microphthalmia with linear skin defects – Noonan Syndrome 1 – Ichthyosis, X-Linked – Canavan Disease – Autism, X-Linked (NLGN4) – Lubs X-Linked mental retardation Syndrome – Premature ovarian failure, X-Linked- Possibilità di eseguire anche lo Screening sulle malattie metaboliche (malattie rare)