ΤΙ ΑΝΙΧΝΕΥΕΙ

ΠΟΣΟΣΤΟ ΑΝΙΧΝΕΥΣΗΣ

Τρισωμία 21 (σύνδρομο Down)

ΝΑΙ 
99,12%

Τρισωμία 18 (σύνδρομο Edwards)

Τρισωμία 13 (σύνδρομο Patau)

ΣΥΜΠΛΗΡΩΜΑΤΙΚΕΣ ΕΞΕΤΑΣΕΙΣ

 

Πρόβλεψη του φύλου του εμβρύου

ΝΑΙ 
98%

Τρισωμία 9

Το ποσοστό ανίχνευσης δεν έχει ακόμα επικυρωθεί

Τρισωμία 16

Τρισωμία 12

ΑΝΕΥΠΛΟΕΙΔΙΕΣ ΦΥΛΕΤΙΚΩΝ ΧΡΩΜΟΣΩΜΑΤΩΝ

 

Μονοσωμία του Χ (σύνδρομο Turner)

ΝΑΙ
95%

XXY (σύνδρομο Klinefelter)

XXX

XΥY

ΜΙΚΡΟΕΛΛΕΙΨΕΙΣ-ΜΙΚΡΟΔΙΠΛΑΣΙΑΣΜΟΙ

 

63 μικροελλειπτικά σύνδρομα συνολικά

Το ποσοστό ανίχνευσης δεν έχει ακόμα επικυρωθεί

(ίδε στον παρακάτω πίνακα)

 
 

 

 

11q11-q13.3 duplication syndrome

Distal arthrogryposis 28 type (DA2B)

12q14 microdeletion syndrome

Smith-Magenis syndrome

14q11-q22 deletion syndrome

Holoprosencephaly 4 type (HPE4)

15q26 overgrowth syndrome

Feingold syndrome

16p11.2-p12.2 microdeletion syndrome

Diaphragmatic hernia, congenital (HCD/DIH1)

16p11.2-p12.2 microduplication syndrome

Dyggve-Melchior-Clausen syndrome (DMC)

17q21.31 deletion syndrome

Holoprosencephaly 6 type (HPE6)

17q21.31 duplication syndrome

Jacobsen syndrome

1p36 microdeletion syndrome

Langer-Giedion syndrome (LGS)

1q21.2 deletion syndrome

Prader-Willi-like syndrome

1q21.2 duplication syndrome

Rieger syndrome 1 type (RIEG1)

Wilms tumor 1 (WT1)

Van der Woude syndrome (VWS)

2q33.1 deletion syndrome

Cat-eye syndrome (CES)

5q21.1-q31.2 deletion syndrome

Monosomy 9p syndrome

8p23.1 deletion syndrome

Orofaciodigital syndrome

8p23.1 duplication syndrome

Panhypopituitarism, X-linked

Alpha thalassemia, mental retardation syndrome

Potocki-Lupski syndrome

Androgen insensibility syndrome (AIS)

Leukodystrophy with 11q14.2-q14.3

Angelman syndrome/Prader Willi syndrome

Mental retardation X-linked growth horm. Def

Aniridia II & WAGR syndrome

Saethre-Chotzen syndrome

Bannayan-Riley-Ruvalcaba syndrome (BRRS)

Sensorineural deafness and male infertility

Branchlootorenal dysplasia syndrome (BOR)/Melnick-Frazer syndrome

Duchenne muscular dystrophy (DMD);Duchenne/Becker mascular dystrophy (DMD/BMD)

Microphthalmia syndrome 6 type, pituitary hypoplasia

Split-hand/Foot malformatioon-5 type (SHFM5)

Chromosome 10q deletion syndrome

Split-hand/Foot malformatioon-3 type (SHFM3)

Chromosome 10q22.3-q23.31 microdeletion syndrome

Trichorhinophalangeal syndrome 1 type (TRPS1)

Chromosome 18p deletion syndrome

Trichorhinophalangeal syndrome type I

Chromosome 18q deletion syndrome

Microphthalmia with linear skin defects

Cornelia de Lange syndrome (CDLS)

1q41-q42 microdeletion syndrome

Cowden syndrome (CD)

Cri du Chat (5p deletion) syndrome

X-linked lymphoproliferative syndrome (XLP)

Xp11.22-p11.23 microduplication syndrome

Dandy-Walker syndrome (DWS)

DiGeorge syndrome 2 type (DGS2)

 

Holoprosencephaly 1 type (HPE1)