| Trisomia 13
Sinonim – sindrom Patau Definiţie – trisomie autosomalã a cromozomului 13 Generalitãţi · Primul trimestru -crește translucenţa nucalã (NT) · Al doilea trimestru -Multiple malformaţii majore (peste 90%) -holoprozencefalie -anomalii faciale la nivel median -animalii cardiace -polidactilie -restricţie de creștere intrauterinã (IUGR) Ecografic · Anomalii de sistem nervos central (70%) -holoprozencefalia -microcefalia -anomalii ale cerebelului (sindrom Dandy-Walker sau hipoplazie a cerebelului) -agenezia corpului calos -ventriculomegalia · Anomalii ale feţei (50%) -anomalii ale orbitelor (ciclopia, hipotelorism, microftalmia, anoftalmia) -proboscis (nasul are aspectul de tub, situat dea- supra orbitelor si se vede mai bine din profil) -buza despicatã -inserţie joasã a urechilor · Anomalii musculo-scheletale (50%) -deget suplimentar de partea ulnei -mâini încleștate · Anomalii cardiace (80%) -defect de sept ventricular -defect de sept atrial -hipoplazie cardiacã stângã -atrezia aortei -atrezia mitralei -stenozã pulmonarã -anomalii ale întoarcerii venoase · Anomalii renale -displazie chisticã -adesea dilatat -hidronefrozã -duplicãri · Anomalii gastro-intestinale -omfalocel -hernie ombilicalã -vezicã ecogenã · IUGR (50%) Date clinice · Prezente majoritatea semnelor și simptomelor -caracteristicã este holoprozencefalia · Creșterea translucenţei nucale în trim. I · Modificãri la cvadruplu test -↑ α-fetoproteina (AFP) -↑ inhibina A -HCG normal -estriol normal · Modificãri la dublu test -↓ β-HCG -↓ PAPP-A
Tratament · Se recomandã întreruperea cursului sarcinii · Tocoliza și cezariana se evitã · Supravieţuitorii prezintã frecvent retard, handicap |
Trisomy 13
Synonym- Patau syndrome Definition- autosomal trisomy of chromosome 13 General features · First trimester -increased nuchal translucency (NT) · Second trimester -multiple major anomalies in more than 90% -holoprosencephaly -midline facial anomalies -cardiac defects -polydactily -early intrauterine growth restriction (IUGR) Ultrasonography · Central nervous system anomalies (70%) -holoprosencephaly -microcephaly -cerebellar anomalies (Dandy-Walker malformation or cerebellar hypoplasia) -agenesis of corpum callosum -ventriculomegaly · Facial anomalies (50%) -orbit anomalies (cyclopia, hypotelorism, micro- phthalmos, anophthalmia) -proboscis ( tube-like nose located superior to orbits and seen best on profile view) -cleft lip -low set ears · Musculoskeletal findings (50%) -extra finger on ulna side -clenched hand · Cardiac defects (80%) -ventricular septal defect -atrial septal defect -hypoplastic left heart -aortic atresia -mitral atresia -pulmonary stenosis -anormalous pulmonary venous return · Renal anomalies -cystic dysplasis -often enlarged -hydronephrosis -duplication anomalies · Gastrointestinal anomalies -omphalocele -umbilical hernia -echogenic bowel · IUGR (50%) Clinical issues · Most common signs/ symptoms -holoprosencephaly is hallmark anomaly · Increased first trimester nuchal translucency · Abnormal maternal serum quadruple test screen -↑ α-fetoprotein (AFP) -↑ Inhibin A protein – normal HCG (human chorionic gonadotropin protein) – normal estriol · Abnormal first trimester serum biochemistry result -↓ β-HCG -↓PAPP-A (pregnancy associated plasma protein A) Treatment · Termination offered · Tocolysis and cesarean section avoided · Survivors are severly retarded and handicapped
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