Allantoic cysts of the umbilical cord are embryological remnants of either the allantois or the omphalomesenteric duct. These cysts represent a rare ultrasound finding especially in the first ...trimester. Allantoic cysts can be associated with fetal malformations and chromosomal aberrations or are characterised by spontaneous resolution and good pregnancy outcome. Here we present a rare case of umbilical cord cyst detected by ultrasound in the first trimester with later resolution and favourable pregnancy outcome.
We report the first trimester three-dimensional ultrasonographic findings in a 13-week-old fetus with complex phenotype and a de novo 4.7 Mb multigene deletion encompassing chromosome region ...20q13.13-q13.2 detected by chromosomal microarray. Fetal sonography detected radial-ray anomalies in the form of bilateral absence of thumbs and the left club hand deformity. The presence of single atrioventricular canal instead of the atrial septal defect typical for Holt-Oram syndrome pointed us to rather suspect the SALL4 related diseases. Central nervous system anomaly in the form of enlarged lateral brain ventricles with choroid plexus shifted backwards was not previously reported as a part of SALL4 related disorders. The pregnancy was terminated at 14 + 3 weeks of pregnancy and the autopsy confirmed ultrasonographic findings. Deleted region included 38 genes, where only SALL4, ADNP and KCNB1 heterozygote pathogenic variants were described to be cause of syndromic forms. Radial ray anomalies are common part of clinical picture of SALL4 related disorders. Despite the lack of prenatally described cases, we hypothesized that maldevelopment of lateral brain ventriculomegaly could be very early sonographic sign of disturbed ADNP expression causing Helsmoortel-Van der Aa syndrome, but in some extent also of KCNB1 related early-onset epileptic encephalopathy. Furthermore, the possible dosage-dependent influence of recessive genes located in this region cannot be also excluded. The use of genome-wide technologies enables the detection of subtle chromosomal imbalances and more precise familial genetic counseling regarding actual and future pregnancies.
Sirenomelija i sindrom kaudalne regresije su rijetke kongenitalne malformacije. Iako se sirenomelija prijašnjih godina smatrala teškim oblikom sindroma kaudalne regresije, danas se zna da su to dva ...različita stanja kojima je zajedničko da različitim patogenetskim mehanizmima nastaju u ranom embrionalnom razvoju ploda. Za sirenomeliju se smatra da nastaje zbog tzv. »fenomena krađe krvi«, a sindrom kaudalne regresije zbog poremećaja u diferencijaciji mezoderma. Jedan i drugi poremećaj nastaju u ranom embrionalnom razvoju ploda tijekom četvrtog postkoncepcijskog tjedna, za vrijeme razdoblja gastrulacije. U prikazu dva slučaja antenatalno dijagnosticiranih malformacija prikazane su razlike u patogenezi, pridružene anomalije, antenatalna dijagnostika te prognoza, s posebnim naglaskom na antenatalni probir malformacija koji omogućuje rano postavljanje dijagnoze te indikaciju za rano, manje traumatično dovršenje trudnoće.
Posljednjih se desetljeća bilježi i relativni i apsolutni porast broja žena oboljelih od adenokarcinoma vrata maternice. Rana dijagnoza glandularnih promjena čiji maligni potencijal još nije potpuno ...spoznat, ključna je. Terminologija koja se odnosi na glandularne atipije raznolika je pa postoje i poteškoće u iznalaženju klasifikacije. Kolposkopija može ukazati na glandularne atipije iako je vrijednost ove metode daleko manja nego u dijagnostici skvamoznih lezija. Prikazane su tri bolesnice u kojih je nađena kolposkopska slika sumnjiva na glandularnu leziju a dijagnoza adenokarcinoma in situ potvrđena elektroekscizijskom biopsijom. Diskutira se i o vrijednosti raznih metoda biopsije ali i mogućim konzervativnim načinima liječenja u žena koje žele očuvati fertilitet.
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