Wilsonova bolest u trudnoći

Wilson’s disease is a rare autosomal recessive disorder of copper metabolism. It causes cirrhosis of the liver, consequently followed by disorder of the menstrual cycle and infertility. Successful decopperizing may lead to restoration of the ovulatory cycle and enable pregnancy. Increased copper levels may cause preeclampsia, intrauterine growth restriction and neurologic damages in the fetus. Pregnant women with decompensated liver cirrhosis face more complications, including bleeding from esophageal varices, liver failure, encephalopathy, and rupture of the splenic artery. We present a case of Wilson’s disease in a patient who had spontaneously conceived three times. The first pregnancy ended with delivery of a healthy baby at term. In second pregnancy, medically induced abortion was performed in the 12th week because of deterioration of the underlying disease, liver cirrhosis with portal hypertension. In the same year, the patient underwent liver transplantation. Two years after the transplantation, the patient spontaneously conceived and delivered vaginally a healthy child.Wilsonova bolest je rijedak autosomno recesivni poremećaj metabolizma bakra. Uzrokuje cirozu jetre te posljedično poremećaj menstruacijskog ciklusa i infertilitet. Uspješna dekuprinizacija može dovesti do ponovne pojave ovulacijskih ciklusa i omogućiti trudnoću. Povećane vrijednosti bakra mogu uzrokovati preeklampsiju, intrauterini zastoj u rastu te neurološka oštećenja ploda. Trudnoća kod trudnica s dekompenziranom cirozom jetre povećava komplikacije kod majke, uključujući krvarenje iz varikoziteta jednjaka, zatajenje jetre, encefalopatije i rupture lijenalne arterije. Prikazuje se bolesnica s Wilsonovom bolešću koja je tri puta spontano zanijela. Prva trudnoća okončana je porodom zdravog djeteta u terminu. Druga trudnoća prekinuta je u 12. tjednu medicinski induciranim pobačajem zbog pogoršanja osnovne bolesti, ciroze jetre s portalnom hipertenzijom. Iste godine u bolesnice je učinjena transplantacija jetre, a dvije godine nakon transplantacije spontano je zanijela i vaginalno rodila zdravo dijete

SIRENOMELIA AND CAUDAL REGRESSION SYNDROME – THE RARE CONGENITAL ANOMALIES

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.Sirenomelia and caudal regression syndrome present a rare congenital malformation. Although sirenomelia was thought to be severe type of the caudal regression syndrome in the previous years, it is known today that the sirenomelia and the caudal regression syndrome are, in fact, two mutually diverse states. Both states appear during the early embryogenic development of the fetus due to the different pathogenic mechanisms. The sirenomelia is considered to appear due to the vascular steal theory, whereas the caudal regression syndrome appears due to the disorder of the mesoderm differentiation. The sirenomelia and caudal regression syndrome come into existence in the early embryologic development of the fetus during the fourth postconceptional week at the period of gastrulation. The two reported case studies show the distinction between the pathogenesis, as well as the associated anomalies based upon the antenatally diagnosed malformations. The antenatal diagnostics and prognosis are discussed, especially emphasizing the antenatal screening of the malformations which enables the early diagnosis, as well as the indications for the early and less traumatic pregnancy termination

Pregnancy and Vaginal Delivery in Epidural Analgesia in Woman with Cerebrospinal Fluid Shunt

Hydrocephalus is a medical condition characterized by enlargement of cerebral ventricles due to abnormal cerebro- spinal fluid accumulation. Hydrocephalic women with cerebrospinal fluid (CSF) shunts are now surviving to reproduc- tive age, but still there are doubts regarding the mode of delivery, analgesia and anesthesia. Postpartal complications are more frequently described in deliveries ended by cesarean section than in spontaneous vaginal deliveries. We present a case of labor in the 32-year old woman, with congenital hydrocephalus and a preexisting ventriculoperitoneal (VP) shunt. After thorough review of current literature, we came to conclusion that without absolute neurosurgical indication or acute development of listed symptoms (headaches, irritability, light sensitivity, hyperesthesia nausea, vomiting, ver- tigo, migraines, seizures, weakness in the arms or legs, strabismus and double vision) the best way to finish the preg- nancy of woman with VP shunt is spontaneous vaginal delivery with the use of epidural analgesia, mediolateral episiotomy and vacuum extraction

Differentiation of human trophoblast cells in normal and pathological pregnancy

Diferencijacija trofoblasta je proces koji uključuje epitelno - mezenhimsku tranziciju (EMT) u kojoj ključnu ulogu igraju akteri signalnog puta Wnt. SFRP1 i SFRP3 su antagonisti Wnt signalnog puta koji nastoje održati epitelne karakteristike stanica dok je protein TCF1 zadužen za invaziju stanica trofoblasta. Cilj ovog istraživanja bio je ispitati izraženost antagonista signalnog puta Wnt, proteina SFRP 1 i SFRP3, u zdravim i patološkim posteljicama (IUGR, hipertenzivni poremećaji, gestacijski dijabetes) kao i izraženost pozitivnog regulatora istog signalnog puta, proteina TCF1. Odabirom nezavisnog biljega epitelnog fenotipa, proteina ELF5, dodatno se potvrdio dobiveni rezultat. Imunohistokemijskim metodama dobili smo jaču izraženost SFRP1 i SFRP3 u normalnim prijevremenim nego u terminskim posteljicama. Ukupna razina SFRP1 i SFRP3 antigena bila je povišena u posteljicama svih patoloških skupina u odnosu na terminske kontrole. Zanimljivo je, da nije bilo statistički značajne razlike između normalnih prijevremenih i terminskih IUGR i preeklamptičnih posteljica. U korionskim resicama posteljica iz trudnoća kompliciranih gestacijskim dijabetesom izraženost SFRP1 i SFRP3 bila je manja, dok je ukupna razina TCF1 bila povišena, što ukazuje na izraženiju proliferaciju trofoblasta. Niža razina proteina SFRP3 nađena je i u korionskim resicama prijevremenih patoloških posteljica u odnosu na zdrave dok mu je izraženost u decidui poput SFRP1. Ovakvi nalazi ukazuju na moguću ulogu SFRP3 u poticanju staničnog rasta u normalnom tkivu resica, odnosno na dvostruku ulogu SFRP3 tijekom placentacije. Ekspresija ELF5 manja je u zdravim prijevremenim nego u terminskim posteljicama što ukazuje na aktivnu EMT. U patološkim prijevremenim i terminskim posteljicama razina ELF5 značajno je veća u usporedbi s odgovarajućim kontrolama. Ovi nalazi potvrđuju ulogu ELF5 u supresiji EMT u patološkim trudnoćama. Naši nalazi podupiru teoriju prema kojoj Wnt ima dinamičnu ulogu u patogenezi IUGR, hipertenzivnih poremećaja i gestacijskog dijabetesa. Također smo utvrdili povezanost ELF5 s poremećajima trudnoće povezanim s neadekvatnom invazijom i diferencijacijom trofoblasta. Možemo zaključiti da poremećaj regulacije mreže signalnih puteva narušava homeostazu u posteljičnom tkivu i vodi do različitih bolesti vezanih uz trudnoću.Differentiation of trophoblast cells is a process that involves an epithelialmesenchymal transition (EMT) in which components of the Wnt signaling pathways play a crucial role. SFRP1 and SFRP3 act as Wnt antagonists, tending to maintain the characteristics of epithelial cells while TCF1 is implicated in trophoblast cell invasion. The aim of this study was to analyse the expression of Wnt signaling pathway antagonists, SFRP1 and SFRP3 proteins, and its positive regulator TCF1 in normal and pathological placentas ( IUGR, hypertensive disorders, gestatonal diabetes). An independent marker of epithelial phenotype ELF5, was chosen to additionally confirm our findings. Immunohistochemical analysis demonstrated elevated levels of SFRP1 and SFRP3 in normal preterm compared to term placentas. Total levels of SFRP1 and SFRP 3 proteins were also increased in all groups of pathological placentas compared to term controls. Interestingly, there was no statistical difference between normal preterm and term IUGR and preeclamptic placentas. Placentas from pregnancies complicated by gestational diabetes showed lower expression of SFRP1 and SFRP3 in chorionic villi and higher total levels of TCF1, demonstrating a more expressed trophoblastic proliferation. Lower levels of SFRP3 were also found in chorionic villi of preterm pathological placentas compared to healthy placentas, while its expression in decidual tissue was similar to SFRP1. These findings suggest the involvement of SFRP3 in cell growth promotion of normal villous tissue and indicate that SFRP3 may play a dual role during placentation. ELF5 expression was lower in healthy preterm than in term placentas, indicating active EMT. Pathological preterm and term placentas showed significantly higher ELF5 levels compared to control groups. These findings establish ELF5 as a suppressor of EMT in pathological pregnancies. Our data support the theory in which Wnt pathway has a dynamic role in the pathogenesis of IUGR, hypertensive disorders and gestational diabetes. We also found significant association of ELF5 with pregnancy disorders which have been related to the regulation of trophoblastic invasion and differentiation. We can conclude that impaired regulation of the Wnt signalling pathways can disrupt tissue homeostasis and lead to different pregnancy-related diseases

Differentiation of human trophoblast cells in normal and pathological pregnancy

Diferencijacija trofoblasta je proces koji uključuje epitelno - mezenhimsku tranziciju (EMT) u kojoj ključnu ulogu igraju akteri signalnog puta Wnt. SFRP1 i SFRP3 su antagonisti Wnt signalnog puta koji nastoje održati epitelne karakteristike stanica dok je protein TCF1 zadužen za invaziju stanica trofoblasta. Cilj ovog istraživanja bio je ispitati izraženost antagonista signalnog puta Wnt, proteina SFRP 1 i SFRP3, u zdravim i patološkim posteljicama (IUGR, hipertenzivni poremećaji, gestacijski dijabetes) kao i izraženost pozitivnog regulatora istog signalnog puta, proteina TCF1. Odabirom nezavisnog biljega epitelnog fenotipa, proteina ELF5, dodatno se potvrdio dobiveni rezultat. Imunohistokemijskim metodama dobili smo jaču izraženost SFRP1 i SFRP3 u normalnim prijevremenim nego u terminskim posteljicama. Ukupna razina SFRP1 i SFRP3 antigena bila je povišena u posteljicama svih patoloških skupina u odnosu na terminske kontrole. Zanimljivo je, da nije bilo statistički značajne razlike između normalnih prijevremenih i terminskih IUGR i preeklamptičnih posteljica. U korionskim resicama posteljica iz trudnoća kompliciranih gestacijskim dijabetesom izraženost SFRP1 i SFRP3 bila je manja, dok je ukupna razina TCF1 bila povišena, što ukazuje na izraženiju proliferaciju trofoblasta. Niža razina proteina SFRP3 nađena je i u korionskim resicama prijevremenih patoloških posteljica u odnosu na zdrave dok mu je izraženost u decidui poput SFRP1. Ovakvi nalazi ukazuju na moguću ulogu SFRP3 u poticanju staničnog rasta u normalnom tkivu resica, odnosno na dvostruku ulogu SFRP3 tijekom placentacije. Ekspresija ELF5 manja je u zdravim prijevremenim nego u terminskim posteljicama što ukazuje na aktivnu EMT. U patološkim prijevremenim i terminskim posteljicama razina ELF5 značajno je veća u usporedbi s odgovarajućim kontrolama. Ovi nalazi potvrđuju ulogu ELF5 u supresiji EMT u patološkim trudnoćama. Naši nalazi podupiru teoriju prema kojoj Wnt ima dinamičnu ulogu u patogenezi IUGR, hipertenzivnih poremećaja i gestacijskog dijabetesa. Također smo utvrdili povezanost ELF5 s poremećajima trudnoće povezanim s neadekvatnom invazijom i diferencijacijom trofoblasta. Možemo zaključiti da poremećaj regulacije mreže signalnih puteva narušava homeostazu u posteljičnom tkivu i vodi do različitih bolesti vezanih uz trudnoću.Differentiation of trophoblast cells is a process that involves an epithelialmesenchymal transition (EMT) in which components of the Wnt signaling pathways play a crucial role. SFRP1 and SFRP3 act as Wnt antagonists, tending to maintain the characteristics of epithelial cells while TCF1 is implicated in trophoblast cell invasion. The aim of this study was to analyse the expression of Wnt signaling pathway antagonists, SFRP1 and SFRP3 proteins, and its positive regulator TCF1 in normal and pathological placentas ( IUGR, hypertensive disorders, gestatonal diabetes). An independent marker of epithelial phenotype ELF5, was chosen to additionally confirm our findings. Immunohistochemical analysis demonstrated elevated levels of SFRP1 and SFRP3 in normal preterm compared to term placentas. Total levels of SFRP1 and SFRP 3 proteins were also increased in all groups of pathological placentas compared to term controls. Interestingly, there was no statistical difference between normal preterm and term IUGR and preeclamptic placentas. Placentas from pregnancies complicated by gestational diabetes showed lower expression of SFRP1 and SFRP3 in chorionic villi and higher total levels of TCF1, demonstrating a more expressed trophoblastic proliferation. Lower levels of SFRP3 were also found in chorionic villi of preterm pathological placentas compared to healthy placentas, while its expression in decidual tissue was similar to SFRP1. These findings suggest the involvement of SFRP3 in cell growth promotion of normal villous tissue and indicate that SFRP3 may play a dual role during placentation. ELF5 expression was lower in healthy preterm than in term placentas, indicating active EMT. Pathological preterm and term placentas showed significantly higher ELF5 levels compared to control groups. These findings establish ELF5 as a suppressor of EMT in pathological pregnancies. Our data support the theory in which Wnt pathway has a dynamic role in the pathogenesis of IUGR, hypertensive disorders and gestational diabetes. We also found significant association of ELF5 with pregnancy disorders which have been related to the regulation of trophoblastic invasion and differentiation. We can conclude that impaired regulation of the Wnt signalling pathways can disrupt tissue homeostasis and lead to different pregnancy-related diseases

Differentiation of human trophoblast cells in normal and pathological pregnancy

Diferencijacija trofoblasta je proces koji uključuje epitelno - mezenhimsku tranziciju (EMT) u kojoj ključnu ulogu igraju akteri signalnog puta Wnt. SFRP1 i SFRP3 su antagonisti Wnt signalnog puta koji nastoje održati epitelne karakteristike stanica dok je protein TCF1 zadužen za invaziju stanica trofoblasta. Cilj ovog istraživanja bio je ispitati izraženost antagonista signalnog puta Wnt, proteina SFRP 1 i SFRP3, u zdravim i patološkim posteljicama (IUGR, hipertenzivni poremećaji, gestacijski dijabetes) kao i izraženost pozitivnog regulatora istog signalnog puta, proteina TCF1. Odabirom nezavisnog biljega epitelnog fenotipa, proteina ELF5, dodatno se potvrdio dobiveni rezultat. Imunohistokemijskim metodama dobili smo jaču izraženost SFRP1 i SFRP3 u normalnim prijevremenim nego u terminskim posteljicama. Ukupna razina SFRP1 i SFRP3 antigena bila je povišena u posteljicama svih patoloških skupina u odnosu na terminske kontrole. Zanimljivo je, da nije bilo statistički značajne razlike između normalnih prijevremenih i terminskih IUGR i preeklamptičnih posteljica. U korionskim resicama posteljica iz trudnoća kompliciranih gestacijskim dijabetesom izraženost SFRP1 i SFRP3 bila je manja, dok je ukupna razina TCF1 bila povišena, što ukazuje na izraženiju proliferaciju trofoblasta. Niža razina proteina SFRP3 nađena je i u korionskim resicama prijevremenih patoloških posteljica u odnosu na zdrave dok mu je izraženost u decidui poput SFRP1. Ovakvi nalazi ukazuju na moguću ulogu SFRP3 u poticanju staničnog rasta u normalnom tkivu resica, odnosno na dvostruku ulogu SFRP3 tijekom placentacije. Ekspresija ELF5 manja je u zdravim prijevremenim nego u terminskim posteljicama što ukazuje na aktivnu EMT. U patološkim prijevremenim i terminskim posteljicama razina ELF5 značajno je veća u usporedbi s odgovarajućim kontrolama. Ovi nalazi potvrđuju ulogu ELF5 u supresiji EMT u patološkim trudnoćama. Naši nalazi podupiru teoriju prema kojoj Wnt ima dinamičnu ulogu u patogenezi IUGR, hipertenzivnih poremećaja i gestacijskog dijabetesa. Također smo utvrdili povezanost ELF5 s poremećajima trudnoće povezanim s neadekvatnom invazijom i diferencijacijom trofoblasta. Možemo zaključiti da poremećaj regulacije mreže signalnih puteva narušava homeostazu u posteljičnom tkivu i vodi do različitih bolesti vezanih uz trudnoću.Differentiation of trophoblast cells is a process that involves an epithelialmesenchymal transition (EMT) in which components of the Wnt signaling pathways play a crucial role. SFRP1 and SFRP3 act as Wnt antagonists, tending to maintain the characteristics of epithelial cells while TCF1 is implicated in trophoblast cell invasion. The aim of this study was to analyse the expression of Wnt signaling pathway antagonists, SFRP1 and SFRP3 proteins, and its positive regulator TCF1 in normal and pathological placentas ( IUGR, hypertensive disorders, gestatonal diabetes). An independent marker of epithelial phenotype ELF5, was chosen to additionally confirm our findings. Immunohistochemical analysis demonstrated elevated levels of SFRP1 and SFRP3 in normal preterm compared to term placentas. Total levels of SFRP1 and SFRP 3 proteins were also increased in all groups of pathological placentas compared to term controls. Interestingly, there was no statistical difference between normal preterm and term IUGR and preeclamptic placentas. Placentas from pregnancies complicated by gestational diabetes showed lower expression of SFRP1 and SFRP3 in chorionic villi and higher total levels of TCF1, demonstrating a more expressed trophoblastic proliferation. Lower levels of SFRP3 were also found in chorionic villi of preterm pathological placentas compared to healthy placentas, while its expression in decidual tissue was similar to SFRP1. These findings suggest the involvement of SFRP3 in cell growth promotion of normal villous tissue and indicate that SFRP3 may play a dual role during placentation. ELF5 expression was lower in healthy preterm than in term placentas, indicating active EMT. Pathological preterm and term placentas showed significantly higher ELF5 levels compared to control groups. These findings establish ELF5 as a suppressor of EMT in pathological pregnancies. Our data support the theory in which Wnt pathway has a dynamic role in the pathogenesis of IUGR, hypertensive disorders and gestational diabetes. We also found significant association of ELF5 with pregnancy disorders which have been related to the regulation of trophoblastic invasion and differentiation. We can conclude that impaired regulation of the Wnt signalling pathways can disrupt tissue homeostasis and lead to different pregnancy-related diseases

Diferencijacija stanica trofoblasta u normalnoj i patološkoj trudnoći [Differentiation of human trophoblast cells in normal and pathological pregnancy]

Differentiation of trophoblast cells is a process that involves an epithelialmesenchymal transition (EMT) in which components of the Wnt signaling pathways play a crucial role. SFRP1 and SFRP3 act as Wnt antagonists, tending to maintain the characteristics of epithelial cells while TCF1 is implicated in trophoblast cell invasion. The aim of this study was to analyse the expression of Wnt signaling pathway antagonists, SFRP1 and SFRP3 proteins, and its positive regulator TCF1 in normal and pathological placentas ( IUGR, hypertensive disorders, gestatonal diabetes). An independent marker of epithelial phenotype ELF5, was chosen to additionally confirm our findings. Immunohistochemical analysis demonstrated elevated levels of SFRP1 and SFRP3 in normal preterm compared to term placentas. Total levels of SFRP1 and SFRP 3 proteins were also increased in all groups of pathological placentas compared to term controls. Interestingly, there was no statistical difference between normal preterm and term IUGR and preeclamptic placentas. Placentas from pregnancies complicated by gestational diabetes showed lower expression of SFRP1 and SFRP3 in chorionic villi and higher total levels of TCF1, demonstrating a more expressed trophoblastic proliferation. Lower levels of SFRP3 were also found in chorionic villi of preterm pathological placentas compared to healthy placentas, while its expression in decidual tissue was similar to SFRP1. These findings suggest the involvement of SFRP3 in cell growth promotion of normal villous tissue and indicate that SFRP3 may play a dual role during placentation. ELF5 expression was lower in healthy preterm than in term placentas, indicating active EMT. Pathological preterm and term placentas showed significantly higher ELF5 levels compared to control groups. These findings establish ELF5 as a suppressor of EMT in pathological pregnancies. Our data support the theory in which Wnt pathway has a dynamic role in the pathogenesis of IUGR, hypertensive disorders and gestational diabetes. We also found significant association of ELF5 with pregnancy disorders which have been related to the regulation of trophoblastic invasion and differentiation. We can conclude that impaired regulation of the Wnt signalling pathways can disrupt tissue homeostasis and lead to different pregnancy-related diseases

SIRENOMELIA AND CAUDAL REGRESSION SYNDROME – THE RARE CONGENITAL ANOMALIES

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.Sirenomelia and caudal regression syndrome present a rare congenital malformation. Although sirenomelia was thought to be severe type of the caudal regression syndrome in the previous years, it is known today that the sirenomelia and the caudal regression syndrome are, in fact, two mutually diverse states. Both states appear during the early embryogenic development of the fetus due to the different pathogenic mechanisms. The sirenomelia is considered to appear due to the vascular steal theory, whereas the caudal regression syndrome appears due to the disorder of the mesoderm differentiation. The sirenomelia and caudal regression syndrome come into existence in the early embryologic development of the fetus during the fourth postconceptional week at the period of gastrulation. The two reported case studies show the distinction between the pathogenesis, as well as the associated anomalies based upon the antenatally diagnosed malformations. The antenatal diagnostics and prognosis are discussed, especially emphasizing the antenatal screening of the malformations which enables the early diagnosis, as well as the indications for the early and less traumatic pregnancy termination

Wilsonova bolest u trudnoći

Wilson’s disease is a rare autosomal recessive disorder of copper metabolism. It causes cirrhosis of the liver, consequently followed by disorder of the menstrual cycle and infertility. Successful decopperizing may lead to restoration of the ovulatory cycle and enable pregnancy. Increased copper levels may cause preeclampsia, intrauterine growth restriction and neurologic damages in the fetus. Pregnant women with decompensated liver cirrhosis face more complications, including bleeding from esophageal varices, liver failure, encephalopathy, and rupture of the splenic artery. We present a case of Wilson’s disease in a patient who had spontaneously conceived three times. The first pregnancy ended with delivery of a healthy baby at term. In second pregnancy, medically induced abortion was performed in the 12th week because of deterioration of the underlying disease, liver cirrhosis with portal hypertension. In the same year, the patient underwent liver transplantation. Two years after the transplantation, the patient spontaneously conceived and delivered vaginally a healthy child.Wilsonova bolest je rijedak autosomno recesivni poremećaj metabolizma bakra. Uzrokuje cirozu jetre te posljedično poremećaj menstruacijskog ciklusa i infertilitet. Uspješna dekuprinizacija može dovesti do ponovne pojave ovulacijskih ciklusa i omogućiti trudnoću. Povećane vrijednosti bakra mogu uzrokovati preeklampsiju, intrauterini zastoj u rastu te neurološka oštećenja ploda. Trudnoća kod trudnica s dekompenziranom cirozom jetre povećava komplikacije kod majke, uključujući krvarenje iz varikoziteta jednjaka, zatajenje jetre, encefalopatije i rupture lijenalne arterije. Prikazuje se bolesnica s Wilsonovom bolešću koja je tri puta spontano zanijela. Prva trudnoća okončana je porodom zdravog djeteta u terminu. Druga trudnoća prekinuta je u 12. tjednu medicinski induciranim pobačajem zbog pogoršanja osnovne bolesti, ciroze jetre s portalnom hipertenzijom. Iste godine u bolesnice je učinjena transplantacija jetre, a dvije godine nakon transplantacije spontano je zanijela i vaginalno rodila zdravo dijete

Prenatal diagnosis and management of pregnancy complicated by a coexisting mole: A case report

Twin pregnancies with a complete hydatidiform mole and a coexisting live fetus are rare. The incidence is estimated to be 1 in 20,000-100,000 pregnancies. Prenatal diagnosis can be made with ultrasound findings, abnormally elevated β-hCG levels, and fetal karyotype. There are various complications following these pregnancies which include hyperemesis gravidarum, vaginal bleeding, spontaneous abortion, pre-eclampsia, intrauterine growth retardation, preterm delivery, and persistent trophoblastic disease. We report an interesting case of twin pregnancy consisting of a complete hydatidiform mole and a normal fetus achieved with in-vitro fertilization in a primary infertile couple. Suspicion of molar pregnancy was made on ultrasound examination, but the couple refused other prenatal testing and wanted to continue the pregnancy. Although the pregnancy was at high risk because of the patient's age and complications associated with a molar pregnancy, a vigorous female baby was delivered at term. The purpose of this report is to present a case of a rare obstetric condition, give evidence that gestational trophoblastic disease is occurring more commonly in multiple gestations and in-vitro fertilization pregnancies, and highlight the importance of ultrasound in prenatal diagnostics and monitoring of high-risk pregnancies