PRENATALNA DIJAGNOZA TRIPLOIDIJE I TURNEROVA SINDROMA ULTRAZVUKOM

Triploidy means that there is a complete extra set of chromosomes in every cell of affected fetus. Instead of having 46 chromosomes, one set of 23 chromosomes from each parent, an individual with triploidy has 69 chromosomes. Triploidy can be detected prenatally by cytogenetic analysis of fetal cells obtained by chorionic villous sampling (CVS) or by amniocentesis. Postnatal diagnosis is based on phenotype of the proband with cytogenetic confirmation by karyotyping. Triploidy is lethal, most fetuses are miscarried, while some die within a few hours or days after birth. Turner syndrome is a form of primary ovarian insufficiency, called also gonadal disgenesis. Both, triploidy and Turner syndrome should be taken into consideration if sonography reveals minor or major abnormalities of the fetus in the first or in the second trimester of pregnancy. Active screening of these conditions is not justified in the general population. In rare occasions, both conditions can be diagnosed prenatally by ultrasound. The aim of this paper is to underline the importance of accurate prenatal ultrasonic diagnosis in everyday professional work, even though the conditions which are searched for are rare and exotic.Triploidija označava postojanje još jednog kompleta kromosoma u svakoj stanici oboljeloga ploda. Umjesto 46 kromosoma odnosno jednog kompleta po 23 kromosoma od svakog roditelja, jedinka s triploidijom ima 69 kromosoma. Triploidija se može otkriti prenatalno citogenetskom analizom stanica ploda dobivenih biopsijom korionskih resica ili amniocentezom. Postnatalna dijagnoza se zasniva na fenotipu probanda uz citogenetsku potvrdu određivanjem kariotipa. Triploidija je letalna, većina se plodova spontano pobaci, dok ostali umiru tijekom prvih nekoliko sati ili dana po rođenju. Turnerov sindrom je oblik primarne insuficijencije jajnika koji se naziva i gonadalna disgeneza. Na postojanje bilo triploidije bilo Turnerova sindroma valja posumnjati ako se ultrazvukom u ploda otkriju male ili velike malformacije tijekom prvoga ili drugog tromjesečja trudnoće. Aktivni probir ovih stanja nije opravdan u općoj populaciji. Rijetko se i jedna i druga bolest mogu dijagnosticirati prenatalno ultrazvukom. Cilj ovoga članka je ukazati na važnost pravilne ¬prenatalne ultrazvučne dijagnoze u svakodnevnom radu čak i u slučajevima kad su bolesti za kojima se traga rijetke i egzotične

PRENATALNA DIJAGNOZA TRIPLOIDIJE I TURNEROVA SINDROMA ULTRAZVUKOM

Triploidy means that there is a complete extra set of chromosomes in every cell of affected fetus. Instead of having 46 chromosomes, one set of 23 chromosomes from each parent, an individual with triploidy has 69 chromosomes. Triploidy can be detected prenatally by cytogenetic analysis of fetal cells obtained by chorionic villous sampling (CVS) or by amniocentesis. Postnatal diagnosis is based on phenotype of the proband with cytogenetic confirmation by karyotyping. Triploidy is lethal, most fetuses are miscarried, while some die within a few hours or days after birth. Turner syndrome is a form of primary ovarian insufficiency, called also gonadal disgenesis. Both, triploidy and Turner syndrome should be taken into consideration if sonography reveals minor or major abnormalities of the fetus in the first or in the second trimester of pregnancy. Active screening of these conditions is not justified in the general population. In rare occasions, both conditions can be diagnosed prenatally by ultrasound. The aim of this paper is to underline the importance of accurate prenatal ultrasonic diagnosis in everyday professional work, even though the conditions which are searched for are rare and exotic.Triploidija označava postojanje još jednog kompleta kromosoma u svakoj stanici oboljeloga ploda. Umjesto 46 kromosoma odnosno jednog kompleta po 23 kromosoma od svakog roditelja, jedinka s triploidijom ima 69 kromosoma. Triploidija se može otkriti prenatalno citogenetskom analizom stanica ploda dobivenih biopsijom korionskih resica ili amniocentezom. Postnatalna dijagnoza se zasniva na fenotipu probanda uz citogenetsku potvrdu određivanjem kariotipa. Triploidija je letalna, većina se plodova spontano pobaci, dok ostali umiru tijekom prvih nekoliko sati ili dana po rođenju. Turnerov sindrom je oblik primarne insuficijencije jajnika koji se naziva i gonadalna disgeneza. Na postojanje bilo triploidije bilo Turnerova sindroma valja posumnjati ako se ultrazvukom u ploda otkriju male ili velike malformacije tijekom prvoga ili drugog tromjesečja trudnoće. Aktivni probir ovih stanja nije opravdan u općoj populaciji. Rijetko se i jedna i druga bolest mogu dijagnosticirati prenatalno ultrazvukom. Cilj ovoga članka je ukazati na važnost pravilne ¬prenatalne ultrazvučne dijagnoze u svakodnevnom radu čak i u slučajevima kad su bolesti za kojima se traga rijetke i egzotične

LEUKEMIJA I TRUDNOĆA. NIJE DALJE ŠTETNA POVEZANOST?

Purpose. Even though there are no solid data regarding chemotherapy treated leukemia during pregnancy, the results based on short series reports show that the management of such condition can be safely achieved during the second and third trimester. We present three personal cases of pregnant women treated with cytostatic agents, two of them accidentally receiving complete chemotherapy during the entire pregnancy without malformative consequences. First case. A 19 yrs old woman diagnosed with chronic myeloid leukemia who conceived spontaneously and mistook the pregnancy signs for a relapse of the disease. During the pregnancy she continued the treatment, receiving until the fifth month an association of Hydroxyurea and alfa-interferon and afterwards switched to Imatinib until term. She presented at 38–39 weeks and delivered by cesarean section a little girl of 3510 g in a perfect state of health. The blood count of both mother and child were normal. Second case. A similar situation in a young woman with lymphoblastic acute leukemia under treatment with Vincristin, Methotrexat, Purinethol. She presented in advanced spontaneous labour at 33–34 weeks and delivered a little girl of 1700 g without malformative signs and normal blood count. Third case. A 17 years old girl who was diagnosed with acute myeloid leukemia at 29 weeks pregnancy. She received induction chemotherapy with Ara-C, due to the significant bone marrow infiltrate and disease induced disseminated intravascular coagulopathy. She presented premature uterine contractions at 32 weeks and delivered by cesarean section a premature boy of 1750g with Apgar score 8. The infant did not present any malformation (by clinical and ultrasound examination) and the blood count was normal. The studies have shown so far that in the case of chronic myeloid leukemia, the treatment with Imatinib was associated with 50% apparently normal live infants and that chemotherapy for acute leukemia during the second or third trimester may not require termination of pregnancy, because both remission and delivery of a normal infant are likely to be obtained.SAŽETAK. Cilj. Uopće nema čvrstih podataka o kemoterapijom liječenim leukemijama tijekom trudnoće. Rezultati na temelju kratkih izvješća pokazuju da liječenje tijekom drugog i trećeg tromjesečja može biti uspješno obavljeno. Prikazujemo tri trudnice liječene citostaticima, dvije od njih su bez posljedičnih malformacija primale kompletnu kemoterapiju tijekom cijele trudnoće. Prvi slučaj. Žena od 19 godina koja je spontano zanijela i krivo shvatila znakove trudnoće kao recidiv bolesti. Tijekom trudnoće je nastavila liječenjem, primivši do petog mjeseca smjesu hidroksiureje i -interferona i zatim do termina imatinib. Javila se s 38–39 tjedana trudnoće te je carskim rezom rodila savršeno zdravu malu djevojčicu težine 3510 grama. Krvna slika majke i djeteta je bila potpuno normalna. Drugi slučaj. Sličan slučaj mlade žene s limfoblastičnom akutnom leukemijom, liječenom vinkristinom, metotreksatom, purinetolom. Javila se u uznapredovalom porodu s 33–34 tjedana te je rodila djevojčicu tešku 1700 grama, bez malformacija i s normalnom krvnom slikom. Treći slučaj. Djevojka od 17 godina kojoj je s 29 tjedana trudnoće dijagnosticirana akutna mijeloična leukemija. Primila je indukcijsku kemoterapiju Ara-C-om, zbog značajne infiltracije koštane srži te bolešću uzrokovane diseminirane intravaskularne koagulopatije. S 32 tjedna počeli su trudovi te je carskim rezom rodila nedonošena dječačića težine 1750 grama s Apgar zbrojem 8. Dijete nije imalo malformacija ni klinički niti ultrazvučnim pregledom. Krvna slika je bila normalna. Do sada su studije pokazale da kronična mijeloična leukemija, liječena imatinibom, u 50% slučajeva rezultira rađanjem zdrava djeteta te da kemoterapija akutne leukemije tijekom drugog i trećeg tromjesečja trudnoće na zahtijeva prekid trudnoće, jer se može postići remisija bolesti i rađanje normalna djeteta

Congenital Abnormalities of the Fetal Heart

Congenital heart defects (CHDs) are the most frequent congenital malformations, the costliest hospital admissions for structural defects and the leading cause of infant general and malformations related mortality. Fetal echocardiography represents a skilled ultrasound examination, because of the complexity, physiological and structural particularities of the fetal heart. The efficiency of the cardiac scan is reported with great variation, depending on the scanning protocol, examiner experience and equipment quality but CHDs remains among the most frequently missed congenital abnormalities

LEUKEMIJA I TRUDNOĆA. NIJE DALJE ŠTETNA POVEZANOST?

Purpose. Even though there are no solid data regarding chemotherapy treated leukemia during pregnancy, the results based on short series reports show that the management of such condition can be safely achieved during the second and third trimester. We present three personal cases of pregnant women treated with cytostatic agents, two of them accidentally receiving complete chemotherapy during the entire pregnancy without malformative consequences. First case. A 19 yrs old woman diagnosed with chronic myeloid leukemia who conceived spontaneously and mistook the pregnancy signs for a relapse of the disease. During the pregnancy she continued the treatment, receiving until the fifth month an association of Hydroxyurea and alfa-interferon and afterwards switched to Imatinib until term. She presented at 38–39 weeks and delivered by cesarean section a little girl of 3510 g in a perfect state of health. The blood count of both mother and child were normal. Second case. A similar situation in a young woman with lymphoblastic acute leukemia under treatment with Vincristin, Methotrexat, Purinethol. She presented in advanced spontaneous labour at 33–34 weeks and delivered a little girl of 1700 g without malformative signs and normal blood count. Third case. A 17 years old girl who was diagnosed with acute myeloid leukemia at 29 weeks pregnancy. She received induction chemotherapy with Ara-C, due to the significant bone marrow infiltrate and disease induced disseminated intravascular coagulopathy. She presented premature uterine contractions at 32 weeks and delivered by cesarean section a premature boy of 1750g with Apgar score 8. The infant did not present any malformation (by clinical and ultrasound examination) and the blood count was normal. The studies have shown so far that in the case of chronic myeloid leukemia, the treatment with Imatinib was associated with 50% apparently normal live infants and that chemotherapy for acute leukemia during the second or third trimester may not require termination of pregnancy, because both remission and delivery of a normal infant are likely to be obtained.SAŽETAK. Cilj. Uopće nema čvrstih podataka o kemoterapijom liječenim leukemijama tijekom trudnoće. Rezultati na temelju kratkih izvješća pokazuju da liječenje tijekom drugog i trećeg tromjesečja može biti uspješno obavljeno. Prikazujemo tri trudnice liječene citostaticima, dvije od njih su bez posljedičnih malformacija primale kompletnu kemoterapiju tijekom cijele trudnoće. Prvi slučaj. Žena od 19 godina koja je spontano zanijela i krivo shvatila znakove trudnoće kao recidiv bolesti. Tijekom trudnoće je nastavila liječenjem, primivši do petog mjeseca smjesu hidroksiureje i -interferona i zatim do termina imatinib. Javila se s 38–39 tjedana trudnoće te je carskim rezom rodila savršeno zdravu malu djevojčicu težine 3510 grama. Krvna slika majke i djeteta je bila potpuno normalna. Drugi slučaj. Sličan slučaj mlade žene s limfoblastičnom akutnom leukemijom, liječenom vinkristinom, metotreksatom, purinetolom. Javila se u uznapredovalom porodu s 33–34 tjedana te je rodila djevojčicu tešku 1700 grama, bez malformacija i s normalnom krvnom slikom. Treći slučaj. Djevojka od 17 godina kojoj je s 29 tjedana trudnoće dijagnosticirana akutna mijeloična leukemija. Primila je indukcijsku kemoterapiju Ara-C-om, zbog značajne infiltracije koštane srži te bolešću uzrokovane diseminirane intravaskularne koagulopatije. S 32 tjedna počeli su trudovi te je carskim rezom rodila nedonošena dječačića težine 1750 grama s Apgar zbrojem 8. Dijete nije imalo malformacija ni klinički niti ultrazvučnim pregledom. Krvna slika je bila normalna. Do sada su studije pokazale da kronična mijeloična leukemija, liječena imatinibom, u 50% slučajeva rezultira rađanjem zdrava djeteta te da kemoterapija akutne leukemije tijekom drugog i trećeg tromjesečja trudnoće na zahtijeva prekid trudnoće, jer se može postići remisija bolesti i rađanje normalna djeteta

Hepatic artery Doppler in trisomy 21 and euploid fetuses at 11-13 weeks

Objective To determine possible differences in hepatic artery flow between trisomy 21 and euploid fetuses at 11-13 weeks' gestation. Methods Hepatic artery pulsatility index (PI) and peak systolic velocity (PSV) were measured in fetuses at low risk of aneuploidies (n = 350) and another group at high risk, including 283 euploid and 47 with trisomy 21. The association of hepatic artery PI and PSV with trisomy 21, fetal nuchal translucency (NT) thickness, tricuspid regurgitation, and reversed a-wave in the ductus venosus was investigated. Results In the low-risk group, the median hepatic artery PSV was 10.0 cm/s and the 95th centile was 14.3 cm/s. The distribution of hepatic artery PI was skewed, but for PI of 2 or more the distribution was Gaussian. In 325 (92.9%) cases, the PI was 2 or more (high PI) and in 25 (7.1%) it was below 2 (low PI). In 33 (70.2%) of the trisomy 21 pregnancies, the PSV was above the 95th centile and the PI was below 2. Multiple regression analysis showed that in the prediction of hepatic artery PSV there were significant contributions from fetal karyotype, tricuspid regurgitation, and reversed a-wave in the ductus venosus, but not delta NT, pregnancy-associated plasma protein-A, or free beta-human chorionic gonadotrophin. Conclusion Trisomy 21 at 11-13 weeks is associated with increased flow in the hepatic artery. Copyright (C) 2011 John Wiley & Sons, Ltd