Barbara Pete

Associated malformations in congenital diaphragmatic hernia cases in the last 15 years in a tertiary referral institute

This is a review of cases of perinatally diagnosed congenital diaphragmatic hernia (CDH) with associated malformations with regard to time of diagnosis, side of hernia, associated malformations, and outcome. The authors analyzed the data of CDH cases with associated malformations from records of the I. Department of Obstetrics and Gynecology, Semmelweis University Faculty of Medicine, Budapest, between July 1, 1990 and June 30, 2005. The observed period was analyzed in two parts. The pre‐ and postnatal examinations verified CDH in 100 cases, 71% of which were associated with other malformations. In 52% (37/71) CDH was diagnosed before the 24th week of gestation. The rate of early diagnosed cases doubled in the second period. Ten percent (7/71) of cases were verified postnatally. Between 1990 and 1997, the percentage of right‐sided hernia was 6% (2/34) while in the second period it was 19% (7/37). The association with cardiovascular, chest, and craniofacial anomalies doubled in the second period, while association of central nervous system anomalies halved. Chromosome anomalies were verified in four cases. Pregnancy was terminated in 53% (34/64) and 13% (4/30) of newborn infants survived the perinatal period. Intrauterine or intrapartum death occurred in 8% (5/64) of cases. The prevalence of cardiovascular, pulmonary, and craniofacial anomalies doubled, while that of central nervous system malformations decreased. The prevalence of other associated malformations has not changed significantly between the two periods. The improvement of technical facilities and accumulated experience make it possible to identify a higher number of associated malformations before the 24th week of gestation.

Correlation of Prenatal Sonographic Diagnosis and Morphologic Findings of Fetal Autopsy in Fetuses With Trisomy 21

The purpose of this study was to compare the prenatal sonographic and postmortem pathologic findings of fetuses with trisomy 21.

Prenatal diagnosis of abnormal course of umbilical vein and absent ductus venosus--report of three cases.

An abnormal course of the umbilical vein is a rare anomaly. Its association with the congenital absence of the ductus venosus is common. We found 3 cases of an abnormal course of the umbilical vein and an absent ductus venosus. In 2 of these cases, the umbilical vein turned down and continued in the internal iliac vein, and no ductus venosus was found. One of these pregnancies was terminated. From the continued pregnancy a growth-retarded baby was born. At follow-up examinations, mild microcephaly, mildly elevated levels of ammonia, delayed speech and mild muscular hypotonia were found. In the third case, the umbilical vein turned up from the level of umbilical ring and the anterior of the liver above the diaphragma and connected directly into the right atrium. Associated complex congenital heart malformations – transposition of the great arteries, and ventricular septal defect – were diagnosed prenatally. In the umbilical vein from the placenta to the umbilical ring, the flow was low velocity continuous; from the umbilical ring to the right atrium, the flow was biphasic high velocity (90 cm/s). Such an elevated blood flow could be a sign of increased cardiac preload. The long-term neurological follow-up of babies with prenatally diagnosed venous malformations is necessary.

Congenital Heart Diseases in Twin Pregnancies

Objective: To find connection between the type of congenital heart malformations and twin pregnancies. Method: Retrospective analysis of data of fetal cardiology database between 1 January 1996 and 30 November 2003. Results: In single pregnancies 455 and in twin pregnancies 31 severe congenital heart malformations were diagnosed prenatally. In monozygotic twin pregnancies 36% of heart malformations were pulmonary stenosis and 45% endocardial fibroelastosis, which is significantly higher than in single pregnancies. In dizygotic twin pregnancies Ebstein malformation was significantly more frequent than in single pregnancies. With the exception of Ebstein malformation in dichorionic and dizygotic twin pregnancies the cardiac malformations were similar to the ones in single pregnancies. Conclusions: The twin pregnancy alone can be considered as indication for fetal echocardiography. The type of congenital heart malformations detected in monochorial twin pregnancies was different from those found in single, dizygotic or dichorionic twin pregnancies. Chorionicity seems to be more important than zygosity.

Experiences in the Perinatal Management of Congenital Diaphragmatic Hernia during the Last 15 Years in a Tertiary Referral Institute

Objective: Review of cases of perinatally diagnosed congenital diaphragmatic hernias with special regard to time of diagnosis, organs herniated into the thorax, associated malformations, and outcomes. Methods: We analyzed the data of 106 cases between July 1, 1990, and June 30, 2005. The observation period was analyzed in two parts. Results: Prenatal ultrasound was performed in 89.6% (95/106) of the cases. 51.7% (46/89) of the pre- and postnatally verified congenital diaphragmatic hernia cases were diagnosed before the 24th week of gestation. 11% (11/100) of the hernias were identified postnatally. 71% (71/100) of the cases were associated with other malformations. The hernia was on the left side in 86% (86/100) and bilateral in 5% (5/100) of the cases. Between 1990 and 1997, the proportion of right-sided hernias was 4.3% (2/46), while during the second period it was 13% (7/54). 27.5% (14/51) of the newborns survived the perinatal period. The survival rate of the newborns delivered by caesarean section was three times higher than that of infants delivered vaginally. In the latter group, the rate of premature deliveries was considerably higher. The pregnancy was terminated in 45% (40/89) of the cases. 15% (6/40) of the terminated cases were isolated. Intrauterine or intrapartum deaths occurred in 5.6% (5/89) of the prenatally diagnosed cases. Simultaneous thoracic herniation of liver, spleen, or stomach decreased the survival rate. In these cases, the discharge rate was between 6 and 22%. Conclusions: According to the analysis of 15-year data, the herniated organs, multiple malformations, as well as the mode of delivery influence the survival in a large number of cases. Early diagnosis predicts a large hernia, a higher malformation rate, and a less favourable prognosis.

Efficacy of prenatal ultrasonography in diagnosing urogenital developmental anomalies in newborns.

BackgroundShowing a prevalence rate of 0.5-0.8%, urogenital malformations discovered in newborns is regarded relatively common. The aim of this study is to examine the efficacy of ultrasound diagnostics in detecting developmental disorders in the urogenital system.MethodsWe have processed the prenatal sonographic and postnatal clinical details of 175 urogenital abnormalities in 140 newborns delivered with urogenital malformation according to EUROCAT recommendations over a 5-year period between 2006 and 2010. The patients were divided into three groups; Group 1: prenatal sonography and postnatal examinations yielded fully identical results. Group 2: postnatally detected urogenital changes were partially discovered in prenatal investigations. Group 3: prenatal sonography failed to detect the urogenital malformation identified in postnatal examinations. Urogenital changes representing part of certain multiple disorders associated with chromosomal aberration were investigated separately.ResultsPrenatal sonographic diagnosis and postnatal results completely coincided in 45%, i.e. 63/140 of cases in newborns delivered with urogenital developmental disorders. In 34/140 cases (24%), discovery was partial, while in 43/140 patients (31%), no urogenital malformation was detected prenatally. No associated malformations were observed in 108 cases, in 57 of which (53%), the results of prenatal ultrasonography and postnatal examinations showed complete coincidence. Prenatally, urogenital changes were found in 11 patients (10%), whereas no urogenital disorders were diagnosed in 40 cases (37%) by investigations prior to birth. Urogenital disorders were found to represent part of multiple malformations in a total of 28 cases as follows: prenatal diagnosis of urogenital malformation and the findings of postnatal examinations completely coincided in three patients (11%), partial coincidence was found in 22 newborns (79%) and in another three patients (11%), the disorder was not detected prenatally. In four newborns, chromosomal aberration was associated with the urogenital disorder; 45,X karyotype was detected in two patients, trisomy 9 and trisomy 18 were found in one case each.ConclusionIn approximately half of the cases, postnatally diagnosed abnormalities coincided with the prenatally discovered fetal urogenital developmental disorders. The results have confirmed that ultrasonography plays an important role in diagnosing urogenital malformations but it fails to detect all of the urogenital developmental abnormalities.

Az arteria pulmonalis billentyûjének agenesiája - tíz, praenatálisan diagnosztizált eset elemzése és irodalmi áttekintés

Celkitűzes: Tiz, praenatalisan diagnosztizalt pulmonalis billentyűagenesia eseteben a tarsulo cardialis, extracardialis es kromoszoma-rendellenessegek, valamint a terhesseg kimenetelenek elemzese alapjan a diagnosztikus es prognosztikus tenyezők azonositasa. Beteganyag es modszer: A Semmelweis Egyetem Altalanos Orvostudomanyi Kar I. sz. Szuleszeti es Nőgyogyaszati Klinika Magzati Echokardiografias Laboratoriumaban 1993. januar 1. es 2005. december 31. kozott praenatalisan felismert pulmonalis billentyűagenesia-esetek adatainak retrospektiv elemzese. A diagnozis ellenőrzese fetopatologiai, patologiai, illetve postnatalis ultrahangvizsgalattal tortent. Vizsgaltak a terhessegi kort a praenatalis diagnozis idejen, a magzati echokardiografia indikaciojat, a tarsulo cardialis, extracardialis es kromoszoma-rendellenessegek előfordulasat. Eredmenyek: A pulmonalis billentyű agenesiajanak diagnozisat praenatalisan tiz esetben allapitottak meg. A terhesseg kora a diagnozis felallitasanak idejen atlagosan 23,1 het (1...

[Holt-Oram syndrome: genetic counseling and diagnosis with prenatal ultrasonography].

A szerzők az 1976 es 2005 kozotti időszakban, az intezetuk genetikai tanacsadasan előfordulo autoszomalis dominansan oroklődő Holt–Oram-szindromas esetekről szamolnak be. Első beteguk, egy Holt–Oram-szindromas ferfi a betegseg 50%-os atorokitesi eselyet tul magasnak itelve, lemondott a gyermeknemzesről. Ket, Holt–Oram-szindromaban szenvedő nő terhessegeben tortent magzati ultrahangvizsgalat es echokardiografia. Az egyik esetben kizartak a betegseg lehetőseget, a masik esetben diagnosztizaltak a magzat Holt–Oram-szindromajat. Ezenkivul ket, genetikai szempontbol nem terhelt nő magzataban ismertek fel a Holt–Oram-szindromat praenatalisan a masodik trimeszterben. Az egyik esetben a sziv- es vegtagfejlődesi rendellenessegek olyan sulyosak voltak, hogy a hazaspar a terhesseg megszakitasahoz folyamodott. A vetelesindukciot kovető fetopatologiai vizsgalat megerősitette a praenatalis diagnozist.

Az 500 gramm alatti születési súlyú koraszülöttek túlélésének változása klinikánkon@@@Changes in the outcome of extremely low birth weight infants less than 500 grams in the First Department of Obstetrics and Gynecology, Semmelweis University

Bevezetes: Az extrem kis sulyuak (szuletesi suly 1000 gramm alatt) eletkilatasai es morbiditasi tenyezői rosszabbak, mint az igen kis sulyu vagy erett ujszulottek hasonlo mutatoi. A Centers for Disease Control 2013-ban megjelent, 2009-re vonatkozo adatai szerint az 500 gramm alatti szuletesi sulyu koraszulottek mortalitasa az Egyesult Allamokban 83,4% volt. Az esetek tobbsegeben tuleles eseten is sulyos szovődmenyekre lehet szamitani. Celkitűzes: A retrospektiv vizsgalat arra iranyult, hogy az 500 gramm alatti szuletesi sulyu koraszulottek mortalitasaban bekovetkezett valtozasok okait keressek. Modszer: A 2006. januar 1. es 2012. junius 1. kozott a Semmelweis Egyetem, I. Sz. Szuleszeti es Nőgyogyaszati Klinikan szuletett 48 extrem kis sulyu ujszulott tulelesi es morbiditasi adatait vizsgaltak. Az ujszulotteket ket csoportra osztottak: 2009. januar 1. előtt es 2009. januar 1. utan szuletettek csoportjara. A statisztikai analizist a t-, F- es χ2-proba segitsegevel vegeztek. Eredmenyek: Szignifikans kulonbse...INTRODUCTION The mortality and morbidity of extremely low birth weight infants (birth weight below 1000 grams) are different from low birth weight and term infants. The Centers for Disease Control statistics from the year 2009 shows that the mortality of preterm infants with a birth weight less than 500 grams is 83.4% in the United States. In many cases, serious complications can be expected in survivals. AIM The aim of this retrospective study was to find prognostic factors which may improve the survival of the group of extremely low birth weight infants (<500 grams). METHOD Data of extremely low birth weight infants with less than 500 grams born at the 1st Department of Obstetrics and Gynecology, Semmelweis University between January 1, 2006 and June 1, 2012 were analysed, and mortality and morbidity of infants between January 1, 2006 and December 31, 2008 (period I) were compared those found between January 1, 2009 and June 1, 2012 (period II). Statistical analysis was performed with probe-t, -F and -Chi-square. RESULTS Survival rate of extremely low birth weight infants less than 500 grams in period 1 and II was 26.31% and 55.17%, respectively (p = 0.048), whereas the prevalence of complications were not significantly different between the period examined. The mean gestational age of survived infants (25.57 weeks) was higher than the gestational age of infants who did not survive (24.18 weeks) and the difference was statistically significant (p = 0.0045). CONCLUSIONS Education of the team of the Neonatal Intensive Care Unit, professional routine and technical conditions may improve the survival chance of preterm infants. The use of treatment protocols, conditions of the Neonatal Intensive Care Unit and steroid prophylaxis may improve the survival rate of extremely low birth weight infants.

Az 500 gramm alatti születési súlyú koraszülöttek túlélésének változása klinikánkon

Bevezetes: Az extrem kis sulyuak (szuletesi suly 1000 gramm alatt) eletkilatasai es morbiditasi tenyezői rosszabbak, mint az igen kis sulyu vagy erett ujszulottek hasonlo mutatoi. A Centers for Disease Control 2013-ban megjelent, 2009-re vonatkozo adatai szerint az 500 gramm alatti szuletesi sulyu koraszulottek mortalitasa az Egyesult Allamokban 83,4% volt. Az esetek tobbsegeben tuleles eseten is sulyos szovődmenyekre lehet szamitani. Celkitűzes: A retrospektiv vizsgalat arra iranyult, hogy az 500 gramm alatti szuletesi sulyu koraszulottek mortalitasaban bekovetkezett valtozasok okait keressek. Modszer: A 2006. januar 1. es 2012. junius 1. kozott a Semmelweis Egyetem, I. Sz. Szuleszeti es Nőgyogyaszati Klinikan szuletett 48 extrem kis sulyu ujszulott tulelesi es morbiditasi adatait vizsgaltak. Az ujszulotteket ket csoportra osztottak: 2009. januar 1. előtt es 2009. januar 1. utan szuletettek csoportjara. A statisztikai analizist a t-, F- es χ2-proba segitsegevel vegeztek. Eredmenyek: Szignifikans kulonbse...INTRODUCTION The mortality and morbidity of extremely low birth weight infants (birth weight below 1000 grams) are different from low birth weight and term infants. The Centers for Disease Control statistics from the year 2009 shows that the mortality of preterm infants with a birth weight less than 500 grams is 83.4% in the United States. In many cases, serious complications can be expected in survivals. AIM The aim of this retrospective study was to find prognostic factors which may improve the survival of the group of extremely low birth weight infants (<500 grams). METHOD Data of extremely low birth weight infants with less than 500 grams born at the 1st Department of Obstetrics and Gynecology, Semmelweis University between January 1, 2006 and June 1, 2012 were analysed, and mortality and morbidity of infants between January 1, 2006 and December 31, 2008 (period I) were compared those found between January 1, 2009 and June 1, 2012 (period II). Statistical analysis was performed with probe-t, -F and -Chi-square. RESULTS Survival rate of extremely low birth weight infants less than 500 grams in period 1 and II was 26.31% and 55.17%, respectively (p = 0.048), whereas the prevalence of complications were not significantly different between the period examined. The mean gestational age of survived infants (25.57 weeks) was higher than the gestational age of infants who did not survive (24.18 weeks) and the difference was statistically significant (p = 0.0045). CONCLUSIONS Education of the team of the Neonatal Intensive Care Unit, professional routine and technical conditions may improve the survival chance of preterm infants. The use of treatment protocols, conditions of the Neonatal Intensive Care Unit and steroid prophylaxis may improve the survival rate of extremely low birth weight infants.