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Trisomy 9 In Prenatal Diagnosis - Case Report

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EN
Trisomy 9 is a rare chromosomal disorder that often results in significant mortality. We present a case report in a low-risk pregnancy. The prenatal ultrasonography at 12 weeks of gestation showed normal nuchal translucency and the presence of the nasal bone. The anatomy scan performed by an experienced doctor revealed an abnormal four chamber view and abnormal posterior cranial fossa. First trimester biochemical analysis ( free βhCG and PAPP-A) showed high risk for trisomy 18. By amniocenthesis ( at 16 weeks of gestation ) and karyotype evaluation trisomy 9 was diagnosed and at 20 weekstermination was conducted on maternal request.
EN
Attempts to adapt the classifications of pediatric congenital heart defects (CHD) to prenatal cardiology have been lasting for many years. The paediatric cardiology CHD classifications are mainly based on anatomic details and/or pulmonary blood flow and are not always useful in fetal medicine. Because of these reasons and also many more, adaptation attempts of congenital heart defects of children, from pediatric to prenatal cardiology have not brought desired effects.Clinical course in utero and at delivery can now be predicted, and as a consequence, fetal medicine specialists are being asked to consider the fetus as a patient and the transition to postnatal life is an important part of care. The new prenatal classifications of CHD shows new particular group of CHD, requiring emergent procedure after birth. Thanks to organizing special delivery room with special team of specialist we can much more improve the outcome, especially in severest CHD.
EN
Introduction: Numerous papers have proven that an increased nuchal translucency is connected with a raised risk of chromosomal aberrations, but few analyses are related to the further state of fetuses with a normal karyotype. The aim of the study was to estimate the risk of cardiac defects and other developmental disorders in fetuses with increased nuchal translucency and normal findings of a standard cytogenetic examination. Methods: The authors carried out a retrospective analysis of 5183 examinations of 3376 patients who reported to the Department of Diagnosis and Prophylaxis of Congenital Malformations in the Polish Mother’s Memorial Hospital in Łódź in the period from January 2008 to March 2011 for prenatal ultrasound and echocardiographic examinations. The authors analyzed the results of the examinations performed in the second and third trimesters of gestation in fetuses with an increased nuchal translucency of ≥3 mm in the first trimester and with a normal karyotype. Results: Fifty-seven patients (1.7% of the examined group) fulfilled the criteria necessary to be included in the study. In 31 pregnant women (54%) structural defects or anomalies of the fetus were found. Cardiac anomalies were detected in 17 fetuses (29.8%). The authors detected various types of cardiac defects such as tetralogy of Fallot, ventricular septal defect, atrioventricular septal defect, transposition of the great arteries and hypoplastic left heart syndrome. Conclusions: In more than half of the fetuses with an increased nuchal translucency (NT≥3 mm) and a normal karyotype, developmental defects of various organs appeared in the further course of pregnancy: mainly heart defects that were either isolated, or accompanied other anomalies.
PL
Wstęp: Liczne opracowania dowiodły, że poszerzona przezierność karku wiąże się ze zwiększonym ryzykiem aberracji chromosomowych, ale znacznie mniej analiz odnosi się do dalszych losów płodów z prawidłowym kariotypem. Celem pracy było zbadanie ryzyka wystąpienia wad serca i innych wad rozwojowych u płodów z poszerzoną przeziernością karku i prawidłowym wynikiem standardowego badania cytogenetycznego. Metody: Przeanalizowano retrospektywnie 5183 badania przeprowadzone u 3376 pacjentek, które zgłosiły się do Zakładu Diagnostyki i Profilaktyki Wad Wrodzonych Instytutu Centrum Zdrowia Matki Polki w Łodzi w okresie od stycznia 2008 do marca 2011 roku w celu wykonania ultrasonograficznych i echokardiograficznych badań prenatalnych. Przeanalizowano wyniki badań wykonanych w drugim i trzecim trymestrze ciąży u płodów z poszerzoną przeziernością karku ≥3 mm w pierwszym trymestrze ciąży oraz prawidłowym kariotypem. Wyniki: Pięćdziesiąt siedem pacjentek (1,7% analizowanej grupy) spełniło kryteria włączenia do badania. U 31 ciężarnych (54%) stwierdzono wady strukturalne lub anomalie u płodu. Wadę serca rozpoznano u 17 płodów (29,8%). Obserwowano różne wady serca: tetralogię Fallota, ubytek w przegrodzie międzykomorowej, wspólny kanał przedsionkowo-komorowy, przełożenie wielkich naczyń, zespół hipoplazji lewego serca. Wnioski: U ponad połowy płodów z poszerzoną przeziernością karku (NT≥3 mm) i prawidłowym kariotypem w dalszym przebiegu ciąży ujawniały się wady rozwojowe różnych narządów, w tym najczęściej wady serca – izolowane lub towarzyszące innym anomaliom.
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EN
Congenitally corrected transposition of great arteries is a rare congenital heart defect. The clue of the abnormality is the inversion of the ventricles which caused abnormal atrioventricular and ventriculoarterial connections. This defect is seldom identified prenatally, much more seldom than the simple transposition of the great arteries, even though, we can observe it, on the image of 4 chambers of the heart. Prenatal diagnosis of this defect, at the 24th week of pregnancy and during the routine ultrasound scan, is being described below. The echocardiographical features of the congenitally corrected transposition of great arteries are being presented, with reference to the differences in the image of the 4 chamber view.
EN
DORV [double outlet right ventricle] is defined as a defect in which the great vessels leave entirely or mostly from above the morphologically right ventricle. The proposed by us new prenatal classification of heart defects for the DORV defect including the division into isolated and coexisting with extracardiac defect, facilitates consultation and predicting prognosis for the fetus and newborn. Isolated DORV in fetuses is classified as a severe elective defect (expected cardiac intervention or surgery at 1 month of age) with a relatively good prognosis for newborns, regardless of the type of intracardiac anomalies (in our series of cases 100% survival). DORV in the fetus with coexisting extracardiac defects (ECM) regardless of type of anomaly had poor prognosis (in our study group 100% demise rate).
EN
We present a case of a female fetus with large posterior fossa cyst. After detailed diagnosis in referral center revealing normal heart anatomy and no functional abnormalities in cardiovascular system, a trial decompression of the fluid reservoir was suggested to the parents and successfully performed at the 30th week of pregnancy. Neurosurgical treatment was continued in the neonatal period. At the age of 7 months, the child presented normal physical development, and the cranial image of the CNS showed good recovery of the brain.
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71%
EN
This was a retrospective analysis of ultrasonographic and echocardiographic examinations in 12 fetuses with postnatally confirmed Cloacal Malformation. All examinations were conducted at the tertiary fetal diagnostic center (none of the preliminary screening diagnoses were correct). The main manifestations of cloacal malformation were: signs of urinary tract malformations in 10 fetuses (83,33%), pelvic cyst, diagnosed or suspected as hydrocolpos in 9 fetuses (75%), signs of lower part of digestive tract obstruction in 6 fetuses (50%). In addition there were abnormalities in echocardiographic examinations in 6 cases, such as symptoms of cardiac failure (cardiomegaly, tricuspid regurgitation, monophasic inflow, pericardial effusion, ascites) and one case with AS ( aortal stenosis). Functional abnormalities in fetal echocardiography suggest increased preload or afterload and early circulation failure in this severe prenatal malformation. This malformation have never been published before. The data suggest, that fetal functional echocardiography abnormalities in cases of abnormal pelvic structures should alert the clican to possibility of the presence of cloaca.
EN
Introduction: Prenatal diagnosis is an integral part of modern perinatal care. In the article results of questionnaires pertaining to the prenatal process of diagnosis are presented. Parents whose children were afflicted with congenital malformations of all types responded to enquiry Materials and methods: Between March 2014 and March 2015 150 of 355 infants were hospitalized in the Department of Pediatric Intensive Care and Congenital Malformations in Łódź, and 150 had congenital malformations. Results: 101 parents of 150 children (67,3%) have given the feedback. Anomalies were such as: of the digestive system (37%), CHD (25%), OUN (14 %), genito-urinary (13%), skeletal system (9%) and respiratory system (2%). In 65 children of 101 the defects were detected prenatally. The obstetric US exam was the most frequently pointed out as performed (more than 1200). The biochemical markers and genetic tests in were performed in 34 pregnancies. The high percentage of ability to detect malformation was reported in the group of fetal echo examinations. Conclusions: 1. Prenatal ultrasound exams were the least effective method of making appropriate prenatal diagnosis of congenital malformation. 2. Fetal echocardiography had a high level of sensitivity and specificity in detecting congenital malformations. 3. Prenatal cardiologists proved to be the most effective in detecting congenital malformations 89,3 % of detected abnormalities. 4. Biochemical exams had a positive result in only one case of Down Syndrome.
EN
Material and Methods: A retrospective analysis of 41 patients with congenital heart defect IAA from ICZMP in Lodz in the years 2003-2012, including 15 (36.6%) after prenatal diagnosis. Results: An average of 4 newborns with IAA were operated annually, in the years 2003 -2009 postnatal diagnosis dominated, from 2010 prenatal diagnosis. In the group, n = 15 fetuses with IAA, heart size was normal: Avg 0.33 + / -0.05 HA / CA. Cardiovascular endurance in the CVPS : 8 - 10 points Avg. 9.56 + / -0.73. Infants in the "prenatal" group were often delivered by CS (64.3%), and infants diagnosed postnatally, often by spontaneous delivery (76.9%). In the prenatal group 100% of newborns received prostaglandin E1 from day one, and the "postnatal" group at an average of 6th day. In the "prenatal" group the dose of PGE: 0.02 ug / kg / min, in the "postnatal" group the average dose was> 2 x higher 0,042 mg / kg / min. A statistically significant relationship was shown: between the day of administering prostaglandin E1 and the number of postoperative recovery hospitalization days of the newborn with IAA. Di George Syndrome occurred in 40% in the "prenatal" and in 15.4% in the "postnatal" group. Cardiac operations in the "prenatal" group were performed at average 19th day, and at average 21st day in the "postnatal" group. Infants in the "prenatal" group remained in the postoperative recovery room an average of 7.85 + / -3.98 days, and those from the “postnatal” group an average of 8.38 + / -3.94 days (p = 0.6212). There were 3 deaths (7.3%): 1 patient diagnosed prenatally and 2 postnatally. Neonates with IAA in the "prenatal" group remained in the hospital on average: 43.69 + / - 4.82 days and 39.54 + / -3.75 days in the "postnatal" group. After cardiac surgery, hospitalization in the "prenatal" group amounted to an average of 25.2 days in the "postnatal" 26.7 days. Conclusions: 1. The prenatal diagnosis of IAA was grounds to start the administration of prostaglandin E1 on the first day of life, and in the "postnatal" group the administration of prostaglandin followed on average 6 days after birth, the "postnatal" dose was 2 x higher. 2. A statistically significant correlation was demonstrated between the day of prostaglandin E1 commencement and the number of hospitalization days of the newborn with IAA in the postoperative recovery room, the length of hospital stay in the ICU and sometimes full hospitalization.
EN
As in every year since 2004, we analyzed data from the Polish National Registry for Fetal Cardiac Pathology to follow actual trends in types of congenital heart disease (CHD) and to assess the development of prenatal cardiology in Poland. Overall, the most frequent cardiac malformation detected prenatally in 2013 -2014, similar to the previous years, was hypoplastic left heart syndrome (HLHS). The average age of the examined fetuses was unchanged and remained above 20 weeks of gestation. An increased trend of detecting other cardiac malformations, such as transposition of the great arteries (d-TGA) and aortic stenosis (AS), and the predominance of vaginal deliveries over cesarean deliveries suggested significant improvements in prenatal and perinatal care in Poland.
EN
Most heart defects form between 4 and 6 weeks after fertilization. The detection rate is still growing. Despite significant progress in prenatal diagnosis some cases still go undetected. We present two cases of similar defects: prenatally detected and undetected, both presenting with a normal four chamber view in mid-pregnancy. We compared the follow-up of both neonates along with sustained health and economic consequences. The dynamics of the development of heart defects during prenatal life suggests the legitimacy to perform additional, late echocardiography exams (35-38 weeks of gestation)
EN
In this report a case of aortopulmonary window (APW) diagnosed at 26 hbd is presented. APW supported the pulmonary circulation in neonate afflicted with pulmonary stenosis. To our knowledge, this is the first report in the literature referring to observing their coincidence in fetal life.
EN
From 2012-2014 we selected fetuses who had an isolated congenital heart defect and restriction of the foramen ovale defined as its diameter of 4 mm or less, shunt across foramen ovale, V max > 70 cm/sec along with a typical harsh sound during fetal ausculation during echocardiography and reversal flow in pulmonary veins, no extracardiac anomalies, singleton pregnancies and delivery > 37 weeks of gestation. It was retrospective analysis of 16 cases: There were 10 non-survivors and 6 survivors The only significant difference between survivors and non-survivors pertained to the fraction of newborns operated on up to 11th day, which was significantly higher among the survivors (5/6 vs. 2/8, p=0.031). Conclusions: 1) In the event of prenatal restriction of the foramen ovale early surgery by day 10 had a statistically better outcome in terms of survival compared to cases that underwent surgery at a later period at our Institute. 2) Prenatal restriction of the foramen ovale was more often related to male gender and in 75% of cases in our series had complicated follow-up: neonatal death or prolonged hospital stay.3) Information from prenatal echocardiography regarding restriction of the foramen ovale should be taken into consideration as valuable information suggesting priority for early cardiac surgery.
EN
The primary aim of this study was to determine the predictive value of prenatal ultrasound and echocardiography for prognosis in congenital heart disease (CHD) with coexisting diaphragmatic hernia (DH) in a tertiary care center. Eleven records from the database of the Department for Diagnoses and Prevention of Congenital Malformations, Polish Mother’s Memorial Hospital Research Institute, were reviewed. The mean maternal age was 29,2 ± 5,1 years, and the mean gestational age at the time of diagnosis was 28,4 ± 6,7 weeks. No information was available for children discharged from hospital. Data of eight cases of prenatal DH and complex heart disease from the literature were also analyzed. Three fetuses survived the neonatal period. In each of these, CHD was other than the urgent or critical type, defined as not requiring cardiac surgical intervention in the first day or month of life. Both sets of data collected from our center and the published literature confirmed the unfavorable prognosis for fetuses with severe or critical CHD with coexisting DH.
EN
Introduction: It was retrospective analysis of prenatal echocardiography findings in fetuses with congenital heart defects, who died in our institution and had an autopsy exams in years 2010 - 2015. Material and methods: Among total 115 deaths the pulmonary hypertension based on histopathology criteria was present in 83 cases (72%) as a leading cause of their deaths. Out of 83 neonates 40 underwent prenatal echo, 43 did not, however in both groups there were similar types of heart defects. Results: The prenatal echo findings from study group (n=40), from the last echo before the delivery were compared with control group and group of HLHS who did survive neonatal surgery and were discharged from hospital. There were statistical differences between pulmonary artery/aorta ratio in fetuses in control group and fetuses in study group („pulmonary hypertension” after birth) (p=0,044). There were statistical differences between pre-delivery pulmonary artery/aorta ratio in fetuses in study group (with „pulmonary hypertension” after birth) and in group of fetuses with HLHS, alive & well after first surgery (p=0,027). There were no differences between pulmonary artery/ aorta ratio fetuses in control group and fetuses with HLHS, alive & well after first surgery (p=0,38) Conclusion: 1) Pulmonary hypertension was a frequent cause of neonatal deaths among our series of congenital heart defects 2) Dilatation of pulmonary artery (and increased pulmonary/artery ratio ) in fetal echo just before delivery may be an important risk factor for poor neonatal outcome in congenital heart defects.)
EN
Pulmonary valve stenosis is a congenital heart defect that is possible to detect and diagnose during prenatal life. We present a retrospective analysis of ten cases with isolated critical pulmonary valve stenosis (IPVS) to establish echocardiographic criteria which could predict the possibility for postnatal balloon valvuloplasty performed shortly after delivery.
EN
Prenatal cardiologists for councelling, most often are using both terminology and data from pediatric cardiology, which is a population of different age. As there is lack in polish literature data about pulmonary stenosis in prenatal population, we retrospectively evaluated our data from National Registry of Cardiac Problems in Fetuses.
EN
The first recommendations and guidelines for physicians training in fetal echocardiography (FE) were created in 1990 and later on up-dated by multiple medical associations and journals in Europe and the United States. This time advanced fetal cardiac ultrasound recommendations focused more on the organizational and logistical aspects of FE, to better define the fetal echo guidelines for practitioners in tertiary centers. Underlined is FE in 3rd trimester, with special attention to the direction of flow across the foramen ovale and ductus arteriosus. AHA classification of heart defects in prenatal cardiology into seven major groups (from 2014) is presented as well as the Polish classification into four groups (from 2012) related to the urgency of required time to postnatal treatment/intervention based on FE findings in the 3rd trimester of pregnancy. Current definition of fetal cardiologist in 2015 is also presented.
EN
Congenital heart defects are among the most common congenital defects and contribute substantially to the mortality of newborns and young infants, in spite of well-developed medical and surgical treatments. It is estimated that the mortality of children with congenital heart defects in developing countries is as high as 20%, whereas the incidence of congenital heart defects is approximately 1/100 live births(1). Currently, there is an emphasis on early fetal screening for chromosomal abnormalities and neural tube defects, despite the fact that congenital heart defects are four times more frequent than chromosomal abnormalities and six times more frequent than neural tube defects(2). It should be noted that basic in-utero screening for heart defects is possible as early as the first trimester, which in some cases prompts further work-up and treatment(3). Throughout the world, second trimester screening remains the mainstay of prenatal diagnosis of cardiac anomalies. However, a comprehensive work-up for fetal heart defects can be associated with substantial psychological burden on the mother and her family. Moreover, the prevalence of misdiagnosis can be as high as 36%, thus prompting the need for further training and multidisciplinary team work(4). Furthermore, 33% of heart defects are accompanied by other anomalies(5).
PL
Wrodzone wady serca należą do najczęstszych wad wrodzonych i mimo rozwiniętego leczenia zachowawczego, jak i operacyjnego w dalszym ciągu stanowią jedną z najczęstszych przyczyn zgonów w okresie noworodkowym i wczesnoniemowlęcym. Szacunkowo określa się, że śmiertelność może dotykać około 20% dzieci z wrodzonymi wadami serca w krajach rozwijających się, a każdego roku częstość wrodzonych wad serca oscyluje w granicach 1/100 żywych urodzeń(1). Obecnie uwaga jest kierowana głównie w stronę wczesnej diagnostyki genetycznej, tymczasem wrodzone wady serca są aż 6 razy częstsze od wad chromosomalnych i 4 razy częstsze od wad cewy nerwowej(2). Podstawowa diagnostyka kardiologiczna u płodu jest możliwa już w I trymestrze ciąży i w wybranych przypadkach klinicznych przyczynia się do dalszego postępowania diagnostycznego i terapeutycznego(3). Mimo to w dalszym ciągu podstawowe pozostaje badanie serca płodu w II trymestrze. Kompleksowa diagnoza kardiologiczna płodu niesie ze sobą duże obciążenie psychiczne dla ciężarnej i jej rodziny. Wynika z tego konieczność dalszego szkolenia oraz pracy wielodyscyplinarnej, gdyż – jak pokazują dane z piśmiennictwa – odsetek prenatalnie nieprawidłowo postawionych diagnoz może sięgać nawet 36%(4), a aż 33% wad serca nie jest wadą izolowaną(5).
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