The incidence of twin gestation has increased over the past decades and contributes to an increased rate of spontaneous preterm birth and increased mortality and morbidity up to adult age. Prevention of spontaneous preterm birth in twin pregnancies differs from interventions in singleton pregnancies.
Up to now, many treatment modalities have been investigated such as bed rest, tocolytics, antibiotics, cerclage or progestagens, but have failed to prevent prematurity rates in twin gestations or were even combined with harmful effects. Cervical pessaries might be a non-invasive cost-effective option, but it is mandatory to evaluate vaginal progesterone and cervical pessaries in twin gestations with a short cervix in further randomized trials.
Shunt implantation in utero being a life-saving procedure, may be connected with a wide range of complications. One of them is catheter dislocation, a side effect which may impair the state of the fetus and child. We present a case of a boy with Congenital Adenomatoid Lung Malformation (CALM) type II. Invasive prenatal therapy, complicated by shunt migration did not influence our patient’s health. Moreover, the abnormally located shunt stayed within the child’s chest up to the age of 6 years. No symptoms linked to foreign body presence were observed. Although similar cases were published, we report a situation, in which the catheter was left in the patient’s body for 6 years, for the first time.
Interrupted aortic arch is a rare and very difficult to diagnose congenital heart defect, which is divided into three types according to the place of interruption. The most common is type B, where the interruption is between the left carotid artery and left subclavian artery. This case report shows the description of the anomaly during the first and second trimester scan and review of the literature regarding interrupted aortic arch.
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.
Double anueploidy, involving both trisomy 18 and Klinefelter syndrome at the same time, is a rare event, in which the features of Edwards syndrome dominate the clinical picture. We describe a patient, who was diagnosed in the 8th gestational week with a seemingly normal intrauterine pregnancy with “chorionic bump”. In the 12th week the following abnormalities were diagnosed by ultrasound: Increased nuchal translucency (4.7 mm), increased anteroposterior diameter of the fourth ventricle and increased diameter of the third ventricle of the brain, mesocardia and cardiomegaly. The CVS karyotype revealed 48,XXY,+18 karyotype. In our opinion, the increased anteroposterior diameter of the fourth ventricle of the brain in this fetus was probably an early manifestation of the Dandy-Walker malformation (unproven because of early pregnancy termination), which is typical of Edwards syndrome fetuses. We consider the increased anteroposterior diameter of the fourth ventricle of the brain in the first trimester fetus as an indication for fetal karyotyping and further detailed imaging studies.
Obstruction of the duodenum is the most common intestinal obstruction of the fetus and newborn. A typical symptom of duodenal atresia is the double bubble sign. However, in order to diagnose annular pancreas, it is also required to locate a hyperechogenic band around the double bubble. We analysed the possibility of prenatal differential diagnosis of intestinal atresia, such as duodenal atresia and annular pancreas based on the analysis of two cases examined in the 26th week of pregnancy. This material was analysed by two ultrasonographers (one pediatric surgeon).
Conclusions: "Double bubble" symptom in prenatal sonography is typical of high level intestinal obstruction, but it can occur both in classical duodenal atresia, and in the cases of annular pancreas, and in other rare anomalies. Classic prenatal ultrasound examination using 2D option seems to be insufficient for accurate differential diagnosis.
Introduction: The majority of research regarding echogenic intracardiac focus (EIF) concentrates on its weak correlation with the occurrence of Down syndrome. The aim of our research was to approach this problem from a wider perspective and to find out, if the prenatal diagnosis of EIF is connected with the occurrence of other abnormalities of prenatal and postnatal period.
Materials & Methods: The data of 114 patients with prenatally diagnosed EIF were analyzed retrospectively. No fetal or neonatal chromosomal abnormalities were included.
Results: In 13/114 (11,4%) fetuses cardiological abnormalities other then EIF were diagnosed: 8/114 (7%) cases of congenital heart defects and 7/114 (6,1%) cases of tricuspid valve regurgitation. Extracardiac malformations were diagnosed in 11/114 (8,8%) of fetuses. In 7/114 (6,1%) of the cases the abnormal volume of amniotic fluid was diagnosed. In 4/114 (3,5%) of pregnancies the premature rapture of membranes (PROM) occurred. Six, 6/114 (5,3%) of pregnancies were at risk of intrauterine asphyxia in perinatal period. 12/114 (10,5%) newborns were delivered before 37th week of gestation, stillbirth occurred in 1/114 (0,9%) case. Most newborns (86/114; 75,4%) birth weight >3000g. In 19/114 (16,7%) of newborns birth weight was 2500g-3000g. In 9/114 (7,9%) of newborns birth weight was <2500g
Conclusions: Fetuses with EIF without chromosomal aberrations may present heart defects which are hard to diagnose in basic obstetrical USG scan. Therefore, those patients should be directed to prenatal cardiology facilities for evaluation of the fetal heart.
Prenatal EIF in fetuses without chromosomal aberrations may indicate low birth weight (<2500g) in the future. Further research of this matter is needed.
This is review of the literature regarding fetal thymus development, its role in immune system, research regarding prenatal thymus evaluation in fetal congenital heart defects, abnormal karyotypes, intrauterine growth restriction. The methods of fetal type measurements both in singelton and multiple pregnancies are discussed and presented.
The paper presents a description of the development of the human heart based on the present state of knowledge cytogenetics and molecular genetics. Despite the complexity of the genetic mechanisms described, the authors emphasize that it may be just a slice patterns in kardiogenezie. Aberrations and mutations lead to the formation of congenital heart defects in both isolated and components of genetic syndromes.
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.