Ectopia Cordis, also known as exocardia and ectocardia, is a rare and severe congenital heart defect. There are four types of Ectopia Cordis disease: thoracic (60%), abdominal (10%) cervical (5%) and thoracoabdominal (20%). Thoracic and thoracoabdominal are the two most common forms of this disease. Thoracic Ectopia Cordis is a rare congenital heart abnormality with the heart partly or completely placed outside of the thoracic cavity. It is not protected by the sternum or skin and in some cases, the other organs form outside the body as well, usually the kidney's, liver and spleen. The second most common type of Ectopia Cordis is Thoracoabdominal, which is frequently associated with another rare congenital anomaly known as Cantrell’s syndrome. Cantrell's syndrome is the loss of …show more content…
Other signs and symptoms, along with the position of the heart is cleft palate, spinal defects, and pulmonary atresia, and a “C” curvature of the thoracic spine (kyphosis) The condition has an incidence 1 in 100,000, with a 2∶1 male dominance and a prevalence of 5.5–7.9 per 1 million live births, and stillbirths result in one- third total cases. Ectopia Cordis can be diagnosed as a fetus in early pregnancy and sonographically evaluated in the first trimester. Most cases of Ectopia Cordis will be detected at an early gestational age. Studies show, they believe the pathogenesis of Ectopia Cordis is caused by chromosome abnormalities (trisomy 18), the incomplete fusion of the midline mesoderm of the abdomen and the chest in the embryo stage, early rupture or yolk sac and the amniotic band syndrome which restricts blood flow and affects the baby's development. An interesting factor that I learned researching this disease is the rarity in Ectopia Cordis of the high death rates, few survivors and it's unknown
The prevalence of commotion cordis aids in the importance of this paper. Recently, the Minneapolis Heart Institute Foundation stated commotio cordis is one of the leading causes of sudden death in young athletes, only to be exceeded by hypertrophic cardiomyopathy and congential coronary artery abnormalities (Yabek, 2011). Over 250 instances have been reported to the US Commotio Cordis Registry since, there is most likely and underestimation of its true incidence since commotio cordis still continues to go unrecognized in many instances and therefore is underreported (Yabek, 2011).
During pregnancy an echocardiogram of the fetus can be done to produce images of the heart by sending ultrasonic sound waves to the vital organ. These sound waves create an image for the physician to analyze the babies heart function, structure sizes, and blood flow. A positive diagnosis before birth has shown to improve chances of survival, and will allow for appropriate care to be readily available at birth. If a baby is born without being diagnosed with the heart defect, some symptoms previous noted such as low oxygen levels can be suggestive of hypoplastic left heart syndrome. The baby may not display any symptoms or signs for hours after birth because of the openings allowing for blood to be pumped to the rest of the body. However, listening to the babies heart can revel a murmur indicating an irregular flow of blood in the heart. If a murmur is heard, or signs of the defect are observed, diagnostic tests will be ordered and performed. An echocardiogram is still the go-to test once the baby is born to evaluate the heart. The echocardiogram will diagnose the newborn, by revealing the underdeveloped left ventricle, mitral and aortic valve, and the ascending aorta commonly seen in
On ultrasound there is a live fetus in breech presentation. Fetal biometry is consistent with dates. A detailed anatomic survey was overall unremarkable and there were no gross structural abnormalities seen. There was some concern for a mildly echogenic bowel, but no other common markers of aneuploidy were seen.
Individuals with trisomy 13 often have many abnormalities that can be major or minor in the development of a child in the womb. Due to the life-threatening medical problems, many children born with trisomy 13 die within the first few weeks or days after they are born. Only a few of children with this condition live past their first year after they are born. The condition is very difficult to discover until a child is born. Mainly because it involves brain and heart abnormalities that are life threatening. Poor diagnosis of patients with trisomy 13 has long been accepted and has been found to have many complex brain and heart malformations. The child may live longer with heart or brain surgery but it is still rare to live past the age of 3 months. Surgery is tried to be avoided the most because of the child
A ventricular septal defect or hole in the heart occurs along the septum between the ventricles of the heart. During fetal development the left and right ventricles are not separated, but as the fetus continues its growth these two ventricles being to separate. If the septum or wall doesn’t completely form the baby is left with a hole in their heart, which allows oxygen-rich blood to mix with oxygen-poor blood. The blood shunted from the left ventricle to the right ventricle overworks the heart. The heart has trouble with the load and cannot pump efficiently. This overworking will put too much pressure on the lungs causing pulmonary hypertension and in response thickens the blood and may cause permanent lung damage. This hole normally closes with the continuance of growth. VSDs are treatable, have no known cause, but often occur with other congenital heart defects, and are not preventable.
Amniocentesis offers many advantages to the expecting mother. This test determines whether the unborn baby has genetic or chromosomal abnormalities. It identifies several hundred genetic disorders including some of the most common such as Down syndrome and Edward’s syndrome. It can also identify other genetic disorders such as Tay-Sachs disease, Huntington’s disease, Sickle cell disease, and cystic fibrosis. Other testing techniques such as ultrasounds pick up on these problems. Only amniocentesis is able to provide the information needed to diagnosis these problems in the womb. Amniocentesis can also indicate whether the baby is at risk for spina bifida and anencephaly. The test is more than 99 percent accurate in diagnosing these various conditions. It is the only test that can provide results which are accurate. Other important reasons to have the test include checking the well being of the baby. This is important if the mother has blood sensitization, such as Rh sensitization. Also the test can determine whether the baby’s lungs are mature enough for an early delivery if the mother appears to be in premature labor.
This can be diagnosed during the pregnancy or after the baby is born. “Anencephaly would result in an abnormal result on a blood or serum screening test or it might be seen during an ultrasound.” This birth defect is more common in girls than boys. There is also no cure or standard treatment since most die shortly after birth. As a way to offer support to these families, many hospitals offer perinatal hospice care. A perinatal hospice approach helps these families through the process: pregnancy, birth, and death. ("Facts about
The fetus may measure under expected weight, and with later ultrasounds, physical abnormalities may be seen. The use of an ultrasound is not a full proof method of diagnosis for trisomy 18. During the end of the first trimester, pregnant mothers are given the option of prenatal screening to assess the fetal risk of certain chromosomal abnormalities, including trisomy 18. This testing referred to as combined test, combines results from the mother’s blood and the ultrasound results. If results suggest a higher risk probability, a later more conclusive test will be scheduled. During the 15th to 18th week of pregnancy, an amniocentesis or chorionic villus can be performed to have a detailed analysis of the fetal chromosomal material which will show any abnormalities in their karyotype. There is a slight risk with both procedures of injury of the fetus or possible miscarriage. Newer testing has been developed as “non-invasive prenatal diagnosis,” which involves extracting fetal DNA from the mother’s blood sample. After birth, diagnosis is suspected based on physical attributes of the infant. As with before birth, blood testing for chromosome analysis is used for confirmation testing.
“Patau Syndrome (Trisomy 13) was first observed by Thomas Bartholin in 1657, but the chromosomal nature of the disease was ascertained by Dr. Klaus Patau in 1960. The disease is named in his honor. In England and Wales during 2008–09 there were 172 diagnoses of Patau's syndrome (trisomy 13), with 91% of diagnoses made prenatally. There were 111 elective abortions, 14 stillbirth/miscarriage/fetal deaths, 30 outcomes unknown, and 17 live births. Approximately 4% of Patau's syndrome with unknown outcomes are likely to result in a live birth, therefore the total number of live births is estimated to be 18. The small percentage of babies with the full Patau's syndrome who survive birth and early infancy may live to adulthood, and children with mosaic or partial forms of this trisomy may have a completely different and much more hopeful prognosis.”
The heart goes through many stages of change during embryonic development including those of cardiac looping and heart tube fusion (Martinsen 2005). The heart is of interest as many fatalities are due to heart defects and understanding the changes throughout the process of heart development could help with identifying the causes and treatments for these defects. In this report, the structure of the heart in the chick embryo at 40 and 56 hours will be compared.
Sudden infant death syndrome ( SIDS) is the greatest cause of infant deaths ranging from ages one month to one year. Most of these deaths occur before the age of six months. Normally, any unexplainable infant death is considered to be due to SIDS. Numerous attempts have been made to discover the exact cause of this syndrome. However,the only known pathology is that SIDS is due to a dysfunction or abnormality in the cardiac and/or respiratory systems. To this point, an exact and definite cause has not been named. This paper will attempt to present several of the proposed and hypothesized causes of SIDS.
The tapeworm is a pathogen. This pathogen is called a tapeworm because of its structure. Its body structure is as thin as tape and looks as if it was a worm. Considered by its name tape worm. It has sucking grooves on its head to cling to your intestines. The tapeworm has a reproductive system that is a male and female reproductive system. The tape worm can grow up to 50 feet long if it has lived in its host for 20 years. It eats the food you eat so that it can survive. The tapeworm can be transmitted to you if u eat meat not cooked properly that was infected with a tapeworm or has larva in it. The tapeworm may also take over your nervous
Each year in the United States there are six million child births. Of the six million births in the United States 12,000 are said to be due to ectopic pregnancies. One in fifty women are likely to have an ectopic pregnancy (Diagnostics, Pregnancy). An ectopic pregnancy is a complication within the first trimester of pregnancy and normally symptoms begin to occur between the five to fourteen week periods (Diagnostics). Ectopic means “in an abnormal position” (Ectopic). An ectopic pregnancy is when the ovum is fertilized and begins to develop somewhere other than the uterus.
The World Health Organisation (WHO) (2018) explains congenital anomalies as ‘..structural or functional anomalies that occur during intrauterine life and can be identified prenatally, at birth or later in life.’ It is estimated that 303,000 babies die within four weeks of their birth annually due to congenital malformations, some of which can be prevented (WHO 2015). There are various causes of heart congenital anomalies, with majority resulting from multiple gene defects or interactions with defective genes in the foetal environment (Leggat 2011). Blue et al. (2012), states congenital heart disease affects 2,000 newborns annually in
An Ectopic pregnancy is an abnormal pregnancy located outside the uterus. This occurs when the fertilized egg doesn’t make it to the