Tetra-Amelia Syndrome

Procedures such as amniocentesis and chorionic villus sampling (CVS) represent the standard diagnostic methods used by clinicians to screen fetuses for abnormalities or genetic disease such as Down syndrome. In amniocentesis, a needle is inserted into the amniotic sac of the mother and a small sample of amniotic fluid is obtained. Fetal tissue is contained within the amniotic fluid and is subsequently analyzed genetically and cytogenetically for abnormalities. In the case of CVS, a sample of placental tissue is obtained through the mother’s cervix for downstream genetic analysis as in the case of amniocentesis (CDC,

Rett syndrome (RTT) is a rare random brain & nervous system disorder that only affects girls due to it being an X-linked mutation and although it is genetic, it is not hereditary; it rarely affects boys, when it does the symptoms are more severe and the “babies rarely live past birth” (Bhandari, 2017). The babies usually go through a normal pregnancy and start to show symptoms after the first six months; they become more prominent at “12 and 18 months, and they can be sudden or progress slowly.” (Bhandari, 2017). Symptoms include “slowed growth, trouble with breathing, no language skills, problems with hand movements, muscles, and coordination” (Bhandari, 2017). There is no cure, but the best available treatments include “standard medical care

Tetralogy of Fallot (ToF) and Transposition of the great vessels (TGA) are congenital heart defects affecting the vessels of the heart. In both pathologies, patients present with cyanosis, due to abnormal communication between ventricles. The mechanisms by which cyanosis occurs differs because ToF impacts blood flow due to constriction and TGA impacts the ability of the body to receive re-oxygenated blood.1

The MECP2 gene contains instructions for the synthesis of a protein called methyl cytosine, combining protein two (MECP2) , which affects brain development and acts as a biochemical switch to increase gene expression or tell other genes to turn off and stop producing their own unique protein. Not everyone who has a MECP2 mutation has Rett Syndrome. Scientist have identified mutations in the CDKL5 and FOXG1 genes in individuals as atypical or congenital Rett Syndrome. In some families of individuals affected by Rett Syndrome, there are other female family members who have the mutation of the MECP2 gene but do not show clinical symptoms. The females are known as “asymptomatic female

Congenital Heart Defect’s (CHD) affect about 1% of all births in the United States or about 40,000 babies per year (www.CDC.gov). Tetralogy of Fallot (TOF) is a CHD that accounts for an estimated 10% of these births. There are many factors that are involved in the diagnosis, treatment and quality of life for these children. The effects of the CHD vary in severity, therefore the effects it has on a child’s life vary. The etiology of TOF, how specific organs, cells, and tissues are affected, and what organ systems are affected will all be discussed and explained. . The effects vary greatly between patients this paper will focus on the average effects of this condition in order to provide a better understanding of TOF.

Tetralogy of fallot is a complicated and rare congenital heart disease. It happens in 5 out of 10000 babies where males and females are equally affected. Children with Down syndrome or DiGeorge syndrome are more common. It involves four types of heart abnormalities and malformations. The four defects are overriding aorta, pulmonary stenosis, ventricular septal defect and right ventricular hypertrophy. As a result, blood flow is significantly changed where the blood is not fully oxygenated in the lungs and the tissues in the body receive poor oxygenated blood. This causes severe complications and problems to the patients.

This is a genetic disorder caused by a missing piece of chromosome 4. It is a rare disease and only affects about 1:50,000 births. The result of this missing piece on the short arm of chromosome 4 is a wide range of physical and developmental symptoms and impairments. These include microcephaly, slow growth in utero and postpartum, hypotonia, seizures, profound intellectual disability, cryptorchidism, and hypospadias, amongst many others. In addition, the child tends to have distinct facial features---“Greek Helmet Facies”--- including a broad nose, cranial asymmetry, hypertelorism, micrognathia, abnormal upper lips, cleft lip and/or cleft palate, and preauricular tags and/or pits. The list of remaining signs and symptoms is too long to this for the purposes of this assignment so I have listed some of the more common ones, knowing that each child may exhibit a different cluster of symptoms. Initial signs of the disease are found during pre-natal ultrasounds but it can only be confirmed through genetic testing. (Wolf-Hirschorn syndrome, n.d.)

Having a diagnosis of Tetralogy of Fallot should mean having a death sentence. With an occurrence rate of 3 in every 10,000, it is the most common cause of cyanotic cardiac disease. [Wynbrandt, 366] There are four defects that commonly occur together; ventricular septal defect, hypertrophied right ventricle, malposition of the aorta, and pulmonary stenosis. For one to be diagnosed as a Tetralogy of Fallot baby, the patient must present with at least two of the four defects. Any one of these defects can cause serious catastrophe to the cardiac system. Combining these defects together makes it that much more complicated for the cardiologist to correct. Without the advancements made in cardiology, this diagnosis would mean certain death to the postnatal child.

Tetrology of Fallot(TOF) is the most common prenatal congenital cyanotic heart disease accounts for about 1/3600 live births and about 7% to 10% of of all congenital heart disease and is the most common cause of cyanosis in the neonatal period1 , 2. Typical Tetralogy of Fallot (TOF) may be missed in Four chamber view. An abnormal Four chamber view is rarely seen in typical TOF cases . In the typical form of TOF the fetal echocardiography is often characterized by a normal four-chamber view, a subaortic Ventricular septal defect (VSD), Dilated over riding of aorta seen in a LVOT view, Pulmonary stenosis and an increased Aorta/Pulmonary artery ratio, minimal antegrade flow in the main pulmonary artery and the aortic flow originated from right and left ventricle. All pregnant women with low risk factors , suspected fetal cardiac anomalies and with increased risk factors should be analyzed by extended fetal echo during the level 2 scan (18 – 22 weeks scan ). It is also important to identify the side of the aortic arch, which is quite easier in the prenatal period in three vessel view . This will be useful if surgery is planned postnatally. Extracardiac abnormalities, such as midline defects, central nervous system and renal abnormalities may be found in fetuses with TOF. These extracardiac defects are associated with chromosomal abnormalities. When TOF is diagnosed, serial follow up scans at 5 – 6 weeks intervals are adviced to know about the growth of the

Different studies and different recourses show that about 1 in 33 babies that are born in the U.S have a birth defect. I decided to use this known fact from the Human Biology thirteenth edition textbook by Sylvia S. Mader and Michael Windelpecht due to the fact that not many people know or even care to think about it— that is— unless it happened to them or someone in their own circle. In order to understand how to prevent and test for a birth defect you need to understand some common definitions and words that can be used while reading about the topic. For starters, as stated in the merriam-webster dictionary, the medical definition of defect is “a lack or deficiency of something necessary for adequacy in form or function.” Another word that is used a lot when talking about this subject matter is test and testing. Based on the medical definition a test is “a diagnostic procedure for determining the presence or nature of a condition or disease or for revealing a change in function.” From this definition you can see how the word test is also used in medical vocabulary to see what is wrong with a patient so the doctors can determine what to do next. The last term that I want to explain briefly before continuing is one that people might get confused with, it is the word prevent. Although it might seem like an easy word people still confuse it with the act of curing someone. The dictionary without a doubt states that the word prevent means “to keep from happening or existing”

Rett syndrome (RTT). RTT, identified for the first time in 1966 by Andreas Rett, is a rare genetic neurodevelopmental disorder that occurs predominantly in girls. The clinical features include growth failure, psychomotor regression, characteristic repetitive stereotyped hands movements, and severe problems with language, learning and coordination development. Other signs involve breathing abnormalities, seizures and scoliosis (Leonard H, Cobb S, Downs J. Clinical and biological progress over 50 years in Rett syndrome. Nat Rev Neurol. 2017 Jan;13(1):37-51). In 1999, it has been established that RTT is caused by mutations in the X-linked MECP2 (methyl CpG binding protein 2) gene (Amir et al., Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat. Genet. 23,

Tetralogy of Fallow is a surgically, treatable disease characterized by all or a combination of at least four congenital birth defects. It accounts for 10% of all congenital heart defects that modify the formation of the heart. It also alters the way blood flows through the heart. Tetralogy of Fallow is usually diagnosed at birth or infancy and with surgery a child can live a relatively normal life. The prefix tetra means four and the term fallot is named after a French doctor who first discovered the disease in the 1800’s. Appropriately named after the discovery, Tetralogy of Fallow came about because of the four heart defects observed. One major complication that manifest from Tetralogy of Fallow is a lack of oxygen flowing out of the

Will your child be the 1 out of 2500 births with Trisomy 18? Trisomy 18 is caused by an error in cell division while in embryonic development. It is caused by an extra chromosome on chromosome 18. (So, there is three chromosome 18 instead of the regular two.) Usual symptoms are low weight at birth, small abnormally shaped head, and organ defects that are often fatal.

Aneuploidy is when there is a deletion or duplication of a single chromosome (Pierce, 2013, p. 159). Alteration in the number of chromosomes can affect the health of an individual. One good example of aneuploidy is the Trisomy 13, also known as Patau syndrome. This condition is caused by an extra 13thchromosome, instead of the normal two copies. It occurs in about 1 out of every 10,000 newborns and affects female slightly more than the male. Babies who are born with this disorder have many abnormalities. Affected infants will present with intellectual and physical abnormalities that include brain and spinal cord abnormalities, heart defects, kidney defects, and extra fingers or toes. Their head is smaller than the normal baby, they have cleft

On follow up at 6 months of age, he had global developmental delay, macrocephaly, frontal bossing, multiple hemangiomas (figure 1,figure 2),cutis marmorata, marked hypotonia with head lag and left sided ptosis. There was no polydactyly or body asymmetry. karyotype and array comparative genomic hybridization (array CGH) were normal. He was reviewed by geneticist and tested positive for ALK1 gene mutation. Echocardiography has shown a mildly dilated aortic root with no other cardiac abnormalities. He was reviewed by ophthalmologists and was noted to have infantile esotropia with left sided Marcus Gunn