Information
This is information I found online. I double and sometimes triple checked facts before posting them to make sure they are as up to date and realistic as I personally can find out for everyone. I do not claim to own any of this information and if you see something that has been updated please contact me and let me know.
Prematurity
10% of all babies are born prematurely each year in the USA. In Every 10 minutes 250 babies are born premature.
Preterm birth (commonly referred to as "prematurity") is the most important single cause of death in children under 1 year of age worldwide. A preterm birth is one that occurs before the 37th week of pregnancy. Every year more than 400,000 families are left grief-stricken across America as a result of this deadly medical occurrence. Sadly, one out of every ten women will experience a preterm birth. Many of those precious babies will not survive. Furthermore, some of the families whose babies do survive are left coping with life-long disabilities including:
The exact cause of preterm birth as well as premature rupture of fetal membranes (PROM) has yet to be positively identified and treated. Extensive studies over the last two decades indicate that contributing factors in preterm births include (but are not limited to):
In 2001, the preterm birth rate was 11.9%, reflecting more than 476,000 newborns and the highest rate ever reported for the U.S. This represents 1 in 8 babies in the U.S. born prematurely.
The rate of preterm birth increased 27% between 1981 and 2001 from 9.4% to 11.9%.
On an average day in the U.S., 1,305 babies are born preterm (before 37 weeks), 213 are born very preterm (before 32 weeks).
Women with periodontal disease are at three to five times greater risk of preterm birth than those who are periodontally healthy.
Among racial/ethnic subgroups, preterm birth rates were highest among infants born to black mothers (17.5%) in 2001.
Major risk factors associated with increasing rates of preterm delivery include multiple births, advanced maternal age, induced deliveries and additional factors as yet unknown.
Preterm labor/delivery is the number one obstetrical challenge in the U.S.
In 2000 prematurity/low birthweight was the leading cause of neonatal mortality in the U.S., accounting for 23% of deaths in the first month of life.
Preterm birth is a leading challenge in pediatrics, accounting for substantial long-term disabilities such as mental retardation, cerebral palsy, vision and hearing problems, and chronic lung disease.
Causes of nearly half of all preterm births are unknown.
Preterm labor can happen to any pregnant woman.
Preterm birth (commonly referred to as "prematurity") is the most important single cause of death in children under 1 year of age worldwide. A preterm birth is one that occurs before the 37th week of pregnancy. Every year more than 400,000 families are left grief-stricken across America as a result of this deadly medical occurrence. Sadly, one out of every ten women will experience a preterm birth. Many of those precious babies will not survive. Furthermore, some of the families whose babies do survive are left coping with life-long disabilities including:
- Mental retardation
- Increased risk of blindness and respiratory problems
- Physical impairments such as cerebral palsy
The exact cause of preterm birth as well as premature rupture of fetal membranes (PROM) has yet to be positively identified and treated. Extensive studies over the last two decades indicate that contributing factors in preterm births include (but are not limited to):
- Maternal infection in the uterus (known as chorioamnionitis), urinary tract infections
- Twin gestations, placental abruptions, fetal anomalies, placental previa
- Overwhelming Inflammatory Response.
In 2001, the preterm birth rate was 11.9%, reflecting more than 476,000 newborns and the highest rate ever reported for the U.S. This represents 1 in 8 babies in the U.S. born prematurely.
The rate of preterm birth increased 27% between 1981 and 2001 from 9.4% to 11.9%.
On an average day in the U.S., 1,305 babies are born preterm (before 37 weeks), 213 are born very preterm (before 32 weeks).
Women with periodontal disease are at three to five times greater risk of preterm birth than those who are periodontally healthy.
Among racial/ethnic subgroups, preterm birth rates were highest among infants born to black mothers (17.5%) in 2001.
Major risk factors associated with increasing rates of preterm delivery include multiple births, advanced maternal age, induced deliveries and additional factors as yet unknown.
Preterm labor/delivery is the number one obstetrical challenge in the U.S.
In 2000 prematurity/low birthweight was the leading cause of neonatal mortality in the U.S., accounting for 23% of deaths in the first month of life.
Preterm birth is a leading challenge in pediatrics, accounting for substantial long-term disabilities such as mental retardation, cerebral palsy, vision and hearing problems, and chronic lung disease.
Causes of nearly half of all preterm births are unknown.
Preterm labor can happen to any pregnant woman.
Chorioamnionitis
Chorioamnionitis is a bacterial infection of the amniotic fluid and membranes that surround a developing baby. This can cause potentially dangerous infection in both the mother and baby. It is important for a pregnant woman to receive treatment for this infection because it is thought to be a major cause of preterm premature rupture of the membranes (PROM) and premature birth.
Symptoms of chorioamnionitis include a high fever, uterine pain, rapid heart rate in mother and/or baby, nasty smelling vaginal discharge or leaking amniotic fluid, and increased white blood cell count. Since there is no simple test to confirm chorioamnionitis, it is important that a pregnant woman report any of these symptoms to her health care provider right away. Diagnosis of this infection may require amniocentesis. If chorioamnionitis is diagnosed, antibiotics will be given to the mother, delivery may be scheduled immediately and then antibiotics will be given to both mom and baby after delivery.
Chorioamnionitis occurs in roughly 1 to 2 percent of all pregnancies. Women who have had it in a previous pregnancy are at increased risk of having it again in a future pregnancy.
Symptoms of chorioamnionitis include a high fever, uterine pain, rapid heart rate in mother and/or baby, nasty smelling vaginal discharge or leaking amniotic fluid, and increased white blood cell count. Since there is no simple test to confirm chorioamnionitis, it is important that a pregnant woman report any of these symptoms to her health care provider right away. Diagnosis of this infection may require amniocentesis. If chorioamnionitis is diagnosed, antibiotics will be given to the mother, delivery may be scheduled immediately and then antibiotics will be given to both mom and baby after delivery.
Chorioamnionitis occurs in roughly 1 to 2 percent of all pregnancies. Women who have had it in a previous pregnancy are at increased risk of having it again in a future pregnancy.
Congenital Heart Defects
About 35,000 infants (1 out of every 125) are born with heart defects each year in the United States. The defect may be so slight that the baby appears healthy for many years after birth, or so severe that his life is in immediate danger.
Heart defects are among the most common birth defects and are the leading cause of birth defect-related deaths. However, advances in diagnosis and surgical treatment have led to dramatic increases in survival for children with serious heart defects. In the United States, about 1.4 million children and adults live with congenital heart defects today. Almost all are able to lead active, productive lives.
A congenital heart defect is an abnormality in any part of the heart that is present at birth. Heart defects originate in the early weeks of pregnancy when the heart is forming.
Some babies and children with heart defects experience no symptoms. The heart defect may be diagnosed if the health care provider hears an abnormal sound, called a murmur. Children with normal hearts also can have heart murmurs, called innocent or functional murmurs. A provider may suggest tests to rule out a heart defect.
What are some of the most common heart defects, and how are they treated?
Patent ductus arteriosus (PDA): Before birth, a large artery (ductus arteriosus) lets the blood bypass the lungs because the fetus gets its oxygen through the placenta. The ductus normally closes soon after birth so that blood can travel to the lungs and pick up oxygen. If it doesn’t close, the baby may develop heart failure. This problem occurs most frequently in premature babies. Treatment with medicine during the early days of life often can close the ductus. If that doesn't work, surgery is needed. Septal defect: This is a hole in the wall (septum) that divides the right and left sides of the heart. A hole in the wall between the heart’s two upper chambers is called an atrial septal defect, while a hole between the lower chambers is called a ventricular septal defect. These defects can cause the blood to circulate improperly, so the heart has to work harder. Some atrial septal defects can be repaired without surgery by inserting a thin, flexible tube into the heart and then releasing a device that plugs the hole. A surgeon also can close an atrial or ventricular septal defect by sewing or patching the hole. Small holes may heal by themselves or not need repair at all. Coarctation of the aorta: Part of the aorta, the large artery that sends blood from the heart to the rest of the body, may be too narrow for the blood to flow evenly. A surgeon can cut away the narrow part and sew the open ends together, replace the constricted section with man-made material, or patch it with part of a blood vessel taken from elsewhere in the body. Sometimes, this narrowed area can be widened by inflating a balloon on the tip of a catheter (tube) inserted through an artery. Heart valve abnormalities: Some babies are born with heart valves that do not close normally or are narrowed or blocked, so blood can’t flow smoothly. Surgeons usually can repair the valves or replace them with man-made ones. Balloons on catheters also are frequently used to fix faulty valves. Tetralogy of Fallot: This combination of four heart defects keeps some blood from getting to the lungs. As a result, the blood that is pumped to the body may not have enough oxygen. Affected babies have episodes of cyanosis and may grow poorly. This defect is usually surgically repaired in the early months of life. Transposition of the great arteries: Transposition occurs when the positions of the two major arteries leaving the heart are reversed, so that each arises from the wrong pumping chamber. Affected newborns suffer from severe cyanosis due to a lack of oxygen in the blood. Recent surgical advances make it possible to correct this serious defect in the newborn period. Hypoplastic left heart syndrome: This combination of defects results in a left ventricle (the heart’s main pumping chamber) that is too small to support life. Without treatment, this defect is usually fatal in the first few weeks of life. However, over the last 25 years, survival rates have dramatically improved with new surgical procedures and, less frequently, heart transplants.
Heart defects are among the most common birth defects and are the leading cause of birth defect-related deaths. However, advances in diagnosis and surgical treatment have led to dramatic increases in survival for children with serious heart defects. In the United States, about 1.4 million children and adults live with congenital heart defects today. Almost all are able to lead active, productive lives.
A congenital heart defect is an abnormality in any part of the heart that is present at birth. Heart defects originate in the early weeks of pregnancy when the heart is forming.
Some babies and children with heart defects experience no symptoms. The heart defect may be diagnosed if the health care provider hears an abnormal sound, called a murmur. Children with normal hearts also can have heart murmurs, called innocent or functional murmurs. A provider may suggest tests to rule out a heart defect.
What are some of the most common heart defects, and how are they treated?
Congenital Diaphragmatic Hernia (CDH)
Congenital diaphragmatic hernia (CDH) is the absence of the diaphragm, or a hole in the diaphragm. This can occur on either the left or right side, but is most common on the left.
The contents of the abdomen, including the stomach, intestines, liver and spleen, may go through the hole and into the chest. The contents prevent the normal development of the lung (pulmonary hypoplasia) on that side, and may affect the growth of the other lung. After birth the infant will have difficulty breathing if the lungs are not developed enough.
There are two types of diaphragmatic hernia:
What causes a diaphragmatic hernia?
As a fetus grows in its mother's uterus before birth, different organ systems are developing and maturing. The diaphragm forms between the 7th and 10th week of pregnancy. The esophagus (the tube that leads from the throat to the stomach), the stomach, and the intestines are also developing at this time. In a Bochdalek hernia, the diaphragm may not develop properly, or the intestine may become trapped in the chest cavity as the diaphragm is forming. At times, the tendon that should develop in the middle of the diaphragm does not develop properly. In both cases, normal development of the diaphragm and the digestive tract does not occur.
Diaphragmatic hernia is a multifactorial condition, which means that "many factors," both genetic and environmental, are involved. It is thought that multiple genes from both parents, as well as a number of environmental factors that scientists do not yet fully understand, contribute to diaphragmatic hernia.
How often does a diaphragmatic hernia occur?
CDH occurs in about 1 in every 2,500 births. Bochdalek hernias make up about ninety percent of all cases. Why is a diaphragmatic hernia of concern? The lungs are developing at the same time as the diaphragm and the digestive system. A diaphragmatic hernia allows abdominal organs to move into the chest cavity, instead of remaining in the abdomen as they are developing. With the heart, lungs, and abdominal organs all taking up space in the chest cavity, the lungs do not have space to develop properly. This underdevelopment of the lungs is called pulmonary hypoplasia. A diaphragmatic hernia is a life-threatening illness. When the lungs do not develop properly during pregnancy, it can be difficult for the baby to breathe after birth. Healthy lungs have millions of small air sacs (alveoli), which resemble a balloon filled with air. With pulmonary hypoplasia:
When these conditions are present, the baby is unable to take in enough oxygen to stay healthy. The intestines, when relocated in the chest, also may not develop properly, especially if they are not receiving enough blood supply while they are developing. A good blood supply is necessary for the intestines to develop correctly, and to be healthy and function properly. CDH is also of concern due to possible associated anomalies, which in some cases may include heart, genitourinary, gastrointestinal, central nervous system or chromosomal anomalies.
What if a diaphragmatic hernia is suspected during pregnancy?
During routine prenatal care at around 18 weeks, an ultrasound may reveal the existence of a diaphragmatic hernia, or what is suspected to be CDH. A more detailed diagnosis, using more sophisticated testing including fetal MRI, is essential to confirm the presence of CDH, and to show more specifically the details of its severity.
What are the symptoms of a diaphragmatic hernia in babies?
When CDH is not diagnosed prenatally, the symptoms of a Bochdalek diaphragmatic hernia are often observable soon after the baby is born. The following are the most common symptoms of a Bochdalek diaphragmatic hernia. However, each child may experience symptoms differently. Symptoms may include:
How is congenital diaphragmatic hernia diagnosed after birth?
After birth, your baby's physician will perform a physical examination. A chest X-ray is done to look at the abnormalities of the lungs, diaphragm, and intestine. A blood test known as an arterial blood gas is often performed to evaluate the baby's breathing ability. Other tests that may be performed include:
Who is at risk for developing a diaphragmatic hernia?
Parents who have had one child with a diaphragmatic hernia are at increased risk to have another child with the same problem. In cases where it is the only health problem in a baby, the chance for diaphragmatic hernia to happen again in a future pregnancy is 2 percent, or two in 100 chances. Morgagni hernia is more common in girls than boys, whereas Bochdalek hernia is slightly more common in boys than girls. Babies with the Bochdalek type of diaphragmatic hernia are more likely to have another birth defect. Almost twenty percent have a congenital heart defect. Between 5 to 16 percent have a chromosomal abnormality
The contents of the abdomen, including the stomach, intestines, liver and spleen, may go through the hole and into the chest. The contents prevent the normal development of the lung (pulmonary hypoplasia) on that side, and may affect the growth of the other lung. After birth the infant will have difficulty breathing if the lungs are not developed enough.
There are two types of diaphragmatic hernia:
- Bochdalek hernia: This type involves an opening on the back side of the diaphragm. The stomach, intestines and liver or spleen usually move up into the chest cavity.
- Morgagni hernia: This type is rare and involves an opening in the front of the diaphragm, just behind the breast bone. The liver or intestines may move up into the chest cavity.
What causes a diaphragmatic hernia?
As a fetus grows in its mother's uterus before birth, different organ systems are developing and maturing. The diaphragm forms between the 7th and 10th week of pregnancy. The esophagus (the tube that leads from the throat to the stomach), the stomach, and the intestines are also developing at this time. In a Bochdalek hernia, the diaphragm may not develop properly, or the intestine may become trapped in the chest cavity as the diaphragm is forming. At times, the tendon that should develop in the middle of the diaphragm does not develop properly. In both cases, normal development of the diaphragm and the digestive tract does not occur.
Diaphragmatic hernia is a multifactorial condition, which means that "many factors," both genetic and environmental, are involved. It is thought that multiple genes from both parents, as well as a number of environmental factors that scientists do not yet fully understand, contribute to diaphragmatic hernia.
How often does a diaphragmatic hernia occur?
CDH occurs in about 1 in every 2,500 births. Bochdalek hernias make up about ninety percent of all cases. Why is a diaphragmatic hernia of concern? The lungs are developing at the same time as the diaphragm and the digestive system. A diaphragmatic hernia allows abdominal organs to move into the chest cavity, instead of remaining in the abdomen as they are developing. With the heart, lungs, and abdominal organs all taking up space in the chest cavity, the lungs do not have space to develop properly. This underdevelopment of the lungs is called pulmonary hypoplasia. A diaphragmatic hernia is a life-threatening illness. When the lungs do not develop properly during pregnancy, it can be difficult for the baby to breathe after birth. Healthy lungs have millions of small air sacs (alveoli), which resemble a balloon filled with air. With pulmonary hypoplasia:
- There are fewer air sacs than normal.
- The air sacs that are present are only able to partially fill with air.
- The air sacs deflate easily due to a lack of a lubricating fluid called surfactant.
When these conditions are present, the baby is unable to take in enough oxygen to stay healthy. The intestines, when relocated in the chest, also may not develop properly, especially if they are not receiving enough blood supply while they are developing. A good blood supply is necessary for the intestines to develop correctly, and to be healthy and function properly. CDH is also of concern due to possible associated anomalies, which in some cases may include heart, genitourinary, gastrointestinal, central nervous system or chromosomal anomalies.
What if a diaphragmatic hernia is suspected during pregnancy?
During routine prenatal care at around 18 weeks, an ultrasound may reveal the existence of a diaphragmatic hernia, or what is suspected to be CDH. A more detailed diagnosis, using more sophisticated testing including fetal MRI, is essential to confirm the presence of CDH, and to show more specifically the details of its severity.
What are the symptoms of a diaphragmatic hernia in babies?
When CDH is not diagnosed prenatally, the symptoms of a Bochdalek diaphragmatic hernia are often observable soon after the baby is born. The following are the most common symptoms of a Bochdalek diaphragmatic hernia. However, each child may experience symptoms differently. Symptoms may include:
- difficulty breathing
- fast breathing
- fast heart rate
- cyanosis (blue color of the skin)
- abnormal chest development, with one side being larger than the other
- abdomen that appears caved in (concave).
How is congenital diaphragmatic hernia diagnosed after birth?
After birth, your baby's physician will perform a physical examination. A chest X-ray is done to look at the abnormalities of the lungs, diaphragm, and intestine. A blood test known as an arterial blood gas is often performed to evaluate the baby's breathing ability. Other tests that may be performed include:
- blood test for chromosomes (to determine if there is a genetic problem)
- ultrasound of the heart (echocardiogram).
Who is at risk for developing a diaphragmatic hernia?
Parents who have had one child with a diaphragmatic hernia are at increased risk to have another child with the same problem. In cases where it is the only health problem in a baby, the chance for diaphragmatic hernia to happen again in a future pregnancy is 2 percent, or two in 100 chances. Morgagni hernia is more common in girls than boys, whereas Bochdalek hernia is slightly more common in boys than girls. Babies with the Bochdalek type of diaphragmatic hernia are more likely to have another birth defect. Almost twenty percent have a congenital heart defect. Between 5 to 16 percent have a chromosomal abnormality
Taybi-Linder dwarfism
Note: Also referred to as microcephalic osteodysplastic primordial dwarfism
Taybi-Linder is an extremely rare and horrible syndrome. There are only 34 reported cases since it was identified 40 years ago. Most children die before one year of age. My nephew Drake who's on the Angel Page 1 was one of these children. There is VERY little information out there about Taybi-Linder Dwarfism so I will just post what I could find.
Definition: These syndromes associate growth retardation with microcephaly and various facial anomalies. The number of reported case is small and the difference between the subtypes probably not identifiable by prenatal ultrasound, which is the reason they are lumped them altogether.
Synonyms: Osteodysplastic primordial dwarfism, type I, brachymelic primordial dwarfism, Taybi-Linder syndrome, cephaloskeletal dysplasia, low-birth-weight dwarfism with skeletal dysplasia.
Incidence: Less than 50 cases have been reported.
Etiology: Sporadic with possible autosomal recessive inheritance.
Diagnosis: The findings include growth retardation with microcephaly, micrencephaly, lissencephaly, micrognathia and moderately short limbs. Type II-III may have platyspondyly.
Associated anomalies: Include beaked nose, large eyes, dysplastic ears, clinodactyly, dysgenesis of the corpus callosum, focal renal medullary dysplasia, small iliac wings with flat acetabular angles, coxa vara, V-shaped distal femoral metaphyses, triangular distal femoral epiphyses, pseudoepiphyses of metacarpals, short first metacarpals, and brachymesophalangy of the fifth digit.
Differential diagnosis: Aneuploidies (trisomy 13, 18).
Prognosis: Not known. Most children have died within the first year.
Management: Termination of pregnancy can be offered before viability, otherwise no alteration of prenatal care are suggested
Microcephalic and osteodysplastic primordial dwarfism (MODP) types I, II, and III were defined by Majewski et al. in 1982. This group of syndromes was characterized by intrauterine growth retardation, microcephaly, and typical facial appearance with prominent nose and micrognathia. Type II was clearly different, both clinically and radiologically, whereas types I and III shared manifestations. Distinction between the latter two was established on the basis of subtle radiological differences. In 1967, Taybi and Linder described another syndrome with microcephalic congenital dwarfism. There is a consensus that MODP type I and III and Taybi-Linder cephaloskeletal dysplasia represent the same disorder. We report on four patients with MODP type Taybi-Linder syndromes, two of whom were born to unrelated but consanguineous parents, while the other two were sibs. Second-trimester prenatal detection by ultrasonography was possible in one case. Consanguinity in two cases and recurrence among sibs are consistent with autosomal recessive inheritance.
Taybi-Linder is an extremely rare and horrible syndrome. There are only 34 reported cases since it was identified 40 years ago. Most children die before one year of age. My nephew Drake who's on the Angel Page 1 was one of these children. There is VERY little information out there about Taybi-Linder Dwarfism so I will just post what I could find.
Definition: These syndromes associate growth retardation with microcephaly and various facial anomalies. The number of reported case is small and the difference between the subtypes probably not identifiable by prenatal ultrasound, which is the reason they are lumped them altogether.
Synonyms: Osteodysplastic primordial dwarfism, type I, brachymelic primordial dwarfism, Taybi-Linder syndrome, cephaloskeletal dysplasia, low-birth-weight dwarfism with skeletal dysplasia.
Incidence: Less than 50 cases have been reported.
Etiology: Sporadic with possible autosomal recessive inheritance.
Diagnosis: The findings include growth retardation with microcephaly, micrencephaly, lissencephaly, micrognathia and moderately short limbs. Type II-III may have platyspondyly.
Associated anomalies: Include beaked nose, large eyes, dysplastic ears, clinodactyly, dysgenesis of the corpus callosum, focal renal medullary dysplasia, small iliac wings with flat acetabular angles, coxa vara, V-shaped distal femoral metaphyses, triangular distal femoral epiphyses, pseudoepiphyses of metacarpals, short first metacarpals, and brachymesophalangy of the fifth digit.
Differential diagnosis: Aneuploidies (trisomy 13, 18).
Prognosis: Not known. Most children have died within the first year.
Management: Termination of pregnancy can be offered before viability, otherwise no alteration of prenatal care are suggested
Microcephalic and osteodysplastic primordial dwarfism (MODP) types I, II, and III were defined by Majewski et al. in 1982. This group of syndromes was characterized by intrauterine growth retardation, microcephaly, and typical facial appearance with prominent nose and micrognathia. Type II was clearly different, both clinically and radiologically, whereas types I and III shared manifestations. Distinction between the latter two was established on the basis of subtle radiological differences. In 1967, Taybi and Linder described another syndrome with microcephalic congenital dwarfism. There is a consensus that MODP type I and III and Taybi-Linder cephaloskeletal dysplasia represent the same disorder. We report on four patients with MODP type Taybi-Linder syndromes, two of whom were born to unrelated but consanguineous parents, while the other two were sibs. Second-trimester prenatal detection by ultrasonography was possible in one case. Consanguinity in two cases and recurrence among sibs are consistent with autosomal recessive inheritance.
Trisomy 18 (Edwards Syndrome)
Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with severe intellectual disability and abnormalities in many parts of the body. Individuals with trisomy 18 often have a low birth weight; a small, abnormally shaped head; a small jaw and mouth; clenched fists with overlapping fingers; heart defects; and abnormalities of other organs. Due to the presence of several life-threatening medical problems, many infants with trisomy 18 die within their first month. Five percent to 10 percent of children with this condition live past their first year.
Trisomy 18 occurs in about 1 in 5,000 newborns. Approximately 80 percent of newborns affected by this disorder are female. Although women of all ages can have a child with trisomy 18, the chance of having a child with this condition increases as a woman gets older.
Most cases of trisomy 18 are not inherited, but occur as random events during the formation of eggs and sperm. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 18. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 18 in each of the body's cells.
Mosaic trisomy 18 is also not inherited. It occurs as a random event during cell division early in embryonic development. As a result, some of the body's cells have the usual two copies of chromosome 18, and other cells have three copies of this chromosome.
Translocation trisomy 18 can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 18 and another chromosome. This rearrangement is called a balanced translocation because there is no extra material from chromosome 18. Although they do not have signs of trisomy 18, people who carry this type of balanced translocation are at an increased risk of having children with the condition.
Trisomy 18 occurs in about 1 in 5,000 newborns. Approximately 80 percent of newborns affected by this disorder are female. Although women of all ages can have a child with trisomy 18, the chance of having a child with this condition increases as a woman gets older.
Most cases of trisomy 18 are not inherited, but occur as random events during the formation of eggs and sperm. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 18. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 18 in each of the body's cells.
Mosaic trisomy 18 is also not inherited. It occurs as a random event during cell division early in embryonic development. As a result, some of the body's cells have the usual two copies of chromosome 18, and other cells have three copies of this chromosome.
Translocation trisomy 18 can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 18 and another chromosome. This rearrangement is called a balanced translocation because there is no extra material from chromosome 18. Although they do not have signs of trisomy 18, people who carry this type of balanced translocation are at an increased risk of having children with the condition.
Trisomy 13 (Patau Syndrome)
Patau syndrome, or Trisomy 13 and Trisomy D, is a rare syndrome in which a patient has an extra chromosome 13. The additional copy of chromosome 13 in Patau syndrome interferes with the normal course of development, causing chronic neurological, heart and kidney defects. Similar to the other nondisjunction conditions – Down syndrome and Edwards syndrome – the risk of this syndrome is associated with the increased maternal age at pregnancy. Patau syndrome affects roughly one in 10,000 live births, equally affecting people of all ethnic backgrounds.
Most of the time, Patau syndrome results from trisomy 13, meaning that every cell in the body contains three copies of chromosome 13 instead of two copies. In some rare cases, it occurs when just a few of the body’s cell have an additional copy, leading to a mixed population of cells with a differing number of chromosomes, known as mosaic Patau.
Patau syndrome is usually not inherited, they occur as random events throughout the formation of reproductive cells, both eggs and sperm. An error known as non-disjunction might result in reproductive cells with an atypical number of chromosomes. Mosaic Patau syndrome is not inherited either, as it takes place as a random error during cell division in the stage of fetal development.
However, Patau syndrome might be inherited due to a translocation, meaning an unaffected individual might carry a repositioned genetic material between chromosome 13 and another chromosome. The repositioning is called balanced translocation as there is no additional material from chromosome 13. Despite the fact that these people do not present any signs of Patau syndrome, have high chances of having children with this syndrome.
Newborns with Patau syndrome that survive to gestation and birth share common abnormalities, such as extra fingers or toes, deformed feet – also known as rocker-bottom feet, various neurological problems including small head – microcephaly, failure of the forebrain to properly split during gestation, chronic deficiency, different facial defects including small eyes, malformed nose, cleft lip or cleft palate, heart and kidney defects or abnormal genitalia.
The signs of Patau syndrome are obvious at birth, but it might be mistaken for Edwards syndrome, reason why genetic testing should be carried out to confirm the diagnosis. Additionally, computed tomography – CT or magnetic resonance imaging – MRI should be performed to check for heart, kidney and brain defects. An echocardiogram should also be carried out because of the common heart defects associated with Patau syndrome.
Trisomy 13 was initially observed by Erasmus Bartholin in 1657, but the chromosomal nature of the syndrome was determined in 1960 by Dr. Klaus Patau and the disease is named in his honor.
The treatment of children with trisomy 13 is carried out on a case-by-case basic and depends on the specific circumstances of the patient. The treatment concentrates on the particular physical problems each infant is born. Several infants face problems in surviving the first days or weeks because of the numerous neurological problems or multiple heart effects. Surgical procedure might be necessary to fix heart defects or cleft lip and/or cleft palate. Different and combined – physical, occupational and speech – therapy will help individuals suffering from Patau syndrome to reach their complete developmental potential.
Most of the time, Patau syndrome results from trisomy 13, meaning that every cell in the body contains three copies of chromosome 13 instead of two copies. In some rare cases, it occurs when just a few of the body’s cell have an additional copy, leading to a mixed population of cells with a differing number of chromosomes, known as mosaic Patau.
Patau syndrome is usually not inherited, they occur as random events throughout the formation of reproductive cells, both eggs and sperm. An error known as non-disjunction might result in reproductive cells with an atypical number of chromosomes. Mosaic Patau syndrome is not inherited either, as it takes place as a random error during cell division in the stage of fetal development.
However, Patau syndrome might be inherited due to a translocation, meaning an unaffected individual might carry a repositioned genetic material between chromosome 13 and another chromosome. The repositioning is called balanced translocation as there is no additional material from chromosome 13. Despite the fact that these people do not present any signs of Patau syndrome, have high chances of having children with this syndrome.
Newborns with Patau syndrome that survive to gestation and birth share common abnormalities, such as extra fingers or toes, deformed feet – also known as rocker-bottom feet, various neurological problems including small head – microcephaly, failure of the forebrain to properly split during gestation, chronic deficiency, different facial defects including small eyes, malformed nose, cleft lip or cleft palate, heart and kidney defects or abnormal genitalia.
The signs of Patau syndrome are obvious at birth, but it might be mistaken for Edwards syndrome, reason why genetic testing should be carried out to confirm the diagnosis. Additionally, computed tomography – CT or magnetic resonance imaging – MRI should be performed to check for heart, kidney and brain defects. An echocardiogram should also be carried out because of the common heart defects associated with Patau syndrome.
Trisomy 13 was initially observed by Erasmus Bartholin in 1657, but the chromosomal nature of the syndrome was determined in 1960 by Dr. Klaus Patau and the disease is named in his honor.
The treatment of children with trisomy 13 is carried out on a case-by-case basic and depends on the specific circumstances of the patient. The treatment concentrates on the particular physical problems each infant is born. Several infants face problems in surviving the first days or weeks because of the numerous neurological problems or multiple heart effects. Surgical procedure might be necessary to fix heart defects or cleft lip and/or cleft palate. Different and combined – physical, occupational and speech – therapy will help individuals suffering from Patau syndrome to reach their complete developmental potential.
Trisomy 16
Full Trisomy 16: a chromosomal disorder in which an individual has three copies of chromosome 16 instead of the usual two. Trisomy 16 is not compatible with life and is the most common chromosomal cause of miscarriages (causing over 100,000 miscarriages annually in the U.S. alone). Mosaic Trisomy 16: an extremely rare chromosomal disorder in which an extra chromosome 16 is present in some, but not all, of the cells of the affected individual's body. The affects of the disorder vary greatly, but some of the more common characteristics include intrauterine growth retardation (IUGR) and congenital heart defects.
Mosaic Trisomy 16 Confined to the Placenta (CPM): a condition in which the chromosome 16 abnormality is believed to be present only in the placental tissues.
Uniparental Disomy of Chromosome 16: a condition in which the chromosomes appear normal but both copies have originated from just one of the two parents (this is most often found in association with mosaic trisomy 16).
Mosaic Trisomy 16 Confined to the Placenta (CPM): a condition in which the chromosome 16 abnormality is believed to be present only in the placental tissues.
Uniparental Disomy of Chromosome 16: a condition in which the chromosomes appear normal but both copies have originated from just one of the two parents (this is most often found in association with mosaic trisomy 16).
Trisomy 9
Chromosome 9, Trisomy Mosaic, also known as Trisomy 9 Mosaicism syndrome, is a rare chromosomal disorder in which the entire 9th chromosome appears three times (trisomy) rather than twice in some cells of the body. The term "mosaic" indicates that some cells contain the extra chromosome 9, while others have the normal chromosomal pair.
Associated symptoms and findings may vary greatly in range and severity, depending on the percentage of cells with the extra chromosome. However, common features include growth deficiency before birth (intrauterine growth retardation); mental retardation; structural malformations of the heart that are present at birth (congenital heart defects); and/or distinctive abnormalities of the skull and facial (craniofacial) region, such as a sloping forehead, a bulbous nose, short eyelid folds (palpebral fissures), deeply set eyes, and/or low-set, malformed ears. The syndrome may also be characterized by musculoskeletal, genital, kidney (renal), and/or additional physical abnormalities. Chromosome 9, Trisomy Mosaic may be caused by errors during the division of a parent's reproductive cells (meiosis) or during the division of body tissue cells (somatic cells) early in the development of the embryo (mitosis).
Chromosome 9, Trisomy 9p is a rare chromosomal syndrome in which a portion of the 9th chromosome appears three times (trisomy) rather than twice in cells of the body. The trisomy may involve a portion of the short arm (9p), the entire short arm, or the short arm and a portion of the long arm (9q) of chromosome 9. (Each chromosome contains a short arm known as "p" and a long arm designated as "q.") Evidence suggests that, in many cases, associated symptoms and findings may be relatively similar among affected infants despite differing lengths of the trisomic (duplicated) segment of 9p. However, in those with larger trisomies (e.g., extending to middle or end [distal] regions of 9q), additional features may also be present that appear to correlate with the extent of the duplication.
Virtually all individuals with Trisomy 9p are affected by mental retardation and distinctive malformations of the skull and facial (craniofacial) region. In some instances, additional physical abnormalities may also be present, such as other skeletal defects, structural malformations of the heart that are present at birth (congenital heart defects), and/or other findings. In some cases, the trisomy appears to result from a balanced chromosomal rearrangement in one of the parents; in others, it is thought to arise from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically).
Chromosome 9, Tetrasomy 9p is a very rare chromosomal disorder in which the short arm of the ninth chromosome (9p) appears four times (tetrasomy) rather than twice in all or some cells of the body. Individuals with a normal chromosomal make-up (karyotype) have two 9th chromosomes, both of which have a short arm ("9p") and a long arm ("9q"). However, in individuals with Chromosome 9, Tetrasomy 9p, four short arms (9ps) are present in cells rather than the normal two.
The symptoms of Chromosome 9, Tetrasomy 9p may vary greatly in range and severity from case to case. Associated abnormalities may include mild growth retardation, moderate to severe delay in the attainment of skills requiring the coordination of muscular and mental activities (psychomotor retardation), and/or moderate to severe mental retardation. In addition, the disorder may be characterized by various physical abnormalities, such as malformations of the skull and facial (craniofacial) region, abnormalities of the hands and fingers, skeletal malformations, and/or heart (cardiac) defects. Chromosome 9, Tetrasomy 9p appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically).
Associated symptoms and findings may vary greatly in range and severity, depending on the percentage of cells with the extra chromosome. However, common features include growth deficiency before birth (intrauterine growth retardation); mental retardation; structural malformations of the heart that are present at birth (congenital heart defects); and/or distinctive abnormalities of the skull and facial (craniofacial) region, such as a sloping forehead, a bulbous nose, short eyelid folds (palpebral fissures), deeply set eyes, and/or low-set, malformed ears. The syndrome may also be characterized by musculoskeletal, genital, kidney (renal), and/or additional physical abnormalities. Chromosome 9, Trisomy Mosaic may be caused by errors during the division of a parent's reproductive cells (meiosis) or during the division of body tissue cells (somatic cells) early in the development of the embryo (mitosis).
Chromosome 9, Trisomy 9p is a rare chromosomal syndrome in which a portion of the 9th chromosome appears three times (trisomy) rather than twice in cells of the body. The trisomy may involve a portion of the short arm (9p), the entire short arm, or the short arm and a portion of the long arm (9q) of chromosome 9. (Each chromosome contains a short arm known as "p" and a long arm designated as "q.") Evidence suggests that, in many cases, associated symptoms and findings may be relatively similar among affected infants despite differing lengths of the trisomic (duplicated) segment of 9p. However, in those with larger trisomies (e.g., extending to middle or end [distal] regions of 9q), additional features may also be present that appear to correlate with the extent of the duplication.
Virtually all individuals with Trisomy 9p are affected by mental retardation and distinctive malformations of the skull and facial (craniofacial) region. In some instances, additional physical abnormalities may also be present, such as other skeletal defects, structural malformations of the heart that are present at birth (congenital heart defects), and/or other findings. In some cases, the trisomy appears to result from a balanced chromosomal rearrangement in one of the parents; in others, it is thought to arise from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically).
Chromosome 9, Tetrasomy 9p is a very rare chromosomal disorder in which the short arm of the ninth chromosome (9p) appears four times (tetrasomy) rather than twice in all or some cells of the body. Individuals with a normal chromosomal make-up (karyotype) have two 9th chromosomes, both of which have a short arm ("9p") and a long arm ("9q"). However, in individuals with Chromosome 9, Tetrasomy 9p, four short arms (9ps) are present in cells rather than the normal two.
The symptoms of Chromosome 9, Tetrasomy 9p may vary greatly in range and severity from case to case. Associated abnormalities may include mild growth retardation, moderate to severe delay in the attainment of skills requiring the coordination of muscular and mental activities (psychomotor retardation), and/or moderate to severe mental retardation. In addition, the disorder may be characterized by various physical abnormalities, such as malformations of the skull and facial (craniofacial) region, abnormalities of the hands and fingers, skeletal malformations, and/or heart (cardiac) defects. Chromosome 9, Tetrasomy 9p appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically).
Zoloft and SSIs and Birth Defects
Recently I was contacted by someone who brought into light the effect Zoloft can have while taken while pregnant. You can view information on the risks of Zoloft during pregnancy here:
http://www.zoloftlawsuit.com/
In recent years, clinical studies have linked numerous antidepressant medications including Zoloft to birth defects and other complications if taken by women who are pregnant. Women who take Zoloft or other antidepressants known as selective serotonin reuptake inhibitors (SSRIs) at any point during pregnancy are at an increased risk of giving birth to a child with serious congenital heart deformities or other complications at birth. Zoloft, also available as the generic drug sertraline, is listed as a Pregnancy Category C medication by the U.S. Food and Drug Administration and is approved for the treatment of clinical depression and certain anxiety disorders.
Unfortunately, it has been discovered that taking Zoloft during pregnancy can increase the risk of certain birth defects, especially if the medication is taken during the third trimester, yet women may have been unaware of the risks associated with Zoloft treatment.
Birth defects linked to the use of Zoloft during pregnancy include:
http://www.zoloftlawsuit.com/
In recent years, clinical studies have linked numerous antidepressant medications including Zoloft to birth defects and other complications if taken by women who are pregnant. Women who take Zoloft or other antidepressants known as selective serotonin reuptake inhibitors (SSRIs) at any point during pregnancy are at an increased risk of giving birth to a child with serious congenital heart deformities or other complications at birth. Zoloft, also available as the generic drug sertraline, is listed as a Pregnancy Category C medication by the U.S. Food and Drug Administration and is approved for the treatment of clinical depression and certain anxiety disorders.
Unfortunately, it has been discovered that taking Zoloft during pregnancy can increase the risk of certain birth defects, especially if the medication is taken during the third trimester, yet women may have been unaware of the risks associated with Zoloft treatment.
Birth defects linked to the use of Zoloft during pregnancy include:
- Atrial septal defects (ASD)
- Ventricular septal defects (VSD)
- Persistent pulmonary hypertension of the newborn (PPHN)
- Omphalocele
- Craniosynotostosis
