Amniiotic Band Syndrome Cleft lip/palate Congenital Limb defects Duodenal Atresia

Hydrocephalus Spina Bifida Patau Syndrome

Down Syndrome Achondroplasia Clubfoot

Gastroschisis Hypospadias Tracheoesophageal Fistula

 Congenital Abnormalities in Babies
Some babies are born with certain abnormalities, which are present at the time of the birth of the baby. These are known as
congenital abnormalities. These abnormalities are a result of problems, while the baby was developing in the fetus or because of
complications during labor. These may be hereditary abnormalities. The causes of more than half of the congenital abnormalities in
human are unknown. They are referred to as sporadic.
occurring together with ABS, this co-occurrence suggests an
Amniotic Band Syndrome "intrinsic" defect of the blood circulation.
Amniotic band syndrome is caused when the amnion, the Diagnosis
inner layer of the placenta, breaks by chance. This causes Amniotic band syndrome is often difficult to detect before
amniotic fibrous bands to float in the amniotic fluid and birth as the individual strands are small and hard to see on
potentially wrap around parts of the baby. Most commonly the ultrasound. Often the bands are detected indirectly because of
bands will get entangled with the baby's arms, legs, fingers, and the constrictions and swelling upon limbs, digits, etc.
toes, although sometimes the bands can wrap around the Misdiagnosis is also common, so if there are any signs of
baby's head or umbilical cord which can be life-threatening. The amniotic bands, further detailed ultrasound tests should be done
bands will partially constrict the blood flow in the affected to assess the severity. 3D ultrasound and MRI can be used for
appendage causing a deep groove in the baby's skin. more detailed and accurate diagnosis of bands and the resulting
Sometimes the constriction can be very severe causing damage/danger to the fetus.
amputation. Treatment
Natural History Treatment usually occurs after birth and where plastic
To explain the cause of ABS, there are two main and reconstructive surgery is considered to treat the resulting
theories. deformity. Plastic surgery ranges from simple to complex
depending on the extent of the deformity. Physical and
The amniotic band theory is that ABS occurs due to a occupational therapy may be needed long term.
partial rupture of the amniotic sac. This rupture involves only In rare cases, if diagnosed in utero, fetal surgery may be
the amnion; the chorion remains intact. Fibrous bands of the considered to save a limb which is in danger of amputation or
ruptured amnion float in the amniotic fluid and can encircle and other deformity. This typically would not be attempted if neither
trap some part of the fetus. Later, as the fetus grows but the vital organs nor the umbilical cord are affected. This operation
bands do not, the bands become constricting. This constriction has been able to be successfully performed on foetuses as
reduces blood circulation, hence causes congenital young as 22 weeks. The surgery took place at Melbourne's
abnormalities. In some cases a complete Monash Medical Centre in Australia and is believed to be the
"natural" amputation of a digit(s) or limb may occur before birth earliest surgery of its type, as surgeons usually hold off on
or the digit(s) or limbs may be necrotic (dead) and require operating until a mother is at least 28 weeks gestation. There
surgical amputation following birth. are also several facilities in the United States that have
The vascular disruption theory: Because the constricting performed successful amniotic band release surgery.
mechanism of the amniotic band theory does not explain the Prognosis
high incidence of cleft palate and other forms of cleft defects
 The prognosis depends on the location and severity of d-e) and just below, two additional lobes grow from each
the constricting bands. Every case is different and multiple side, which form the chin and lower lip; (Mandibular
bands may be entangled around the fetus. Prominence)
Bands which wrap around fingers and toes can result If these tissues fail to meet, a gap appears where
in syndactyly or amputations of the digits. In other instances, the tissues should have joined (fused). This may
bands can wrap around limbs causing restriction of movement happen in any single joining site, or
resulting in clubbed feet. In more severe cases, the bands can simultaneously in several or all of them. The
constrict the limb causing decreased blood supply and resulting birth defect reflects the locations and
amputation. Amniotic bands can also sometimes attach to the severity of individual fusion failures (e.g., from a
face or neck causing deformities such as cleft lip and palate. If small lip or palate fissure up to a completely
the bands become wrapped around the head or umbilical cord it malformed face).
can be life threatening for the fetus. The upper lip is formed earlier than the palate,
The number of cases of miscarriage that can be from the first three lobes named a to c above.
contributed to ABS is unknown, although it has been reported Formation of the palate is the last step in joining
that it may be the cause of 178 in 10,000 miscarriages. the five embryonic facial lobes, and involves the
back portions of the lobes b and c. These back
Cleft lip/palate portions are called palatal shelves, which grow
A cleft lip is a narrow opening along the upper lip that can towards each other until they fuse in the
extend all the way to the nostrils. The defect can be large or middle. This process is very vulnerable to multiple
small, on one side of the face (unilateral) or both (bilateral). toxic substances, environmental pollutants, and
Oftentimes cleft lip is accompanied by cleft palate, a defect in nutritional imbalance. The biologic mechanisms of
the roof of the mouth or the soft tissues at the back of the mutual recognition of the two cabinets, and the
mouth. Many cases of cleft lip present with other birth defects way they are glued together, are quite complex
that may or may not be obvious.This is a very treatable and obscure despite intensive scientific research.
condition and in most cases the cleft lip can be repaired with Genetic factors contributing to cleft lip and cleft
reconstructive surgery in early infancy, greatly improving the palate formation have been identified for
child's facial appearence. some syndromic cases, but knowledge about
Causes genetic factors that contribute to the more
The development of the face is coordinated by complex common isolated cases of cleft lip/palate is still
morphogenetic events and rapid proliferative expansion, and is patchy.
thus highly susceptible to environmental and genetic factors, Syndromic cases: The Van der Woude
rationalising the high incidence of facial malformations. During Syndrome is caused by a specific variation in the
the first six to eight weeks of pregnancy, the shape of the gene IRF6 that increases the occurrence of these
embryo's head is formed. Five primitive tissue lobes grow: deformities threefold. Another syndrome, Siderius X-
a) one from the top of the head down towards the future linked mental retardation, is caused by mutations in
upper lip; (Frontonasal Prominence) the PHF8 gene (OMIM 300263); in addition to cleft lip
b-c) two from the cheeks, which meet the first lobe to and/or palate, symptoms include facial dysmorphism and
form the upper lip; (Maxillar Prominence) mild mental retardation. In some cases, cleft palate is
caused by syndromes which also cause other
 problems. Stickler's Syndrome can cause cleft lip and family; anticonvulsant drugs; alcohol; cigarette use; nitrate
palate, joint pain, and myopia. Loeys-Dietz syndrome can compounds; organic solvents; parental exposure to lead; and
cause cleft palate or bifid uvula, hypertelorism, and aortic illegal drugs (cocaine, crack cocaine, heroin, etc).
aneurysm. Cleft lip/palate may be present in many Current research continues to investigate the extent to
different chromosome disorders including Patau which Folic acid can reduce the incidence of clefting.
Syndrome (trisomy 13).
Non-syndromic cases: Many genes associated with Congenital Limb Defects
syndromic cases of cleft lip/palate (see above) have been Congenital limb defects is a term used to describe any
identified to contribute to the incidence of isolated cases number of defects affecting the upper or lower limb. These
of cleft lip/palate. This includes in particular sequence defects may range in severity from mild to severe. In some
variants in the genes IRF6, PVRL1 and MSX1. The cases, such as syndactyly of the toes, the defects is often left
understanding of the genetic complexities involved in alone and the baby will grow up with no problems. Other cases
the morphogenesis of the midface, including molecular may require surgery or possibly a prosthesis (artificial limb).
and cellular processes, has been greatly aided by Some common classifications of limb defects are:
research on animal models, including of the Phocomelia - The limbs are smaller or much shorter than
genes BMP4, SHH, SHOX2, FGF10 and MSX1. normal.
If a person is born with a cleft, the chances of that person Polydactyly - Extra toes or fingers.
having a child with a cleft, given no other obvious factor, rises to Syndactyly - Commonly seen as "webbed" toes or fingers.
1 in 14. Many clefts run in families, even though in some cases Absent radius - The radius, one of the bones in the forearm, is
there does not seem to be an identifiable syndrome small or missing altogether causing the forearm to shorten and
present, possibly because of the current incomplete genetic curve.
understanding of midfacial development. Causes
Environmental influences may also cause, or interact with The cause of congenital limb defects is unknown. However, risk
genetics to produce, orofacial clefting. An example for how factors that may increase the likelihood of a congenital limb
environmental factors might be linked to genetics comes from defect include the following:
research on mutations in the gene PHF8 that cause cleft  conditions affecting the baby in the uterus during
lip/palate (see above). It was found that PHF8 encodes for development
a histone lysine demethylase, and is involved in epigenetic  exposures by the mother to chemicals or viruses while
regulation. The catalytic activity of PHF8 depends on pregnant
molecular oxygen, a fact considered important with respect to  specific medications
reports on increased incidence of cleft lip/palate in mice that
have been exposed to hypoxia early during pregnancy. In Classification
humans, fetal cleft lip and other congenital abnormalities have
 complete absence of the limb
also been linked to maternal hypoxia, as caused by e.g.
 failure of the portion of the limb to separate
maternal smoking, maternal alcohol abuse or some forms of
maternal hypertension treatment. Other environmental factors (commonly seen in fingers or toes)
that have been studied include: seasonal causes (such as  duplication (commonly seen as extra fingers or
pesticide exposure); maternal diet and vitamin intake; retinoids - toes)
which are members of the vitamin A
  overgrowth, the limb is much larger than the  prosthetics (artificial limbs)
normal limb  orthotics (splints or braces)
 undergrowth, the limb is much smaller than the  surgery
normal limb  rehabilitation (physical or occupational therapy)
 congenital constriction band syndrome - early
rupture of the amnion (inner membranes that Duodenal Atresia
cover the fetus in utero and contains the amnionic Duodenal atresia is a defect in which the duodenum, the
fluid) resulting in bands that may become
first part of the small intestine, has not developed correctly. Part
entangled in the extremities of the fetus, causing
of the duodenum is sealed shut and food and liquids cannot
immobilization, constrictions of the limbs,
amputations, and other deformities. pass. This condition is often associated with other congenital
Treatment defects. Surgical intervention is required to correct the duodenal
Specific treatment for congenital limb defects will blockage and allow the baby to digest food normally.
be determined by your child's physician based on:
 your child's age, overall health, and medical Hydrocephalus
history
Hydrocephalus is a condition in which there is excessive
 the extent of the condition
fluid accumulation in the brain. Cerebral spinal fluid is what
 the type of condition surrounds the brain and spinal cord and cushions them. When
 your child's tolerance for specific medications, there is too much cerebral spinal fluid it can build up in the
procedures, or therapies ventricles, or spaces, in the brain. This can cause pressure on
 expectations for the course of the condition the tissues of the brain as well as cause the baby's head to
 your opinion or preference enlarge.
Hydrocephalus is most often treated with a surgically placed
The overall goal for treatment of congenital limb shunt. The shunt diverts the cerebral spinal fluid away from the
defects is to provide the child with a limb that has brain and to another part of the body where the fluid can be
proper function and appearance. Treatment goals can safely and effectively absorbed.
vary for each child. Some goals may include the Early Symptoms
following:
 Eyes that appear to gaze downward
 promoting normal development
 Irritability
 discovering sense of independence
 Seizures
 encouraging self-care  Separated sutures
 improving cosmetic appearance  Sleepiness
 adaptation  Vomiting
 There are no standardized treatment protocols for Classification
congenital limb defects. Treatment options may
include:
 Hydrocephalus can be caused by impaired cerebrospinal Spina bifida is a condition which affects the vertebrae, or
fluid (CSF) flow, reabsorption, or excessive CSF production. backbones, and sometimes the spinal cord. 70% of spina bifida
 The most common cause of hydrocephalus is CSF cases are preventable by taking adequate amounts of folate
flow obstruction, hindering the free passage of cerebrospinal
vitamin during pregnancy.
fluid through the ventricular system and subarachnoid
space (e.g.,stenosis of the cerebral aqueduct or obstruction There are several forms of spina bifida. The mildest form
of the interventricular foramina - foramina of Monro is occulta, where the only visible evidence is a tuft of hair on the
secondary to tumors, hemorrhages, infections back. The next two forms are spina bifida with meningocele and
or congenital malformations). spina bifida with meningomyelocele. In these two cases a cyst-
 Hydrocephalus can also be caused by overproduction of like sac protrudes from the back, in the first case only containing
cerebrospinal fluid (relative obstruction) (e.g., papilloma of cerebral spinal fluid, but in meningomyelocele, the cyst contains
choroid plexus).
part of the spinal cord.
Based on its underlying mechanisms, hydrocephalus can be
classified into communicating and non- In the most severe form, spina bifida with myeloschiscis,
communicating (obstructive). Both forms can be the cyst is open and the spinal cord is exposed to the outside
either congenital or acquired. elements.
Treatment The defect usually can be repaired at birth if it is small
Hydrocephalus treatment is surgical. It involves the and isolated. Experimental surgery is also being done now while
placement of a ventricular catheter (a tube made of silastic), into the baby is still in the womb.
the cerebral ventricles to bypass the flow
Classification
obstruction/malfunctioningarachnoidal granulations and drain
the excess fluid into other body cavities, from where it can be Spina bifida occulta
resorbed. Most shunts drain the fluid into the peritoneal Occulta is Latin for "hidden." This is one of the mildest
cavity (ventriculo-peritoneal shunt), but alternative sites include forms of spina bifida.
the right atrium (ventriculo-atrial shunt), pleural In occulta, the outer part of some of the vertebrae are not
cavity (ventriculo-pleural shunt), and gallbladder. A shunt completely closed. The split in the vertebrae is so small that the
system can also be placed in the lumbar space of the spine and spinal cord does not protrude. The skin at the site of
have the CSF redirected to the peritoneal cavity (Lumbar- the lesion may be normal, or it may have some hair growing
peritoneal shunt). An alternative treatment for obstructive from it; there may be a dimple in the skin, alipoma, a dermal
hydrocephalus in selected patients is theendoscopic third sinus or a birthmark.
ventriculostomy (ETV), whereby a surgically created opening in Many people with the mildest form of this type of spina
the floor of the third ventricle allows the CSF to flow directly to bifida do not even know they have it, as the condition is
the basal cisterns, thereby shortcutting any obstruction, as asymptomatic in most cases. A systematic review
in aqueductal stenosis. This may or may not be appropriate of radiographic research studies found no relationship between
based on individual anatomy. spina bifida occulta and back pain. More recent studies not
included in the review support the negative findings.
However, other studies suggest spina bifida occulta is not
Spina Bifida always harmless. One study found that among patients with
back pain, severity is worse if spina bifida occulta is present.
Spina bifida cystica Many individuals with spina bifida will have an associated
In spina bifida cystica, a cyst protrudes through the abnormality of the cerebellum, called the Arnold Chiari II
defect in the vertebral arch. These conditions can be diagnosed malformation. In affected individuals the back portion of the
in utero on the basis of elevated levels of alpha-fetoprotein, after brain is displaced from the back of the skull down into the upper
amniocentesis, and by ultrasound imaging. Spina bifida cystica neck. In approximately 90 percent of the people with
may result in hydrocephalus and neurological deficits. myelomeningocele, hydrocephalus will also occur because the
Meningocele displaced cerebellum interferes with the normal flow
The least common form of spina bifida is a of cerebrospinal fluid.
posterior meningocele (or meningeal cyst). The myelomeningocele (or perhaps the scarring due to
In a posterior meningocele, the vertebrae develop normally, surgery) tethers the spinal cord. In some individuals this causes
however the meninges are forced into the gaps between the significant traction on the spinal cord and can lead to a
vertebrae. As the nervous system remains undamaged, worsening of the paralysis, scoliosis, back pain, or worsening
individuals with meningocele are unlikely to suffer long-term bowel and/or bladder function.
health problems, although there are reports of tethered cord. Signs and Symptoms
Causes of meningocele include teratoma and other tumors of Children with spina bifida often have hydrocephalus,
thesacrococcyx and of the presacral space, and Currarino which consists of excessive accumulation of cerebrospinal
syndrome, Bony defect with outpouching of meninges. fluid in the ventricles of the brain.
Myelomeningocele According to the Spina Bifida Association of America
In this, the most serious and common form, the unfused (SBAA), over 73 percent of people with spina bifida develop
portion of the spinal column allows the spinal cord to protrude an allergy to latex, ranging from mild to life-threatening. The
through an opening. The meningeal membranes that cover the common use of latex in medical facilities makes this a
spinal cord form a sac enclosing the spinal elements. Spina particularly serious concern. The most common approach to
bifida with myeloschisis is the most severe form of spina bifida avoid developing an allergy is to avoid contact with latex-
cystica. In this defect, the involved area is represented by a containing products such as examination gloves,
flattened, plate-like mass of nervous tissue with no overlying condoms, catheters, and many of the products used by dentists.
membrane. The exposure of these nerves and tissues make the Prevention
baby more prone to life-threatening infections. There is no single cause of spina bifida nor any known
The protruded portion of the spinal cord and the nerves way to prevent it entirely. However, dietary supplementation
which originate at that level of the cord are damaged or not with folic acid has been shown to be helpful in preventing spina
properly developed. As a result, there is usually some degree of bifida (see above). Sources of folic acid include whole grains,
paralysis and loss of sensation below the level of the spinal cord fortified breakfast cereals, dried beans, leaf
defect. Thus, the higher the level of the defect the more severe vegetables and fruits.
the associated nerve dysfunction and resultant paralysis. Folate fortification of enriched grain products has been
People may have ambulatory problems, loss of sensation, mandatory in the United States since 1998. The U.S. Food and
deformities of the hips, knees or feet and loss of muscle tone. Drug Administration, Public Health Agency of Canada and UK
Depending on the location of the lesion, intense pain may occur recommended amount of folic acid for women of childbearing
originating in the lower back, and continuing down the leg to the age and women planning to become pregnant is at least
back of the knee. 0.4 mg/day of folic acid from at least three months
beforeconception, and continued for the first 12 weeks of bladder. Such care is best begun immediately after birth. Most
pregnancy. Women who have already had a baby with spina affected individuals will require braces, crutches, walkers or
bifida or other type of neural tube defect, or are wheelchairs to maximize their mobility. As a general rule, the
taking anticonvulsantmedication should take a higher dose of 4– higher the level of the spina bifida defect the more severe the
5 mg/day. paralysis, but paralysis does not always occur. Thus, those with
Certain mutations in the gene VANGL1 are implicated as a risk low levels may need only short leg braces while those with
factor for spina bifida: these mutations have been linked with higher levels do best with a wheelchair, and some may be able
spina bifida in some families with a history of spina bifida. to walk unaided. Many will need to manage their urinary system
Pregnancy screening with a program of catheterization. Most will also require some
Neural tube defects can usually be detected during sort of bowel management program, though some may be
pregnancy by testing the mother's blood (AFP screening) or a virtually unaffected.
detailed fetal ultrasound. Spina bifida may be associated with
other malformations as in dysmorphic syndromes, often Patau Syndrome (Trisomy 13)
resulting in spontaneous miscarriage. However, in the majority
of cases spina bifida is an isolated malformation. Trisomies occur when there is a triplet of a specific
Genetic counseling and further genetic testing, such chromosome instead of the normal number of 2. The most
as amniocentesis, may be offered during the pregnancy as common trisomy is trisomy 21 or Down syndrome. In Patau
some neural tube defects are associated with genetic disorders syndrome there is an extra chromosome 13 resulting in multiple
such astrisomy 18. Ultrasound screening for spina bifida is and often severe physical and mental abnormalities. Some
partly responsible for the decline in new cases, because many physical characteristics are flattened facial features, malformed
pregnancies are terminated out of fear that a newborn might
and low-set ears, cleft lip and/or palate, prominent heels, and
have a poor future quality of life. With modern medical care, the
quality of life of patients has greatly improved. genital malformations. Often there are problems with the
Treatment nervous system, including forebrain development, spinal cord
There is no known cure for nerve damage due to spina development, mental retardation, and seizures. Vision and eye
bifida. To prevent further damage of the nervous tissue and to problems are common, as well as respiratory and heart defects.
prevent infection, pediatric neurosurgeons operate to close the Approximately 45% of Patau syndrome babies die within the
opening on the back. During the operation for spina bifida first month of life, while the number increases to 70% in the first
cystica, the spinal cord and its nerve roots are put back inside
6 months.
the spine and covered with meninges. In addition, a shunt may
Causes
be surgically installed to provide a continuous drain for the
cerebrospinal fluid produced in the brain, as happens Most cases of Patau's syndrome result from trisomy 13,
with hydrocephalus. Shunts most commonly drain into which means each cell in the body has three copies of
the abdomen. However, if spina bifida is detected during chromosome 13 instead of the usual two copies. A small
pregnancy, then open fetal surgery can be performed. percentage of cases occur when only some of the body's cells
Most individuals with myelomeningocele will need have an extra copy, resulting in a mixed population of cells with
periodic evaluations by specialists including orthopedists to a differing number of chromosomes; such cases are called
check on their bones and muscles, neurosurgeons to evaluate mosaic Patau.
the brain and spinal cord and urologists for the kidneys and
 Patau syndrome can also occur when part of detachment, sensory nystagmus, cortical visual loss,
chromosome 13 becomes attached to another chromosome and optic nerve hypoplasia
(translocated) before or at conception. Affected people have two  meningomyelocele (a spinal defect)
copies of chromosome 13, plus extra material from  Musculoskeletal and cutaneous
chromosome 13 attached to another chromosome. With a  polydactyly (extra digits)
translocation, the person has a partial trisomy for chromosome  low-set ears
13 and often the physical signs of the syndrome differ from the  prominent heel
typical Patau syndrome.  deformed feet known as rocker-bottom feet
Most cases of Patau syndrome are not inherited, but
 omphalocele (abdominal defect)
occur as random events during the formation of reproductive
cells (eggs and sperm). An error in cell division called non-  abnormal palm pattern
disjunctioncan result in reproductive cells with an abnormal  overlapping of fingers over thumb
number of chromosomes. For example, an egg or sperm cell  cutis aplasia (missing portion of the skin/hair)
may gain an extra copy of the chromosome. If one of these  cleft palate
atypical reproductive cells contributes to the genetic makeup of  Urogenital
a child, the child will have an extra chromosome 13 in each of  abnormal genitalia
the body's cells. Mosaic Patau syndrome is also not inherited. It  kidney defects
occurs as a random error during cell division early  Other
in fetal development.  heart defects (ventricular septal defect)
Patau syndrome due to a translocation can be inherited.  single umbilical artery
An unaffected person can carry a rearrangement of genetic Treatment
material between chromosome 13 and another chromosome. Medical management of children with Trisomy 13 is
This rearrangement is called a balanced translocation because planned on a case-by-case basis and depends on the individual
there is no extra material from chromosome 13. Although they circumstances of the patient. Treatment of Patau syndrome
do not have signs of Patau syndrome, people who carry this focuses on the particular physical problems with which each
type of balanced translocation are at an increased risk of having child is born. Many infants have difficulty surviving the first few
children with the condition. days or weeks due to severe neurological problems or
Clinical Manifestations complex heart defects. Surgery may be necessary to repair
Of those fetuses that do survive to gestation and heart defects or cleft lip and cleft palate. Physical, occupational,
subsequent birth, common abnormalites include: and speech therapy will help individuals with Patau syndrome
 Nervous system reach their full developmental potential.
 mental & motor challenged
 microcephaly Down Syndrome (Trisomy 21)
 holoprosencephaly (failure of the forebrain to
Down syndrome is a chromosomal disorder which
divide properly).
causes physical and intellectual delays in development and
 structural eye defects,
including microphthalmia, Peters anomaly, cataract, iris occurs when there are 3 chromosome 21's, resulting in 47 total
and/or fundus (coloboma), retinal dysplasia or retinal chromosomes instead of the normal 46. The most common
clinical features are short neck and flat face, upward slanting Two types of prenatal tests are used to detect Down
eyes, low muscle tone and a single crease across the palm of syndrome in a fetus: screening tests and diagnostic tests.
the hand. Congenital heart defects accompany Down syndrome Screening tests estimate the risk that a fetus has DS; diagnostic
tests can tell whether the fetus actually has the condition.
in about 40% of the cases. Vision and hearing problems are
Screening tests are cost-effective and easy to perform.
also common. But because they can't give a definitive answer as to whether a
Cause baby has DS, these tests are used to help parents decide
Normally, at the time of conception a baby inherits whether to have more diagnostic tests.
genetic information from its parents in the form of 46 Diagnostic tests are about 99% accurate in detecting
chromosomes: 23 from the mother and 23 from the father. In Down syndrome and other chromosomal abnormalities.
most cases of Down syndrome, a child gets an extra However, because they're performed inside the uterus, they are
chromosome 21 — for a total of 47 chromosomes instead of 46. associated with a risk of miscarriage and other complications.
It's this extra genetic material that causes the physical features For this reason, invasive diagnostic testing previously
and developmental delays associated with DS. was generally recommended only for women age 35 or older,
Although no one knows for sure why DS occurs and those with a family history of genetic defects, or those who've
there's no way to prevent the chromosomal error that causes it, had an abnormal result on a screening test.
scientists do know that women age 35 and older have a However, the American College of Obstetrics and
significantly higher risk of having a child with the condition. At Gynecology (ACOG) now recommends that all pregnant women
age 30, for example, a woman has about a 1 in 900 chance of be offered screening with the option for invasive diagnostic
conceiving a child with DS. Those odds increase to about 1 in testing for Down syndrome, regardless of age.
350 by age 35. By 40 the risk rises to about 1 in 100. If you're unsure about which test, if any, is right for you,
Medical Problems Associated With DS your doctor or a genetic counselor can help you sort through the
While some kids with DS have no significant health pros and cons of each.
problems, others may experience a host of medical issues that Screening tests include:
require extra care. For example, almost half of all children born • Nuchal translucency testing. This test, performed
with DS will have a congenital heart defect. between 11 and 14 weeks of pregnancy, uses ultrasound to
Kids with Down syndrome are also at an increased risk of measure the clear space in the folds of tissue behind a
developing pulmonary hypertension, a serious condition that developing baby's neck. (Babies with DS and other
can lead to irreversible damage to the lungs. All infants with chromosomal abnormalities tend to accumulate fluid there,
Down syndrome should be evaluated by a pediatric cardiologist. making the space appear larger.) This measurement, taken
Approximately half of all kids with DS also have problems together with the mother's age and the baby's gestational
with hearing and vision. Hearing loss can be related to fluid age, can be used to calculate the odds that the baby has
buildup in the inner ear or to structural problems of the ear itself. DS. Nuchal translucency testing is usually performed along
Vision problems commonly include amblyopia (lazy eye), near- with a maternal blood test.
or farsightedness, and an increased risk of cataracts. Regular • The triple screen or quadruple screen (also called the
evaluations by an audiologist and an ophthalmologist are multiple marker test). These tests measure the quantities of
necessary to detect and correct any problems before they affect normal substances in the mother's blood. As the names
language and learning skills. imply, triple screen tests for three markers and quadruple
Prenatal Screening and Diagnosis screen includes one additional marker and is more
 accurate. These tests are typically offered between 15 and which means that people with achondroplasia have an average-
18 weeks of pregnancy. sized torso with small arms and legs. It can be caused by a
• Integrated screen. This uses results from first trimester spontaneous gene mutation or it can be inherited from a parent
screening tests (with or without nuchal translucency) and
who has achondroplasia.
blood tests with second trimester quad screen to come up
with the most accurate screening results. People with achondroplasia have relatively short upper arms
• A genetic ultrasound. A detailed ultrasound is often and upper legs. They also may have shortened hands and
performed at 18 to 20 weeks in conjunction with the blood stubby fingers, a large head with a prominent forehead and a
tests, and it checks the fetus for some of the physical traits flattened bridge of the nose, and sometimes reduced muscle
abnormalities associated with Down syndrome. tone. Usually the average full-grown height for someone with
Diagnostic tests include: this disorder is around 4 feet.
• Chorionic villus sampling (CVS). CVS involves taking a
Causes
tiny sample of the placenta, either through the cervix or
through a needle inserted in the abdomen. The advantage Achondroplasia is one of a group of disorders called
of this test is that it can be performed during the first chondrodystrophies or osteochondrodysplasias.
trimester, between 8 and 12 weeks. The disadvantage is Achondroplasia may be inherited as an autosomal
that it carries a slightly greater risk of miscarriage as dominant trait, which means that if a child gets the defective
compared with amniocentesis and has other complications. gene from one parent, the child will have the disorder. If one
• Amniocentesis. This test, performed between 15 and 20
parent has achondroplasia, the infant has a 50% chance of
weeks of pregnancy, involves the removal of a small inheriting the disorder. If both parents have the condition, the
amount of amniotic fluid through a needle inserted in the infant's chances of being affected increase to 75%.
abdomen. The cells can then be analyzed for the presence However, most cases appear as spontaneous mutations.
of chromosomal abnormalities. Amniocentesis carries a This means that two parents without achondroplasia may give
small risk of complications, such as preterm labor and birth to a baby with the condition.
miscarriage. Symptoms
• Percutaneous umbilical blood sampling The typical appearance of achondroplastic dwarfism can be
(PUBS). Usually performed after 20 weeks, this test uses a seen at birth. Symptoms may include:
needle to retrieve a small sample of blood from the umbilical • Abnormal hand appearance with persistent space
cord. It carries risks similar to those associated with between the long and ring fingers
amniocentesis. • Bowed legs
After a baby is born, if the doctor suspects DS based on the • Decreased muscle tone
infant's physical characteristics, a karyotype — a blood or tissue • Disproportionately large head-to-body size difference
sample stained to show chromosomes grouped by size, • Prominent forehead (frontal bossing)
number, and shape — can be performed to verify the diagnosis. • Shortened arms and legs (especially the upper arm and
thigh)
• Short stature (significantly below the average height for a
Achondroplasia person of the same age and sex)
Achondroplasia, a form of dwarfism, is a bone growth • Spinal stenosis
abnormality. This disorder is considered a short-limb dysplasia • Spine curvatures called kyphosis and lordosis
Exams and Tests The deformities can be remembered using
During pregnancy, a prenatal ultrasound may show the mnemonic, "InAdEquate" for Inversion, Adduction
excessive amniotic fluid surrounding the unborn infant. and Equinus.
Examination of the infant after birth shows increased Causes
front-to-back head size. There may be signs of hydrocephalus There are different causes for clubfoot depending on
("water on the brain"). what classification it is given. Structural TEV is caused
X-rays of the long bones can reveal achondroplasia in by genetic factors such as Edwards syndrome, a genetic defect
the newborn. with three copies of chromosome 18. Growth arrests at roughly
Treatment 9 weeks and compartment syndrome of the affected limb are
There is no specific treatment for achondroplasia. also causes of Structural TEV. Genetic influences increase
Related abnormalities, including spinal stenosis and spinal cord dramatically with family history. It was previously assumed that
compression, should be treated when they cause problems. postural TEV could be caused by external influences in the final
Prognosis trimester such as intrauterine compression
People with achondroplasia seldom reach 5 feet in fromoligohydramnios or from amniotic band syndrome.
height. Intelligence is in the normal range. Infants who receives However, this is countered by findings that TEV does not occur
the abnormal gene from both parents do not often live beyond a more frequently than usual when the intrauterine space is
few months. restricted.Breech presentation is also another known cause.TEV
Prevention occurs with some frequency in Ehlers Danlos Syndrome and
Genetic counseling may be helpful for prospective some other connective tissue disorders. TEV may be associated
parents when one or both have achondroplasia. However, with other birth defects such as spina bifida cystica.
because achondroplasia most often develops spontaneously, Treatment
prevention is not always possible. Clubfoot is treated with manipulation by
podiatrists, physiotherapists, orthopedic surgeons, specialist
Ponseti nurses, or orthotists by providing braces to hold the feet
Clubfoot in orthodox positions, serial casting, or splints called knee ankle
Clubfoot refers to a condition in which the baby's foot is turned
foot orthoses (KAFO). Other orthotic options include Dennis-
inward and downward at birth. It can be mild or severe, and can
Brown bars with straight last boots, ankle foot orthoses and/or
affect one or both feet. In many cases, the defect can be
custom foot orthoses (CFO). In North America, manipulation is
corrected using casts on the childs's feet and legs. Some cases
followed by serial casting, most often by the Ponseti Method.
may require surgery; however, the outcome is usually excellent
Foot manipulations usually begin within two weeks of birth.
and the child will go on to live a normal healthy life.
Even with successful treatment, when only one side is affected,
Deformities
that foot may be smaller than the other, and often that calf, as
The deformities affecting joints of the foot occur at three
well.
joints of the foot to varying degrees. They are
Extensive surgery of the soft tissue or bone is not usually
 Inversion at subtalar joint
necessary to treat clubfoot; however, there are two minimal
 Adduction at talonavicular joint and
surgeries that may be required:
 Equinus at ankle joint
1. Tenotomy (needed in 80% of cases) is a release
(clipping) of the Achilles tendon - minor surgery- local
anesthesia
 2. Anterior Tibial Tendon Transfer (needed in 20% of Other related birth defects are rare in patients with
cases) - where the tendon is moved from the first ray gastroschisis.
(toe) to the third ray in order to release the inward Exams and Tests
traction on the foot. Physical examination of the infant is enough for the
Of course, each case is different, but in most cases health care provider to diagnose gastroschisis. The baby will
extensive surgery is not needed to treat clubfoot. Extensive have problems with movement and absorption in the gut,
surgery may lead to scar tissue developing inside the child's because the unprotected intestine is exposed to irritating
foot. The scarring may result in functional, growth and aesthetic amniotic fluid.
problems in the foot because the scarred tissue will interfere The mother may have shown signs of too much amniotic
with the normal development of the appendage. A child who has fluid (polyhydramnios). A prenatal ultrasound often identifies the
extensive surgery may require on average two additional gastroschisis.
surgeries to correct the issues presented above. Treatment
In stretching and casting therapy the doctor changes the If gastroschisis is found before birth, the mother will need
cast multiple times over a few weeks, gradually stretching special monitoring to make sure her unborn baby remains
tendons until the foot is in the correct position of external healthy. Plans should be made for careful delivery and
rotation. The heel cord is released (percutaneous tenotomy) and immediate management of the problem after birth.
another cast is put on, which is removed after three weeks. To Treatment for gastroschisis is surgery to repair the
avoid relapse a corrective brace is worn for a gradually reducing defect. A surgeon will put the bowel back into the abdomen and
time until it is only at night up to four years of age. close the defect, if possible. If the abdominal cavity is too small,
a mesh sack is stitched around the borders of the defect and the
Gastroschisis edges of the defect are pulled up. Over time, the herniated
Gastroschisis occurs when the intestines are displaced intestine falls back into the abdominal cavity, and the defect can
outside of the abdomen through a defect in the abdominal wall. be closed.
This condition is very similiar to an omphalocele, which is when Other treatments for the baby include nutrients by IV and
the intestines are displaced out and into the umbilical cord. antibiotics to prevent infection. The baby's temperature must be
These conditions can be surgically repaired at birth. As long as carefully controlled, because the exposed intestine allows a lot
the bowel is not damaged, the outcome for the surgery is very of body heat to escape.
good. Prognosis
Causes The child has a good chance of recovering if the
Gastroschisis is a type of hernia. Hernia means "rupture.” abdominal cavity is large enough. A very small abdominal cavity
Babies with this condition have a hole in the abdominal wall, may result in complications that require additional surgery.
usually on the right side of the umbilical cord. The child's
intestines usually stick out (protrude) through the hole. Hypospadias
The condition looks similar to an omphalocele. An Hypospadias is an abnormality in the development of the
omphalocele, however, is a birth defect in which the infant's urethra, the tube that carries urine, in the penis. Normally the
intestine or other abdominal organs stick out of the belly button urethra extends the full length of the penis and its opening is at
area and are covered with a membrane. the glans or tip of the penis. With hypospadias, however, the
opening can be anywhere along a line running down the
underside of the penis called the urethral groove. In the majority It is surgically corrected, with resection of any fistula
of the cases, first degree hypospadias, the opening is on the and anastomosis of any discontinuous segments. Surgical
glans and these cases are the least severe. In the more severe repair is associated with complications, including
cases the opening is on the shaft (second degree) or perineum  Stricture, due to gastric acid erosion of the shortened
(third degree), and can often involve other complications. esophagus.
Hypospadias is almost always surgically corrected in infancy.  Leak of contents at the point of anastomosis.
 Recurrence of fistula.
Tracheoesophageal fistula
A fistula is a tube. The esophagus is a tube that goes to Edwards Syndrome (Trisomy 18)
the stomach and the trachea is a tube that goes to the lungs. Trisomies occur when there is a triplet of a specific
Normally these two tubes do not connect but when a baby has a chromosome instead of the normal number of 2. The most
tracheoesophageal fistula, there is a tube connecting the two. common trisomy is trisomy 21 or Down syndrome. In Edwards
This can cause problems with feeding and even breathing in syndrome, or trisomy 18, there are 3 chromosome 18's. Patients
newborns and needs to be corrected. with trisomy 18 can range from mildly to severely affected.
Causes Some characteristics of this syndrome are clenched hands,
• Although no definite cause exists for congenital TEFs, an shield chest with short sternum, short neck, and small jaw.
association with trisomies 18, 21, and 13 has been Heart defects are typical of trisomy 18, including ventricular
reported. septal defects, atrial septal defects, and coarctation of the
• Causes of acquired TEFs include iatrogenic injury, blunt aorta. Also common are omphaloceles (when a portion of the
chest or neck trauma, prolonged mechanical ventilation intestinal tract is located outside of the body) and kidney
via endotracheal or tracheostomy tube, and excessive problems.
tube cuff pressure in patients ventilated for lung disease. Causes
Spigel et al investigated the development of TEFs in Trisomy 18. Majority of Edward's syndrome falls in this category.
patients with small-cell and non-small-cell lung cancer. In a situation, where all cells of individual contains additional
They reported their findings from 2 small, independent chromosome 18, is known as trisomy 18.
phase II clinical trials in which patients were administered Symptoms
bevacizumab combined with chemotherapy and • Growth Deficiency,
radiation.3 Both trials were closed early for safety • Abnormal skull shape and facial features,
reasons. However, the data suggested an association • Clenched hands,
between the use of bevacizumab and chemoradiotherapy • Rocker bottom feet,
and a relatively high incidence of TEFs in the settings of • Cardiac and renal abnormalities
small-cell and non-small-cell lung cancer. Treatments
Clinical Presentation There is no specific and known treatment for Edward's
Tracheoesophageal fistula is suggested in a newborn by Syndrome. The symptoms caused by Edward's syndrome are
copious salivation associated with choking, coughing, vomiting, also manageable up to some extent.
and cyanosis coincident with the onset of feeding. A fistula may • Edward's syndrome may cause breathing and feeding
also be a the cause of polyhydramnios while in utero. difficulties and if proper assistance is offered to these
Treatment
 babies, some of the babies may overcome these initial Other Effects Turner Syndrome Can Have
difficulties. A number of other health problems occur more often in
• Some children may have heart problem and difficulty in girls with Turner syndrome, including kidney problems, high
gaining weight. blood pressure, heart problems, overweight, hearing
• A perfect nutritional diet may be suitable for these difficulties, diabetes, andthyroid problems. Some girls with the
children. condition may experience learning difficulties, particularly in
• The survival rate of infants having Edward's syndrome is math. Many have a difficult time with tasks that require skills
extremely low. such as map reading or visual organization.
• Almost half the babies die before birth and a large In addition to short stature and lack of sexual
percentage of infant's dies within one year of birth. development, some of the other physical features commonly
• Most of the deaths are caused by heart abnormalities seen in girls with Turner syndrome are:
and apnea. • a "webbed" neck (extra folds of skin extending from the
• There are some reported cases of children living above tops of the shoulders to the sides of the neck)
10 years of age. • a low hairline at the back of the neck
• drooping of the eyelids
Turner Syndrome • differently shaped ears that are set lower on the sides of
Turner syndrome is a genetic defect in which one of the the head than usual
• abnormal bone development (especially the bones of the
two sex chromosomes is missing or defective. This disease
hands and elbows)
affects 1 in 2500 live female births each year. The • a larger than usual number of moles on the skin
characteristics of Turner syndrome are multiple and vary widely • edema or extra fluid in the hands and feet
from patient to patient. Most all individuals affected by this Because Turner syndrome can affect how a girl looks
syndrome have short stature, usually growing to an adult height and develops, some girls may have problems with body image
of around 4 feet 8 inches. Other common characteristics in or self-esteem.
appearance are a short, often webbed neck and low-set ears. People with TS are all different. Some may have many
physical differences and symptoms, whereas others experience
Hands and feet may be swollen or puffy at birth and there may
only a few medical problems. With early and appropriate
be the presence of colored spots on the skin. The loss of medical care and ongoing support, most people with TS can
ovarian function is common early in childhood, meaning they will lead normal, healthy, and productive lives.
not enter puberty at the normal age, if ever. Some girls may Diagnosing Turner Syndrome
have some breast development and begin menstruating but Girls with Turner syndrome are usually diagnosed either
they normally cease development and menstruation within a few at birth or around the time they might be expected to go through
years. There are some heart defects that may occur along with puberty. If a baby girl has some of the signs of Turner
syndrome, a doctor will usually order a special blood test called
Turner syndrome, such as coarctation of the a karyotype. The test counts the number of chromosomes and
aorta and bicuspid aortic valve. Osteoporosis is a common can identify any that are abnormally shaped or have missing
development with Turner syndrome patients, as well as type II pieces. In some cases, there are no recognizable signs that a
diabetes and kidney problems. girl has the condition until she reaches the age at which she
would normally go through puberty.
 If the karyotype blood test reveals that a girl has Turner pregnancy to term and deliver a baby through the normal birth
syndrome, her doctor may order additional tests to check for process.
problems with the kidneys, heart, hearing, and other problems Living With Turner Syndrome
that are often associated with Turner syndrome. Although people with Turner syndrome may have certain
Treating Turner Syndrome learning difficulties, the majority are able to attend regular
Because Turner syndrome is a condition that is caused school and classes and are generally able to:
by a chromosomal abnormality, there's no specific cure.
However, scientists have developed a number of treatments • write well
that can help correct some of the problems associated with the • learn well by hearing
condition — such as growth problems — and researchers are • memorize information as well as others
constantly looking into new forms of treatment. • develop good language skills
If you have Turner syndrome, you know that it can affect you in
Growth hormone treatment can improve growth and influence a several ways. But it's only a small part of your total physical,
girl's final adult height. In fact, in many cases, the treatment can emotional, and intellectual self.
help many girls with Turner syndrome reach a final height in the Here are some suggestions that can help you cope:
average range, especially if treatment is started early enough in • Join a support group for girls with Turner syndrome. Ask
childhood. your doctor or parents for more information or for help
finding a Turner Syndrome Society chapter in your area.
Another treatment for Turner syndrome is estrogen • Stay active in sports or hobbies that you enjoy.
replacement, which helps the girl develop the physical changes • Consider doing volunteer work. Helping other people can
of puberty, including breast development and menstrual periods. boost your self-esteem and your confidence, too.
This treatment is often started when a girl reaches about age 12 • Consider talking to a professional therapist. A qualified
or 13. counselor or other mental health professional can help you
build your self-esteem and address your concerns about
living with Turner syndrome. Discuss this with your parents
And a technique called in vitro fertilization can make it possible if you think you might need help.
for some women with Turner syndrome to become pregnant. A • Keep a journal or diary in which you can record your
donor egg can be used to create an embryo, which is then put thoughts and feelings about the challenges you're dealing
into the uterus (womb) of the woman with Turner syndrome. with.
With proper supportive care, the woman can carry the • Talk to your parents or school counselor if you are having
problems at school.