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