Various structural anomalies (anomaly = abnormal structural
feature) are found in approximately 3-5% of newborn babies. With the developing
technology, it is sometimes possible to detect anomalies in the early stages,
and it is possible to terminate the pregnancy without allowing babies with
anomalies incompatible with life to grow more.
Many babies
with congenital disorders have no risk factors. Still, the risk rises in the
presence of some factors:
- Family or personal congenital history
- Congenital disorders in previous children
- Use of certain drugs during pregnancy formation
- Pregnancies above 35 years old
However, it is both impossible and unnecessary to detect all
problems. Because an important part of congenital anomalies are correctable
problems that do not cause any negative. The basic principle in ultrasonography
is to detect anomalies incompatible with life as early as possible, thus
ensuring that the expectant mother and her family wear as little as possible in
every sense.
SOME
IMPORTANT CONGENITAL ANOMALIES
Diaphragmatic
Hernia: It is a condition where organs in the abdominal cavity
herniate into the thoracic cavity due to a defect in the diaphragm that
separates the abdominal and thoracic cavities. The weight of the defect
determines the size of the abdominal organs passing through the chest cavity.
it is likely to be with many congenital anomalies. Almost all anomalies of the
nervous system, problems of the skeletal system occur with almost all of the
genital system and kidney bladder anomalies. In mild cases, life without
sequela after surgery may be possible.
Congenital
Cystic Adenoid Malformation: It is a disease that occurs with
the presence of cysts that do not have normal anotomy in the lungs. Often the
diagnosis is made after birth and can be treated surgically. If cystic adenoid
malformation is detected on ultrasonography, the development is followed by
serial ultrasonography. When the first signs of fetal hydrops appear, delivery
should be performed and surgical treatment should be applied.
NERVOUS
SYSTEM ANOMALIES
While some of the anomalies that occur in the central nervous
system are incompatible with life, some may be able to treat postpartum.
Hydrocephalus is a
condition of increased cerebrospinal fluid (CSF) in the cavities in the brain.
The incidence is considered between 0.3-0.5 per thousand. Hydrocephalus can
occur for a variety of reasons, and in nearly half of cases there are other
anomalies to the nervous system and other systems. It is detected by the
expansion of the lateral ventricles on ultrasonography.
Holoprosencephaly: There are
severe developmental disorders in the brain and eyes in general. It is
important to diagnose this anomaly, which is not compatible with life and
treatable, early. The family is recommended to terminate the pregnancy.
Aquaductal
Duct Stenosis (Aquaductal Stenosis): It occurs due to the inhibition of
circulation of cerebrospinal fluid described above, it constitutes the majority
of hydrocephalus. It may be due to infection, genetic causes, or tumoral
formations. It can also occur in later stages of pregnancy. Babies born with
this problem generally benefit from the Shunt operation that regulates CSF
circulation after birth.
Dandy
Walker Syndrome: An anomaly that affects the development of the
cerebellum and has a poor prognosis in general. The part of the cerebellum
called vermis cannot be traced and there is a significant enlargement in 4
ventricles. It is generally not possible to make a diagnosis before the week.
Some cases may not produce symptoms at birth, but in 75% of cases severe
hydrocephalus occurs until 3 years of age. Since it is not possible for these
babies to lead a normal life, termination of pregnancy is the most suitable
option when Dandy Walker malformation is detected.
Arnold
Chiari Malformation: It occurs as a result of the cerebellum displacement
towards the space called 'foramen magnum' in the lower part of the skull. It is
a severe anomaly. When detected, termination of pregnancy should be recommended.
Corpus
Callosum Agenesis: Corpus callosum is a structure that connects the two
halves of the brain. It provides coordination and nerve impulses to be
transmitted to both brain halves. It is not possible to detect in early
pregnancy since its formation occurs partially at a later stage.
Encephalocele: It is the
condition of the neural tissue hernia out of the openings that should not
normally be found in the skull bones. It is generally associated with other
anomalies. The prognosis of the table is determined by the size of the brain
tissue affected by the event.
-ANAL ATRESIA
-ANENCEPHALY
-CONGENITAL ANOMALIES
-DOWN SYNDROME (TRISOMY 21)
-ECHOGENIC INTRACARDIAC FOCUS
