Let’s Talk about Congenital Anomalies – III

Screening includes obtaining family histories and carrier screening, and is particularly valuable in countries where consanguineous marriage is common.
Let’s Talk about Congenital Anomalies – III
"Preconception screening can be useful to identify those at risk for specific disorders or at risk of passing a disorder onto their children." [Representational image] Special arrangement

For the past two weeks, we have been discussing the causes, presentation and implications of genetic anomalies.

However, it is important to get the right diagnosis and right intervention for any case. Remember, each case is different and would require a tailored approach by an expert or a group of experts.


Early detection and screening

Health care before and around the time of conception (preconception and peri-conception) includes basic reproductive health practices, as well as medical genetic screening and counselling. Screening can be conducted during the 3 periods listed:

Preconception screening can be useful to identify those at risk for specific disorders or at risk of passing a disorder onto their children. Screening includes obtaining family histories and carrier screening, and is particularly valuable in countries where consanguineous marriage is common.

Peri-conception screening: maternal characteristics may increase risk, and screening results should be used to offer appropriate care, according to risk. This may include screening for young or advanced maternal age, as well as screening for use of alcohol, tobacco or other risks.

Ultrasound can be used to screen for Down syndrome and major structural abnormalities during the first trimester and for severe foetal anomalies during the second trimester.

Maternal blood can be screened for placental markers to aid in prediction of risk of chromosomal abnormalities or neural tube defects, or for free fetal DNA to screen for many chromosomal abnormalities.

Diagnostic tests such as chorionic villus sampling and amniocentesis can be used to diagnose chromosomal abnormalities and infections in women at high risk.

Neonatal screening includes clinical examination and screening for disorders of the blood, metabolism and hormone production.

Screening for deafness and heart defects, as well as early detection of congenital anomalies, can facilitate life-saving treatments and prevent progression towards some physical, intellectual, visual, or auditory disabilities.

In some countries, babies are routinely screened for abnormalities of the thyroid or adrenal glands before discharge from the maternity unit.

Newborn screenings check an infant’s health immediately after birth. Some congenital anomalies may only be apparent at this stage. Other medical conditions, such as a heart defect, may only appear much later in life.

If there is any suspicion of ananomaly, it is imperative to advise the parents for further diagnostic tests.

Prenatal tests check the health of a pregnant woman and the developing fetus.

These tests include:

non-invasive prenatal screening

a nuchal translucency ultrasound scan

the quad screen

A screening test shows either a normal or an abnormal result. The latter may indicate a problem. However, a test may give an abnormal result even if nothing is wrong.

If a screening test reveals a potential problem, diagnostic tests can offer more information. For example, a high resolution ultrasound can look in more detail at the fetus. A cleft lip, limb anomalies, and heart defects may all show up on an ultrasound.

A doctor may also test a small piece of placenta or amniotic fluid. This test looks for genetic or chromosome disorders, such as Down syndrome.


Some minor congenital anomalies do not need treatment.

Often, children with birth defects need a variety of services and may need to see several specialists. The primary health care provider, usually a pediatrician or developmental pediatrician can coordinate the special care that the child needs.

Treatment varies depending on the defect in question. The best outcomes are achieved by adopting a holistic, multidimensional approach. This includes various treatment approaches;


Physical therapy is often the first step in treating cerebral palsy. It can help improve motor skills and can prevent movement problems from getting worse over time.

Physical therapy implements strength and flexibility exercises, heat treatment, massages and special equipment to give children with cerebral palsy more independence.

A lot of advances have been made in this field and approaches like NDT (Neuro-Developmental Therapy), CIMT (Constraint Induced Movement Therapy), Robotic therapy show very promising results.

Benefits of Physical Therapy for Cerebral Palsy

Physical therapy can improve:






Pain management



Overall health


Occupational therapy helps people develop or recover the skills needed to lead independent, satisfying lives. The “occupation” in occupational therapy does not refer to one’s profession. Rather, it refers to the everyday activities that give life meaning.

For a child, these meaningful activities include playing and learning. Pediatric occupational therapy focuses on improving the child’s ability to play and learn, which are important for development and becoming independent.

For children with cerebral palsy, occupational therapy can help with muscle and joint coordination issues — issues that can make everyday tasks difficult. Some of these tasks include eating, brushing teeth and bathing. Occupational therapy can help to improve physical, cognitive and social abilities, as well as fine motor skills and posture. This therapy can also help address difficulties with processing sensory information.


Speech disorders are common among those with cerebral palsy. In fact, a 2012 study conducted by Swedish researchers found that speech problems affect more than half of all children with cerebral palsy.

Some children with cerebral palsy have difficulty controlling the muscles in their face, throat, neck and head. This can lead to troubles with speech, chewing and swallowing. It can also cause drooling and affect overall ability to interact and learn. Those who also have difficulty hearing may have a hard time understanding spoken language.

Speech and language therapy seek to improve a child’s speech and communication by strengthening the muscles used for speech, increasing oral motor skills and by improving their understanding of speech and language. It also can help with swallowing disorders, like dysphagia.

Benefits of Speech Therapy

Speech therapy can be very beneficial for children with cerebral palsy.

As children improve their speech and communication, they are better able to express their needs, share their thoughts and interact with others.

Speech therapy can help with the following:




Sound and word formation



Language and vocabulary development

Speech volume

Word comprehension

Word-object association

Breath support and control



Speech muscle coordination and strength

The benefits of speech therapy go beyond improving a child’s ability to understand and use language. Communication is very important to other areas of development, like cognitive development and social and emotional development. As the child learns to better express themselves, the benefits can be seen in many other aspects of their life and development.


The medication prescribed depends on the diagnosis. Common classes of medications prescribed for children with cerebral palsy include:



Anti-inflammatory drugs

Muscle relaxants


Nerve block Botox




Severe structural anomalies often need surgery shortly after birth and some conditions require them later in life or in stages.

The most common conditions requiring surgery are Congenital Heart Defects, Cleft Lip and palate,spina bifida, gastrochisis, diaphragmatic hernia, corrective surgeries in musculoskeletal abnormalities.


Assistive technology (AT) is any item, piece of equipment, software program, or product system that is used to increase, maintain, or improve the functional capabilities of persons with disabilities.

AT can be low-tech: communication boards made of cardboard or fuzzy felt.

AT can be high-tech: special-purpose computers.

AT can be hardware: prosthetics, mounting systems, and positioning devices.

AT can be computer hardware: special switches, keyboards, and pointing devices.

AT can be computer software: screen readers and communication programs.

AT can be inclusive or specialized learning materials and curriculum aids.

AT can be specialized curricular software.

ORTHOTICS AND PROSTHTICS are an important type of assistive devices.— wheelchairs, walkers, braces, power lifts, pencil holders, eye-gaze and head trackers.

Assistive technology helps people who have difficulty speaking, typing, writing, remembering, pointing, seeing, hearing, learning, walking, and many other things. Different disabilities require different assistive technologies.


Genetic counselling is an option for prospective parents and caregivers who have concerns about congenital anomalies. A genetic counsellor collects information on their personal and family history and uses this to predict the likelihood of a genetic condition. They can then offer advice, support, and medical treatment.

As the child grows, his or her needs keep changing hence each child deserves a dynamic and custom-made rehabilitation plan so to give him/her the maximum possible level of FUNCTIONAL INDEPENDENCE which remains the purpose and aim of the entire rehabilitation process.

The author is Physiotherapist, In-charge PMRD, Khyber Medical Institute

Disclaimer: The views and opinions expressed in this article are the personal opinions of the author.

The facts, analysis, assumptions and perspective appearing in the article do not reflect the views of GK.

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