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Layterms: fetal abnormalities and soft markers

 
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Nick Raine-Fenning
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Joined: 27 May 2006
Posts: 1852
Location: Nottingham

PostPosted: Sun Oct 22, 2006 11:59 am    Post subject: Layterms: fetal abnormalities and soft markers Reply with quote

We have been having great fun this weekend talking about how you tell patients about ultrasound markers and the diseases to which they relate Laughing

What I want you to do is to have a go at explaining the following in layterms (non-medical words):


Choroid plexus cysts

Renal pelvi-calyceal dilatation

Echogenic bowel

Echogenic focus in the heart

Single umbilical artery

Diaphragmatic hernia

'Soft marker'

Down syndrome

Holoprosencephaly

Ventriculomegaly

Spina bifida

Hypoplastic left ventricle

Anencepahly

Turner's syndrome

Patau's syndrome

Edward's syndrome

cystic hygroma


Shocked

That should keep you busy!!

Try and add the implications of the findings if you can.
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chandra



Joined: 21 Oct 2006
Posts: 6

PostPosted: Sun Oct 22, 2006 8:24 pm    Post subject: Reply with quote

Choroid plexus cysts - fluid trapped in the blood vessel (Choroid plexus) within ventricles in the brain

Renal pelvi-calyceal dilatation - excess fluid in centre of kidneys

Echogenic bowel - bowel looks bright on scan

Echogenic focus in the heart - bright spots in heart

Single umbilical artery- normally 2 aretries and one vein-this means one aretery is present

Diaphragmatic hernia- a defect or abnormal hole in a separating musle which allows tummy organs in to chest

'Soft marker' - ultrsound finding that increases risk of chromosomal abnormality

Down syndrome - genetic disorder of chromosome 21 with mental retardation and physical abnormalities

Holoprosencephaly - incomplete development of forebrain

Ventriculomegaly - enlargement of fluid filled spaces in brain (ventricles)

Spina bifida - failure of spine to close (split spine) exposing nerves

Hypoplastic left ventricle -underdeveloped lower left chamber of heart

Anencepahly-absence of largepart of brain and skull

Turner's syndrome - complete or partial absence of one of the x chromosomes in females

Patau's syndrome - abnormal chromosome 13 causing severe mental retardation and life threatening physical abnormalities

Edward's syndrome - abnormal chromosome 18 with life threatening abnormalities

cystic hygroma - swelling around head and neck due to malformation of lymphatics - which are small vessels draining fluid in to blood vessels in the neck
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chandra
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Nick Raine-Fenning
Course Director


Joined: 27 May 2006
Posts: 1852
Location: Nottingham

PostPosted: Mon Oct 23, 2006 9:29 am    Post subject: Reply with quote

chandra wrote:
Choroid plexus cysts - fluid trapped in the blood vessel (Choroid plexus) within ventricles in the brain


Quote:
Ventriculomegaly - enlargement of fluid filled spaces in brain (ventricles)


What's a ventricle doctor? That sounds nasty? Is the baby brain damaged?


Quote:
Renal pelvi-calyceal dilatation - excess fluid in centre of kidneys


Like it ... "Slightly swollen kidney due to excess fluid collected in the centre of the kidney".


Quote:
Single umbilical artery- normally 2 arteries and one vein-this means one artery is present


What's an artery doc? Is that bad? It sounds like the baby is going to die?


Quote:
Diaphragmatic hernia- a defect or abnormal hole in a separating muscle which allows tummy organs in to chest


Good ... "A defect or a hole in the muscle that normally separates the chest and tummy. This allows the contents of the tummy to be pressed into the chest. Some are small but some are quite large and allow a lot of bowel and even the stomach and liver to be pushed up. This can cause pressure problems in the chest and affect how the heart works. Unfortunately up to 40% of babies with this condition are abnormal in that their chromosomes, or genetic make up, are different.


Quote:
Holoprosencephaly - incomplete development of forebrain


What's the forebrain doc? Is my baby going to be retarded then? Can you tell how bad they will be affected?


Quote:
Turner's syndrome - complete or partial absence of one of the x chromosomes in females


Is that a problem doc?


Quote:
Cystic hygroma - swelling around head and neck due to malformation of lymphatics - which are small vessels draining fluid in to blood vessels in the neck


Too detailed ... do you need to mention the word lymphatic? Just say ... "A collection at the back of the neck due to the accumulation of fluid that is normally removed by the body. It can become quite large and cause problems with the baby's movement and swallowing. Unfortunately some of the babies with this problem are abnormal ... "see above)"


Good try - it is essential you avoid all medical terms. You also need to address the implications of each diagnosis / finding.

Have another go but use a new post for each condition.
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Nick Raine-Fenning
Course Director


Joined: 27 May 2006
Posts: 1852
Location: Nottingham

PostPosted: Mon Oct 23, 2006 9:33 am    Post subject: Reply with quote

chandra wrote:
Down syndrome - genetic disorder of chromosome 21 with mental retardation and physical abnormalities


I have to address this seperately as it is very important.

Please try to avoid the word retarded.

Please say ... "severe learning difficulties and problems with social integration"

I usually say something like ...

"In the case of Down syndrome all affected children have a low IQ and need special or additional educational input. However children with Down's are being increasingly included in mainstream schools. It is important that you aware however that some children with Down syndrome have severe learning difficulties and require full time care."


Smile
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aamera



Joined: 23 Oct 2006
Posts: 4

PostPosted: Mon Oct 23, 2006 5:35 pm    Post subject: layterms Reply with quote

just thought about another one;
bilateral talipes- baby's ankles tuened in such a way that thelegs face inwards
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Nick Raine-Fenning
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Posts: 1852
Location: Nottingham

PostPosted: Mon Oct 23, 2006 7:01 pm    Post subject: Reply with quote

Hi aamera and welcome to the Forum Smile

Talipes - had not thought about this.

I would say something like ...


Talipes is a deformity of the foot caused by misalignment of the bones in the front part of the foot. The foot is twsited out of shape as a result.

In the vast majority of cases (95% or more) the front half of the foot turns in and down (so called equinovarus) but it may be turned outwards (calcaneovalgus). Talipes equinovarus is often referred to as "club foot" and affects both feet in 50% of cases.

Talipes may be positional or structural. Positional talipes is caused by abnormal pressures compressing the foot while it's developing in the womb. The foot is often relatively flexible and can be manipulated back into a normal position.

Structural talipes is more complex and may reflect a combinaiton of fators including a genetic predisposition and when there is a shortage of fluid in the sac around the baby in the womb (so called oligohydramnios). The foot is often shortended and the calf muscles weakened making the foot relatively fixed and immobile.

It affects around 1 in 1,000 babies and for some unknown reason is twice as common in boys as girls. Talipes may run in families.

In many cases of positional talipes equinovarus and calcaneovalgus physiotherapy alone will suffice. Active treatment of resistant cases and those with structural talpies involves immediate splinting after birth and the subsequent serial changes of the plaster as the foot grows. Orthopaedic splints may also be used and are often applied at night. Unfortunately around 50% of babies do not respond to these measures and surgery is required after the child is 6 months old.

The vast majority of children do extremely well and are to lead a normal life and undertake physical activity.


Laughing
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Nick Raine-Fenning
Course Director


Joined: 27 May 2006
Posts: 1852
Location: Nottingham

PostPosted: Mon Oct 23, 2006 7:06 pm    Post subject: Reply with quote

Try and address the implications of the diagnosis / finding as well as the description.

This is what you are going to have to do after all!

Very Happy
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