TEALE FENNING

EMAK · Century Club Joined: 26 Nov 2006 Posts: 581

26 years old primigravida, she attend in ANC at 15 wks gestation, Booking US reveal skin odema of the fetus with pleural effusion, also the sonographer reveal the presence of cystic Hygroma.

A// What are the most likely cause of her condition[5 Marks]
B// What investigations you think that will help you to reach the diagnosis[5 Marks]
C// What are the key that you will follow in subsquent management [7 Marks]
D// What are the risk of recurrence[3 Marks]

EMAK · Century Club Joined: 26 Nov 2006 Posts: 581

Small Hints:
Cystic Hygroma is usually associated with chromosomal abnormality especialy Turner syndrome and Trisomy 21.
These should be excluded by amnicentesis and Karyotyping.
Also associated with structural abnormalities, cardiac, renal, etc...
These can be looked for by detailed scan.
If cystic Hygroma only and no other abnormality.>>> then good prognosis and surgical correction can be done.

Quote:

What about

NIHF

EMAK · Century Club Joined: 26 Nov 2006 Posts: 581

A// What are the most likely cause of her condition[5 Marks]

Idiopathic (30%)

Infections (Parvovirus B19, syphilis, CMV, Toxoplasmosis, Herpes simplex, leptospirosis, Chagas disease, Hepatitis B, Adenovirus, Ureaplasma urealyticum, Coxsackievirus type B, Listeria monocytogenes

Anaemia - secondary to fetal infection, chronic feto-maternal haemorrhage, twin-to-twin transfusion.Non-immune haemolytic diseases (glucose-6-phosphate dehydrogenase, pyruvate kinase deficiency Disorders of red cell production - homozygous  -thalassaemia, Diamond- Blackfan syndrome, lethal hereditary spherocytosis

Chromosomal anomalies - Trisomies / Turner's / Triploidy

Structural anomalies
Cardiac - severe congenital heart disease / premature closure of ductus arteriosus / arrhythmias / myocarditis
Pulmonary - CAML / Pulmonary hypoplasia / diaphragmatic hernia
Renal anomalies
Intra-thoracic tumours
Intra-abdominal tumours – ovarian cysts, polycystic
kidneys,
Placental chorioangioma
Sacro-coccygeal terratoma

In-born errors of metabolism

Maternal disease - Diabetes mellitus / pre-eclampsia / severe anaemia / hypoalbuminaemia.

Nick Raine-Fenning · Posted: Sat May 19, 2007 11:15 am Post subject:

Good question EMAK and a subject due to appear soon.

However be careful when you answer as you are supposed to be writing an essay. This is not just about facts. Your answer would be more appropriate in the 'useful info' or 'key facts' Forums. The key to passing the written is to write an essay - this is what people do badly and why the pass rate is so low.

Post the facts as these are great and very important but also try and write a few sentences so we can see how you express yourself and translate this knowledge into an essay or short answer.
_________________
"Teale Fenning Medical Education" delivering evidence-based, exam-orientated learning since 1997

EMAK · Century Club Joined: 26 Nov 2006 Posts: 581

Thanks for this Good advice
I just think it will be easier to memorise, But I do recognise that training to write an essay will be more beneficial...4 sure. Idea

will try it from now and then.En Sha Allah.

Nick Raine-Fenning · Posted: Sat May 19, 2007 8:37 pm Post subject:

Good man ... do both though so each essay / question serves as a learning tool and an essay template / answer
_________________
"Teale Fenning Medical Education" delivering evidence-based, exam-orientated learning since 1997

EMAK · Century Club Joined: 26 Nov 2006 Posts: 581

B// What investigations you think that will help you to reach the diagnosis[5 Marks]

Detailed US scan can reveal other soft markers or structural abnormality renal, intraabdominal or intrathoracic mass, sacrococcygeal teratoma, etc.
Other non invasive test can be done like fetal echocardiography to detect cardiac problem.
Invasive test like amniocentesis and Karyotyping will help in detecting chromosomal abnormality, we can do also PCR to detect disorders like inborn error of metabolism or fetal blood disease.
Cordosentesis will helps in knowing fetal blood group and Hb, also we can do blood film and electropharesis to detect thalassemia and other heamolytic disease.
Viral screenig for both the mother and the fetus can be done to rule out toxoplasmosi, CMV, parvovirus , etc.
Maternal HCG, AFP, s. inhibin can help in diagnosinf trisomy 21.
Presence of Anti-Ro and Anti -La can be a cause fr fetal cardiac disease.

Nick Raine-Fenning · Posted: Sun May 20, 2007 6:14 am Post subject:

Very good but be more direct. Try this for instance ....

A detailed ultrasound scan by a fetal medicine expert is essential to exclude obvious structural abnormalities particularly cardiac anomalies, dysrrhythmia, and an intrathoracic mass. A hyperdynamic circulation, as seen in infection and anaemia, will be associated with increased blow flow within the middle cerebral arteries and ductus venosus. In the absence of such major abnormalities ultrasound may identify other soft markers although the presence of these will not affect management.

Cordocentesis allows confirmation of the fetal karyotype and exclusion of aneuploidy. Haemolysis will be evident on the blood film associated with anaemia. If present this is most likely to be due to disorders of haemaglobin synthesis (sickle cell, thalassaemia etc) or infection (toxoplasmosis, parvovirus, etc) which can be identified through electrophoresis and anti-viral antibody levels although PCR and longterm culture may be necessary. Maternal blood should be assessed for the same problems. Red cell iso-immunisation and antibody mediated thyoid disease are unlikley to present as the placental transfer of IgG antibodies is minimal at this gestation although these disorders should be excluded.

When writing about investigations try to think about the sensitivity and specificity of the test and the prevalence of the disease. Always highlight what you think are the most probable causes and ensure you exclude these first. Try to demonstrate that you understand what is common and that you apply a logical approach rather than a shotgun approach.
_________________
"Teale Fenning Medical Education" delivering evidence-based, exam-orientated learning since 1997

EMAK · Century Club Joined: 26 Nov 2006 Posts: 581

C// What are the key that you will follow in subsquent management [7 Marks]

Further management will depend on the cause, if structural or chromosomal abnormality found, the patient offered TOP which could be done by intra-vaginal pessaries or by Iv oxytocin drip and she may need curettage for complete evacuation of the uterus. Informed consent will be taken from her.

If the mother wish to continue pregnancy, we should respect her wishes.

Some of the causes are treatable like cardiac arrhythmia, we can offer maternal digoxin which can control fetal heart rate also.
Cases of fetal anemia can be treated by intrauterine blood transfusion.
Some case of hydrops fetalis can resolve spontaneously but in her condition in which there is associated cystic hygroma, resolution will be unlikely.
The patient will need another detailed scan at 22 wks gestation for cardiac anomaly , also she will need for growth scan monitoring form 28 wks fortnight.
MDT including specialist in fetal medicine, neonatologist, anesthetist, hematologist and consultant obstetrician will be required.
Her delivery will be most likely by CS because of large fetal size.
Cyctic Hygroma can be treated by a transcutanous laser technique intrauterine which is relatively a new technique or after delivery by surgical correction.

EMAK · Century Club Joined: 26 Nov 2006 Posts: 581

D// What are the risk of recurrence[3 Marks]

Risk of recurence will be different according to the cause,however, the majority of cases will have normal pregnancy in the future.

wolverine · Century Club Joined: 16 Jan 2007 Posts: 394

Makes such a difference the way you present things. What will make an examiner happy and confident with you is to see that you have a logical and systematic approach to things, not how in depth you know them. Don't try to impress them with your knowledge, simply it will work the opposite way!