a simple question. mrs. m, aged 32 years, pre pregnancy counseling my first baby boy was healthy...

A Simple Question

Mrs. M, aged 32 years, Pre pregnancy counseling

My first baby boy was healthy at birth, was told to have heart disease and died on 14th day of life….I am scared of my next baby having the same problem

“”And she asks you

Mrs. M, aged 32 years, Pre pregnancy counseling

• Will this recur again?“”What would your response be?

Recurrence risk – determinationASK few relevant questions

– What kind of CHD was the baby having?• She doesn’t know

– Does she or her partner have CHD?• Mother had a VSD, repaired, asymptomatic now

– Do they have any family history of CHD?• No other family member

– Are they a consanguinous couple?• No

Why should you ask these

What kind of CHD was the baby having?Does she or her partner have CHD?

Do they have any family history of CHD?Are they a consanguinous couple?

• Recurrence risk depends on the type

Recurrence Risk- Based on type of defect

Unaffected parents Affected parents

1 child affected

>2 child affected

Mother Father

VSD 3 % 10 % 9 -10 % 2-3 %

ASD 2-3 % 8 % 6 % 1-2 %

TOF 2 % 8 % 2-5 % 1-2 %

CoA 2 % 6 % 4 % 2-3 %

AS 2 % 6 % 12 -20 % 5 %

PS 2 % 6 % 6-7 % 2 %

HLHS 3 % 10 % NR NR

AVSD 3-4 % NR 10-14% 1 %

PA 1 % 3 % NR NR

TA 1 % 3 % NR NR

TGA 1-2 % 5 % NR NR

L-TGA 5-6 % NR NR NR

Ebsteins 1 % 3 % 6 % NR

Heteroplexy 5-6 % NR NR NR

OVERALL 1-6 % 2-10 % 2- 20% 1-5 %

CHD Recurrence Risk

Mother Father One Siblings

More than one

siblingRisk

No No Yes no 1-6 %

No No Yes Yes 10 %

Yes No No No 5-10 %

No Yes No No 1-5 %

If Many Family Members have CHD

• Familial recurrence is high• Many CHD in family - recurrence– Concordance (same type of CHD) – 37%– Any CHD – 47%

Recurrence risk – determinationASK few relevant questions

– Was the baby normal looking ? Photograph ?• Yes

– Did the baby have any other abnormalities?• No

– Are you having diabetes?• No she doesnt

– Are you having epilepsy, and taking medications?• No

– Were you taking any medications?• No

Why should you ask these

Of all CHD8 – 10 % Chromosomal

• Down – most common (40-50%)• Velocardiofacial syndrome (80%)• Edwards syndrome

Other genetic defects

• CNV - Copy number variations• Mendelian syndromes– Alagille syndrome– Holt Oram syndrome– Noonan syndrome

Non syndromal single gene disorders

• 30 genes detected• Autosomal dominant• Detection by– Linkage analysis– Candidate gene approach

• Most common– NKX2 -5– GATA4

Environmental factors

• Diabetes mellitus– 5 times risk– Before 7 weeks– Why – gene expression, oxidative stress– Defective primary cardiogenesis• Heterotaxy• ASD• VSD• Outflow tract abnormalities

Any Drugs

• Antiepileptics• Warfarin• Thalidomide• Antidepressants

Recommendations to decrease risk• Folic acid supplements• Rubella vaccination preconception• Control of diabetes / phenylketonuria• Antiepileptics– Monotherapy– Least dosage

• Avoiding medication use– in early pregnancy– Taking only if it’s a must

The Last Line in Counseling

The risk of adverse outcomeis NEVER ever more than the chances

having of a good outcome

And this principle of life is the basis of any adverse outcome counseling

While there is life…there is hope