Transcript Dia 1 - EMGO

Preconception care –
Preparing for life begins before pregnancy
Martina Cornel, MD, PhD
Professor of community genetics
Global Health &
Preventive
Medicine
Heidelberg
15th June 2011
& public health genomics
Quality of Care
Community Genetics, Dept Clinical Genetics
EMGO Institute for Health and Care Research
Preconception care: when to start?
You think about it, but the time hasn’t come yet…
Preconception care: when to start?
• Conception
• Growth
• Maturity
• Conception
• Growth
• Maturity
• Conception
• Growth
Getting pregnant? Ask before conception!
•First pregnancy health visit often at 12
weeks, when organogenesis is finished
•At 2 weeks after expected menstrual
period, the neural tube is closed (or
anencephaly or spina bifida exists)
Folic acid and neural tube defects
1991 MRC trial: 70% risk reduction
extra folic acid
starting 1 month before conception
untill 3 months thereafter.
1993/1994/1995
- RCTs: MRC Trial (1991) and Czeizel (1992)
- Folic acid can avoid >70% of neural tube defects
- Who tells mothers-to-be??
- Some countries advise/campaign:
- eat more fruits & vegetables
- add folate to food (flour, bread)
- use supplements
-
Cornel MC, Erickson JD. Comparison of national policies on periconceptional use
of folic acid to prevent spina bifida and anencephaly (SBA). Teratol
1997;55(2):134-7.
Countries fortifying flour B9/11 2010
www.cdc.gov/mmwr/preview/mmwrhtml/figures/m5931a2f3.gif
The effect of fortification & advice; USA
• Significant decrease, but still room for
improvement…
Research Groningen; PhD thesis De Walle
- Folic acid can avoid >70% of neural tube defects
- Who tells mothers-to-be??
- Prenatal screening for Down syndrome and NTD
- Folic acid can avoid >70% of neural tube defects
- Who tells mothers-to-be??
- Prenatal screening for Down syndrome and NTD
Translation needed
Libraries cannot be built fast enough to keep up
with modern scientific output.
But moving this knowledge off the shelves and
into practice.. requires translation.
Lenfant NEJM 2003;349:868
We, both health care providers and members of the public, are
not applying what we know Lenfant 2003
Before conception…
• Adequate iodide status
– Mental retardation
• Vaccination against rubella
– Heart, ear, eye, brain
• Alcohol, smoking, medication
• Genetics (carrier screening, family history)
Iodide in salt to reduce hypothyroidism
• Iodine Deficiency Disorders (IDD): the single
greatest cause of preventable mental retardation
Congenital rubella syndrome
• Rubella vaccine was introduced nationwide in 130
countries by the end of 2009, up from 83 countries in 1996.
There has been remarkable progress towards the elimination
of rubella and congenital rubella syndrome in the Americas
with a reduction of 98% of confirmed cases between 1998
and 2009.
Fetal alcohol syndrome
• Mental retardation
• Growth deficiency
• Dysmorphology
• awareness and education on the dangers of
drinking during pregnancy
Carrier status?
• 1 in 25-30 persons of European ancestry is carrier
of cystic fibrosis; the diagnosis after the birth of a
homozygous child is often the moment when
carriers find out
•1 in 7-20 people of
African/Asian ancestry is
carrier of a
hemoglobinopathy
(sickle cell disease or
thalassemia)
•testing for HbP carrier
status is easy and cheap
Genetics: during pregnancy
• Rhesus negative women / Anti-D:
– Routine antenatal anti-D prophylaxis (RAADP) is
recommended as a treatment option for all
pregnant women who are rhesus D (RhD)
negative and who are not known to be
sensitised to the RhD antigen. (NICE, UK)
– in pregnancy [28–34 weeks] and within 17 h
postpartum to prevent isoimmunisation
Healthy motherhood: an urgent call to action
Thelancet.com DOI:10.1016/S0140-6736(06)69389-6
A preconception care programme…
• Fortification (folate, iodide)
• Vaccination
• Information campaigns
– Alcohol, smoking, drugs
• Consultation
– Genetic disorders/family history
– Genetics: carrier testing (autosomal recessive
disorders)
Prepare for life: [email protected]
Summary
• Folic acid: a challenge to translate knowledge to
policy and health care practice
• Other (similar) challenges
– Iodide in salt to reduce hypothyroidism
– Rubella vaccination
– Fetal alcohol syndrome
– Genetics (carrier screening, family history)
Folic acid policy: further reading
• Cornel MC, Erickson JD. Comparison of national
policies on periconceptional use of folic acid to
prevent spina bifida and anencephaly (SBA).
Teratol 1997;55(2):134-7.
• Cornel MC, De Smit DJ, De Jong-van den Berg
LTW. Folic acid – the scientific debate as a base for
public health policy. Reproductive Toxicology
2005;20:411-415.
• Achterbergh R, Lakeman P, Stemerding D, Moors
EHM, Cornel MC. Implementation of
preconceptional carrier screening for cystic fibrosis
and haemoglobinopathies: A sociotechnical
analysis. Health Policy 2007; 83: 277-286.