1. Preparing for life begins before pregnancy
Preconception care –
Preparing for life begins before pregnancy
Global Health & Preventive Medicine
Heidelberg
15th June 2011
Martina Cornel, MD, PhD
Professor of community genetics
& public health genomics
Community Genetics, Dept Clinical Genetics

2. Preconception care: when to start?
You think about it, but the time hasn’t come yet…

3. Preconception care: when to start?
Growth
Maturity

4. 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)

5. Folic acid and neural tube defects
1991 MRC trial: 70% risk reduction
extra folic acid
starting 1 month before conception untill 3 months thereafter.

6. 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. 

7. Countries fortifying flour B9/11 2010

8. The effect of fortification & advice; USA
Significant decrease, but still room for improvement…

9. 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

10. Folic acid can avoid >70% of neural tube defects
Who tells mothers-to-be??
Prenatal screening for Down syndrome and NTD

12. 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

13. We, both health care providers and members of the public, are not applying what we know Lenfant 2003

14. Before conception… Adequate iodide status Mental retardation
Vaccination against rubella
Heart, ear, eye, brain
Alcohol, smoking, medication
Genetics (carrier screening, family history)

15. Iodide in salt to reduce hypothyroidism
Iodine Deficiency Disorders (IDD): the single greatest cause of preventable mental retardation

16. Congenital rubella syndrome
Rubella vaccine was introduced nationwide in 130 countries by the end of 2009, up from 83 countries in 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 and 2009.

17. Fetal alcohol syndrome
Mental retardation
Growth deficiency
Dysmorphology
awareness and education on the dangers of drinking during pregnancy

18. Carrier status?
1 in 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
gezond
patiënt
gezonde
drager
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

19. 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: /S (06)

20. 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:

22. 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)

23. 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:  
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: