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

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

Preconception care: when to start? Growth Maturity

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 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

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: YPoortman@zonnet.nl

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.