Healthy children begin before conception.

In short: folate is not optional — but the right form depends on your genotype, and so does the right dose. Carriers of MTHFR variants convert synthetic folic acid slowly and incompletely; non-carriers rarely need active folate at high dose. One test settles which you are, and it holds for life. We assess both parents before conception, and offer NIPT during pregnancy.

Healthy children begin before conception

Antenatal care starts at a positive pregnancy test. By then the most consequential window has already closed: the neural tube closes around day 28, egg maturation takes roughly 90 days, and spermatogenesis takes about 74. The biochemistry that shapes those processes is set months before anyone knows there is a pregnancy.

Preconception assessment moves the starting point. Instead of optimising a pregnancy already underway, it establishes what the parents' biology can supply before conception — and corrects what is correctable while there is still time for correction to matter.

This applies to both parents. Half the child's genome comes from the father, and paternal folate status, methylation capacity and DNA fragmentation are as relevant as the mother's. In practice they are almost never examined.

Folic acid is the wrong form for many — test before you dose

Nearly every clinician gives the same advice: take folic acid when planning pregnancy. The principle is correct. Folate is critical for neural tube closure and DNA synthesis. You should take folate.

But the advice assumes something that does not hold for everyone — that the body efficiently converts synthetic folic acid into the active form. In MTHFR C677T homozygotes the enzyme operates at 30–40 % of normal capacity. Conversion happens, but slowly and incompletely. At least 40 % of the population carries one or more MTHFR variants, and standard screening does not test for it.

The consequence is not that folate is wrong. It is that the form and the dose are set blind, and that a normal serum folate can conceal insufficient availability inside the cell.

Should I take folic acid if I carry an MTHFR variant?

Yes — never stop folate supplementation. But choose the right form. Synthetic folic acid requires the MTHFR enzyme to become 5-MTHF, the form the cell actually uses. At C677T homozygosity the enzyme runs at 30–40 % of normal capacity. At high intakes the conversion saturates and unmetabolised folic acid accumulates in blood — linked in the literature to masked B12 deficiency and adverse pregnancy outcomes. The clinically reasonable form for carriers is active methylfolate (5-MTHF), dosed according to genotype and verified intracellular folate status.

Important: periconceptional folate supplementation reduces the risk of neural tube defects by roughly 70 %, and the neural tube closes around day 28 — often before pregnancy is known. Never stop folate. Discuss the form with your midwife or doctor.

But methylfolate is not right for everyone either. In someone with normal MTHFR function there is no bottleneck to bypass. High doses of active methylfolate can then drive methylation faster than downstream capacity allows — clinically seen as restlessness, irritability, headache and disturbed sleep — and increase the draw on methyl groups, and therefore the requirement for methionine, B12, B6 and choline. This is a clinical observation rather than a well-established dose–response relationship, but the pattern recurs often enough not to ignore.

The conclusion runs both ways, and that is the point: the wrong form can harm whichever one you choose blindly. Carriers need active folate. Non-carriers rarely need it at high dose. Which one you are is settled by a test done once that holds for life — not by whichever bottle was nearest on the shelf.

Our clear recommendation: test methylation before you try to conceive — both of you

Folate, B12, choline and betaine all run through the same methylation machinery. Which form and which dose is right for you is determined by your genotype, not by a generic instruction on a label. It is a single measurement that holds for the rest of your life, and it costs a fraction of what a failed pregnancy does.

Test both partners. Sperm quality and DNA fragmentation are affected by the same methylation pathways. Half the child's genome comes from the father, and his folate status is as relevant as the mother's — something that in practice is never investigated.

During pregnancy: NIPT

NIPT (non-invasive prenatal testing) analyses cell-free fetal DNA in maternal blood from around week 10 and screens for the most common chromosomal conditions — trisomy 21, 18 and 13. It is a blood test with no miscarriage risk, unlike amniocentesis or chorionic villus sampling.

NIPT is a screening test, not a diagnostic answer. A positive finding must always be confirmed by CVS or amniocentesis before any conclusions are drawn. Nor does it replace preconception assessment — it measures something entirely different, at an entirely different time.

We offer NIPT. Our view is that everyone who can should have it, and the advantage of doing it with us is that the result is read alongside your methylation profile and other findings rather than as an isolated verdict.

Frequently asked questions

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