From whispering sweet nothings to declaring binding vows, the path to marriage is a momentous one. You find your soulmate, your confidante, and together you will navigate the often-choppy waters of the world. Happy in your intimate union of two, you’d be happier still to become three, and raise a new shared hope. This is the dream of many engaged couples. But what if a surprise diagnosis intervenes? Before Christmas a recently engaged young woman called our Helpline for advice upon the shock discovery of Marfan syndrome in her fiancé. Their future pregnancy suddenly becomes complicated, involving necessary forethought and planning.

Q: I was just looking into Pre-Implantation Genetic Diagnosis (PGD) IVF online as my fiancé has just been diagnosed with Marfan syndrome! I was wondering if you have any further information for us? Thank you in advance! 

A: Delighted you are planning a pregnancy and also that you are considering baby’s health.

You need to discuss this with your regional genetics department so please ask your family doctor to refer you BOTH. If you give me your home address I can advise where your nearest genetics group are located.

Secondly, you will need your partner’s gene mutation. Has this been reported?

This is how the affected preembryos created in the fertility unit are tested before being set aside in favour of the good unaffected preembryos which are used for putting back in the womb, or freezing for future use.

Since this is your first pregnancy, the NHS will fund the first attempt, usually for up to three tries (you may not fall pregnant the first time).

To develop the test , the unit may need blood samples from other family members. So the geneticist will ask your partner’s family tree at the interview.

There are only a few Fertility Units in UK. In London, the best unit is at Guys and St Thomas’ Hospital. You need a referral from your local geneticist with all the necessary information, in order to be given an appointment.

The preparation takes one year from the time of referral appointment to actual implantation. So be patient.

The alternative is to become pregnant and have baby’s genetic makeup tested at 13 weeks’ gestation by taking a small sample of the placenta through the vagina (pre natal diagnosis). Answer in about 20 days. But if affected, you might want to consider your options and try again.

PGD is probably much preferable.

This is just a guide.

We did a survey of 20 couples with a Marfan partner, who had used PGD. Of these, 16 had an unaffected baby. The other four were glad they had tried, even if unsuccessful. They went on to try natural conception. One couple failed to conceive probably due to maternal advanced age. So don’t leave pregnancy too late!

For more information, see:
- The Acceptability of Prenatal Diagnosis & Pre-Implantation
- Starting a Family 
What to Expect When You’re Pregnant with Marfan Syndrome
Going in to Labour with Marfan Syndrome
- Pregnancy in Marfan syndrome guide

The Marfan Trust is registered in England and Wales under charity number 328070 at Guy Scadding Building, Dovehouse Street, London SW3 6LY. Contact us at [email protected] or by phone on + 44 (0)20 7594 1605
Log in | Powered by White Fuse