Outcome in Pregnancy

Obstetric and Gynaecological Aspects in Women
Gauchers News Contents

A study to evaluate how women with Gauchers disease fared with pregnancy and childbirth, both on and off enzyme replacement therapy, has been made by Dr Debby Elstein, Research Director at the Shaare Zedek Medical Centre in Israel together with colleagues.

A five year study of women with Gauchers disease having babies from 1997-2002 was undertaken by Dr Debby Elstein and her colleagues at the Shaare Zedek Medical Centre in Jerusalem to evaluate the impact that Gauchers disease has on a woman's pregnancy and her ability to give birth; and the impact that pregnancy, birth and lactation may have on the course of a mother's Gauchers disease.

'Each one can affect the other,' explained Dr Elstein at the Italian 10th Anniversary Conference in Tuscany in May 2002. Yonatan Elstein, a medical student at the hospital (and Dr Elstein's son) reviewed the paper at the European Working Group on Gaucher Disease meeting in Prague in May 2002.

'Normally a woman's platelets may not function as well during pregnancy when more blood needs to be produced by the mother and this may be exacerbated in a woman with Gauchers disease.

'In addition hip problems may prevent a vaginal birth and more bone problems may arise during and after pregnancy.

'In a composite of surveys of pregnant women with Gauchers disease from 1952 to 2002, 302 pregnancies were recorded with 264 healthy babies being born - an 88% healthy baby outcome.

'It was also recorded as long ago as 1952 that there were no contra-indications for women with Gauchers disease to have children.

Enzyme Replacement Therapy During Pregnancy

'Originally there were concerns about using enzyme replacement therapy during pregnancy. However the use of the drug during pregnancy has shown major benefits including improved general well being in the mother and a good outcome in women with habitual spontaneous abortions (miscarriages).

'In 1997 the outcome of five pregnancies was reviewed where the mothers whose major feature had been recurrent early spontaneous abortions, had been given enzyme replacement therapy before conception.

'Four healthy babies were born at term without any complications; unfortunately the fifth pregnancy was interrupted due to the development of pulmonary hypertension in the mother at 10 weeks.

'It was therefore intuitively assumed that enzyme replacement therapy may be beneficial to the well-being of women with Gauchers disease who are about to start their families, probably by maintaining good haematological levels and possibly by reducing immune or auto-immune features.

Dr Elstein explained that their most recent study covered the period 1997 to early 2002. Forty-three women were studied who had a total of 63 pregnancies. Twenty-one pregnancies were carried with enzyme replacement therapy throughout conception and pregnancy period; one additional pregnancy had enzyme replacement therapy only for the first trimester and then discontinued.

Thirty-six pregnancies were carried by women who received no enzyme replacement therapy. Four women who were not on enzyme replacement therapy required IVF therapy to induce a pregnancy. There were three spontaneous abortions in each group during this period.

Among these women, six patients who had had a total of 15 spontaneous abortions prior to the study period were then given enzyme replacement therapy. There was also one woman who had had a spontaneous abortion prior this period but who remained untreated. Their ages ranged from 20 to 42 years and no difference between the two groups was observed where age was concerned.

'After-birth bleeding complications, which included requiring blood or blood products, occurred in six women who were receiving enzyme replacement therapy and in only one woman who was not on therapy (however she subsequently started to have enzyme replacement therapy). Numbers of Caesarean sections and other more minor complications were also greater among treated women.

Dr Elstein said that one is confronted with the truism that indeed those patients who require enzyme replacement therapy have more symptomatic disease and hence perhaps it is not unexpected that untoward events are greater considering the physiological stress of pregnancy and birth. On the other hand, to provide enzyme replacement therapy to a patient who is mild or asymptomatic prior to starting a family may be unnecessary.

Dr Elstein stressed that the course of pregnancy, birth and delivery in women with Gauchers disease is generally uneventful although many women do experience an onset of signs and symptoms of Gauchers disease during pregnancy especially in after-birth bleeding.

'It is very important to have haematological support and an obstetric team that has experience with Gauchers disease, regardless of the status of the patient.


Dr Elstein gave the following recommendations for pregnant women: Good haematological follow up from before to after birth. Women who receive enzyme replacement therapy can feel comfortable taking it from conception through to giving birth and lactation. Enzyme replacement therapy is recommended for women with a poor obstetric history.

Obstetric and Gynaecological Aspects in Women
Gauchers News Contents

Source: Gauchers News October 2002.
© Copyright Gauchers Association 2002