Book of Medical Disorders in Pregnancy - Tintash

presentations with systemic upset,
arthralgia, fever, erythema nodosum and
bilateral hilar lymphadenopathy seen
radiologically are usually self limiting.
Corticosteroids are given with acute
presentation if systemic symptoms are
severe, if there is hypercalcemia (some
times seen in sarcoidosis), significant
parenchymal lung disease with impairment
of function, or significant involvement
of other organs, particularly eye
and central nervous system. Sarcoidosis
rarely significantly complicates a pregnancy.
Connective tissue diseases, such as rheumatoid
arthritis, systemic lupus erythematosus
(SLE) and systemic sclerosis
may involve the lungs. The first two
conditions may give rise to pleural
involvement, with effusions, but the
commonest pulmonary manifestation of
connective tissue disease is interstitial
pulmonary fibrosis of the type seen in
cryptogenic fibrosing alveolitis.
Kyphoscoliosis and neuromuscular disorders
will also cause a restrictive defect
on pulmonary function testing. Unlike
interstitial lung diseases, however, affected
individuals are prone to develop
type II (hypoxic and hypercapnic) respiratory
failure, sometimes without gross
breathlessness. As in cases of severe
cystic fibrosis, it is essential that the
confusion and oedema of progressive
respiratory failure are not mistaken for
pre-eclampsia. Severe scoliosis may progress
during pregnancy due to the developpment
of ligamentous laxity.
Provided measurements of lung function
are 50% or greater of predicted values,
complications are uncommon. Like cystic
fibrosis, pulmonary hypertension at
the onset of pregnancy carries very high
risks for both mother and fetus.
106
6. Cystic Fibrosis: Three aspects are of
particular relevance: the risk of the baby
being affected by CF, the consequences
to mother and fetus of poor lung
function during advancing pregnancy,
and the outlook for the mother after
delivery. CF is an inherited disorder of
epithelial membranes and is
characterized by abnormal glandular
secretions. The most important clinical
manifestations are intestinal
malabsorption, with associated nutriational
consequences, and recurrent chest
infections leading to progressive lung
damage and ultimately death from respiratory
failure. All pregnant women
with CF should be closely monitored by
such a unit. CF is an autosomalrecessive
disorder, the affected individual
possessing two copies of the CF gene.
The frequency of heterozygous carriers
(with a single copy of the gene) in a
white population is approximately 1 in
20 to 1 in 25 indivi-duals, and
considerably less than this in Afro-
Caribbean populations. Recent advances
in molecular biology mean that
most (but not all) heterozygous carriers
can be identified from blood or buccal
cells, and a genetic counsellor can then
give advice before a planned pregnancy
about the chances of an affected fetus.
All offspring of a CF woman will be
heterozygous CF gene carriers, even if
they are not homozygous with clinical
disease. These carriers and, vitally, the
homozygous (and thus potentially clinically
affected) fetus may be detected by
chorionic villus sampling. In the past,
women with CF were in general counselled
to avoid pregnancy because of its
adverse effects upon respiratory function.
The most seriously ill may be less
likely to be sexually active, and those
who are active may be less likely to