CASE REPORT OF A SUCCESSFUL PREGNANCY
IN A CYSTIC FIBROSIS PATIENT WITH THE
c.1521_1523delCTT/c.3718-2477C>T GENOTYPES
Spasova VL, Koleva LI, Toncheva DI, Karamisheva VI
*Corresponding Author: Victoria L. Spasova, M.D., Department of Medical Genetics, Medical University
of Sofia, 2 Zdrave Str., 1431 Sofia, Bulgaria. Tel: +359-887-06-65-87. Fax: +359-9520-357.
E-mail: vic.spasova@ gmail.com
page: 103
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DISCUSSION
In this case report, we document a case of a woman
suffering from CF with genotype c.1521_1523delCTT/
c.3718-2477C>T, who became pregnant for the second time.
Monitoring of pregnancy in such cases is a great challenge
because of the lack of experience of the obstetricians. According
to the Cystic Fibrosis Foundation, the pregnancy
rate, worldwide, in women with CF was reported to be 273 in
2017. Moreover, a literature review revealed some possible
complications concerning both mother and child. In 1960, the
first successful pregnancy of a woman with CF was reported
[3]. The baby was delivered prematurely and healthy, but the
mother died from lung failure 5 weeks later. Nowadays, the
life expectancy of CF patients is approximately 30 years [4].
Increased life expectancy, new personalized treatment and
better quality of life lead to more women with CF reaching
childbearing age and choosing to become pregnant.
Prematurity is one of the most common complications
in pregnant women with CF [5,6]. Until now, there have
been no reports of higher rates of congenital malformations
in babies born to mothers with CF compared to those born
to healthy mothers [7], despite the possible teratogenic effect
due to extensive drug therapy. Women with CF who
became pregnant, frequently experience gestational diabetes,
hemoptysis and reduced pulmonary function [8].
Interestingly, our patient had none of these as her only
hospitalization was for a pulmonary infection and was
successfully treated with a combination of antibiotics.
Different factors have been supposed to predict the
outcome of the pregnancies of CF patients, pre pregnancy
FEV1 [9,10], pre pregnancy nutrition status [11,12], medication
usage [13], CF-related diabetes [14,15]. Moreover,
pre pregnancy FEV1 is significantly associated with gestational
age at delivery [8].
The most common mutation in the CFTR gene is
c.1521_ 1523delCTT, which is found in 83.0% of Bulgarian
muco-viscidosis patients, as in 43.0% of them, it
is in combination with other mutation [2]. The frequency
of c.3718-2477 C>T (legacy name 3849+10kbC>T) mutation
in Bulgarian patients is 1.92% [2]. Studies show
that patients with the c.3718-2477C>T (3849+10kbC>T)
mutation are diagnosed at a more advanced age and are
in a better nutritional state [16]. This mutation causes the
creation of an alternative splice acceptor site. Thus, abnormal
mRNA is produced but normally spliced mRNA also
occurs. This is why the c.3718-2477C>T (3849+10kbC>T)
mutation is associated with milder phenotype [17]. In conclusion, lung function is crucial for the longterm
prognosis of pregnant women suffering from CF.
Poor lung function can cause pregnancy complications
and worsening symptoms of the disease. On the contrary,
stable lung function before and during pregnancy, ensures
a good pregnancy outcome and fewer exacerbations during
this period. Even though CF is a well-studied disease,
managing pregnant patients with the disease is still a great
challenge for obstetricians and the more information is
provided the better.
As the lifespan of CF patients increases, the possibility
of women getting pregnant and giving birth is
much more likely. Counseling women with CF willing to
become pregnant is essential for the right understanding
of possible complications, as well as for a better outcome
for both mother and baby.
Declaration of Interest. The authors report no conflicts
of interest. The authors alone are responsible for the
content and writing of this article.
Funding. This study was supported by the Bulgarian
Ministry of Education and Science under the National
Program for Research “Young Scientists and Postdoctoral
Students.”
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