Balkan Journal of Medical Genetics

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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Abstract

The aim of this case report was to show the consequences of pregnancy in a cystic fibrosis (CF) patient with a rare mutation. We present a case of a patient with CF, pregnant for the second time, who gave birth to a healthy child. Her mutation status revealed the presence of relatively rare mutation c.3718-2477C>T that is associated with a milder phenotype of the disease. During pregnancy, her vital signs were within normal limits. She had no exacerbations after the third gestational month. Cystic fibrosis is the most common genetic disorder among Caucasians. Over the last few decades, the survival rate and the lifespan of patients with CF have increased progressively. This is why more affected women are choosing to become pregnant. Predictive factors for the pregnancy outcome are basal pulmonary function [measured by forced expiratory volume/1 second (FEV1)], nutritional status [measured by body mass index (BMI)], diabetes and bacterial colonization. The report of our case emphasizes the need for establishing the exact mutations in CF patients who plan to become pregnant in order to predict the possible outcomes of this specific period of life. Moreover, genetic counseling is strongly recommended for the right understanding of the pregnancy risks in such cases.

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