Case report of a successful pregnancy in a cystic fibrosis patient with the c.1521_1523delCTT/c.3718-2477C>t genotypes
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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Sciendo
2021-03-01
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| Series: | Balkan Journal of Medical Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.2478/bjmg-2020-0018 |
| _version_ | 1827833629060890624 |
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| author | Spasova VL Koleva LI Toncheva DI Karamisheva VI |
| author_facet | Spasova VL Koleva LI Toncheva DI Karamisheva VI |
| author_sort | Spasova VL |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-12T05:34:59Z |
| format | Article |
| id | doaj.art-f545892965804281aef6cdf13b22bb9c |
| institution | Directory Open Access Journal |
| issn | 1311-0160 |
| language | English |
| last_indexed | 2024-03-12T05:34:59Z |
| publishDate | 2021-03-01 |
| publisher | Sciendo |
| record_format | Article |
| series | Balkan Journal of Medical Genetics |
| spelling | doaj.art-f545892965804281aef6cdf13b22bb9c2023-09-03T06:32:19ZengSciendoBalkan Journal of Medical Genetics1311-01602021-03-0123210310610.2478/bjmg-2020-0018Case report of a successful pregnancy in a cystic fibrosis patient with the c.1521_1523delCTT/c.3718-2477C>t genotypesSpasova VL0Koleva LI1Toncheva DI2Karamisheva VI3Department of Medical Genetics, Medical University of Sofia, SofiaBulgariaOperative Gynaecology Clinic, UMBALSM “N. I. Pirogov”, Sofia, BulgariaDepartment of Medical Genetics, Medical University of Sofia, SofiaBulgariaSecond Gynaecology Clinic, SBALAG “Maichin dom”, Sofia, BulgariaThe 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.https://doi.org/10.2478/bjmg-2020-0018cystic fibrosis (cf)genetic statusmutationpregnancy |
| spellingShingle | Spasova VL Koleva LI Toncheva DI Karamisheva VI Case report of a successful pregnancy in a cystic fibrosis patient with the c.1521_1523delCTT/c.3718-2477C>t genotypes Balkan Journal of Medical Genetics cystic fibrosis (cf) genetic status mutation pregnancy |
| title | Case report of a successful pregnancy in a cystic fibrosis patient with the c.1521_1523delCTT/c.3718-2477C>t genotypes |
| title_full | Case report of a successful pregnancy in a cystic fibrosis patient with the c.1521_1523delCTT/c.3718-2477C>t genotypes |
| title_fullStr | Case report of a successful pregnancy in a cystic fibrosis patient with the c.1521_1523delCTT/c.3718-2477C>t genotypes |
| title_full_unstemmed | Case report of a successful pregnancy in a cystic fibrosis patient with the c.1521_1523delCTT/c.3718-2477C>t genotypes |
| title_short | Case report of a successful pregnancy in a cystic fibrosis patient with the c.1521_1523delCTT/c.3718-2477C>t genotypes |
| title_sort | case report of a successful pregnancy in a cystic fibrosis patient with the c 1521 1523delctt c 3718 2477c t genotypes |
| topic | cystic fibrosis (cf) genetic status mutation pregnancy |
| url | https://doi.org/10.2478/bjmg-2020-0018 |
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