Preventable Hazards from in Vitro Fertilization – A Case Series of CF Patients from Bulgaria

gender	genotype	oocyte mutation (origin of oocyte)	mutation of the father	age at diagnosis	current age at follow up	clinical summary
boy	c.1521_1523delCTT/c.1739_1740insT	c.1521_1523delCTT (donor)	c.1739_1740insT	9 years	14 years	FTT, NP, SA positive
boy	c.1521_1523delCTT/c.3909C>G	c.1521_1523delCTT (donor)	c.3909C>G	birth	3 months	MI
girl^*	c.1521_1523delCTT/c.1521_1523delCTT	c.1521_1523delCTT (donor)	c.1521_1523 delCTT	3 months	13 months	RI, PA positive
girl^*	c.828C>A /c.1521_1523delCTT	c.828C>A (donor)	c.1521_1523delCTT	11 months	6 yrs 1 month	RI, PA positive
boy	c.3909C>G/c.828C>A	c.3909C>G (mother)	c.828C>A	birth	12 months	MI

FTT – failure to thrive, NP – nasal polyposis, SA- Staphylococcus aureus, MI – meconium ileus, RI – respiratory insufficiency, PA – pseudomonas aeruginosa;

* the patient has twin brother – carrier of c.1521_1523 delCTT

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DOI: https://doi.org/10.2478/bjmg-2023-0001 | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160

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Language: English

Page range: 83 - 88

Published on: Jul 31, 2023

Published by: Macedonian Academy of Sciences and Arts

In partnership with: Paradigm Publishing Services

Keywords:

donor oocytes,

preimplantation diagnosis,

cystic fibrosis,

carrier screening

Related subjects:

Medicine,

Basic medical science,

Basic medical science, other

© 2023 N Yaneva, M Baycheva, P Kostova, V Papochieva, S Mileva, D Miteva, A Savov, G Petrova, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Volume 26 (2023): Issue 1 (July 2023)