Impact of genetic testing and family health history of cystic fibrosis in the early prenatal diagnosis and prevention of a new case of genetic disorder

Vol. 60 No. 2, 2019

ROMANIAN JOURNAL of MORPHOLOGY and EMBRYOLOGY

Cristina Crenguta Albu, Ioana Georgeta Stancu, Liliana Georgiana Grigore, Dinu Florin Albu, Stefan Dimitrie Albu, Anca Patrascu, Alexandru Marian Goganau

Cystic fibrosis (CF) is a multi-system autosomal recessive disorder, results of mutations in the CF transmembrane conductance regulator (CFTR) gene, located on the long arm of chromosome 7. We present a special family couple with particular medical history of CF, who comes to our Clinic for genetic tests and a prenatal genetic counseling, to prevent the birth of a new affected CF child. Genetic analysis showed that the first affected child, a daughter, is compound heterozygous for two clinically significant recessive mutations: c.1521_1523delCTT; p.Phe508del, inherited from her mother, who carries the same CFTR mutation, and c.1853_1863delTTTTGCATGAA; p.IIe618Argfs 2, inherited from her father, who is heterozygous, healthy carrier, for the same CFTR mutation. In our case report, early prenatal genetic testing, pre- and post-test genetic counseling was crucial in the management of the present pregnancy, to prevent the birth of a new affected CF child.

Corresponding author: Cristina Crenguta Albu, Lecturer, MD, PhD; e-mail: crenguta.albu@yahoo.com

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