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Early prenatal direct gene diagnosis of cystic fibrosis in a twin pregnancy and subsequent selective termination |
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| Authors: | Finn Stener Jørgensen MD Jens Bang Lisbeth Tranebjærg Lillian N Berge Sturla H Eik-Nes Marianne Schwartz |
| Institution: | 1. Department of Obstetrics and Gynecology, Section of Ultrasound, Rigshospitalet, University of Copenhagen, Denmark;2. Department of Medical Genetics, Trondheim University Hospital, Trondheim, Norway;3. Department of Obstetrics and Gynecology, Trondheim University Hospital, Trondheim, Norway;4. Tromsø University Hospital, Tromsø, and National Center for Fetal Medicine, Trondheim University Hospital, Trondheim, Norway;5. Department of Pediatrics, Section of Clinical Genetics, Rigshospitalet, University of Copenhagen, Denmark |
| Abstract: | We present a case of prenatal diagnosis of cystic fibrosis (CF) in one twin at 11–12 weeks of gestation. The parents had previously had two children, one of whom is alive and healthy and one who died of CF at the age of 2½ months. The parents were both known to be carriers of the ΔF508 mutation. Chorionic villus sampling (CVS) was performed and direct gene analysis showed that one fetus was homozygous for the ΔF508 mutation, while the other fetus did not have the mutation at all. Both fetuses had normal karyotypes. Selective termination was subsequently performed. The pregnancy continued without complications except for mild pre-eclampsia at term. The woman had a Caesarean section. The genetic diagnosis was confirmed after birth. |
| Keywords: | Cystic fibrosis selective termination twins ΔF508 mutation |