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Early prenatal direct gene diagnosis of cystic fibrosis in a twin pregnancy and subsequent selective termination
Author(s) -
Jørgensen Finn Stener,
Bang Jens,
Tranebjærg Lisbeth,
Berge Lillian N.,
EikNes Sturla H.,
Schwartz Marianne
Publication year - 1994
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970140212
Subject(s) - chorionic villus sampling , cystic fibrosis , prenatal diagnosis , fetus , obstetrics , gestation , twin pregnancy , medicine , chorionic villi , pregnancy , δf508 , gynecology , genetics , biology , cystic fibrosis transmembrane conductance regulator
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.