Clinical outcome of preimplantation genetic diagnosis for cystic fibrosis: the Brussels' experience.
Preimplantation genetic diagnosis is an alternative for prenatal diagnosis that makes it possible to perform the diagnosis of a chromosomal or monogenic disorder at the preimplantation embryo level. Cystic fibrosis is one of the monogenic diseases for which PGD can be performed. In this study, we looked at the requests and PGD cycles for this particular disorder over an 11-year period. Sixty-eight percent of the requests eventually led to at least one complete PGD cycle. In 80% of the cycles, an embryo transfer was performed and an ongoing pregnancy was obtained in 22.2% of the cycles with oocyte retrieval. After embryo transfer, a couple had 27.8% chance of giving birth to a liveborn child. No misdiagnosis was recorded. The rate of perinatal deaths/stillborn children was relatively high, but no excess of major congenital anomalies was observed in the surviving children.
Keymolen
Kathelijn
K
Centre for Medical Genetics, Vrije Universiteit Brussel, Belgium. lgenknk@az.vub.ac.be
Goossens
Veerle
V
De Rycke
Martine
M
Sermon
Karen
K
Boelaert
Kristel
K
Bonduelle
Maryse
M
Van Steirteghem
André
A
Liebaers
Inge
I
D001530:Belgium / Q000453:epidemiology; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004624:Embryo Transfer / Q000706:statistics & numerical data; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011256:Pregnancy Outcome; D019836:Preimplantation Diagnosis / Q000009:adverse effects / Q000706:statistics & numerical data
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator