Prenatal testing in Huntington disease: after the test, choices recommence.
The objective of this study was (1) to determine the impact of prenatal diagnosis (PND) for Huntington disease (HD) on subsequent reproductive choices and family structure; and (2) to assess whether children born after PND were informed of their genetic status. Out of 354 presymptomatic carriers of HD gene mutation, aged 18-45 years, 61 couples requested 101 PNDs. Fifty-four women, 29 female carriers and 25 spouses of male carriers, accepted to be interviewed (0.6-16.3 years after the last PND, median 6.5 years) on their obstetrical history and information given to children born after PND. Women were willing to undergo two or more PNDs with a final success rate of 75%. Reproductive decisions differed depending on the outcome of the first PND. If favourable, 62% couples decided against another pregnancy and 10% chose to have an untested child. If unfavourable, 83% decided for another pregnancy (P<0.01), and the majority (87%) re-entered the PND procedure. In contrast, after a second PND, only 37% asked for a PND and 30% chose to have an untested child. Thirty-three percent had both, tested and untested children. Among children born after PND, 10 years and older, 75% were informed of their genetic status. The decision to prevent transmission of the HD mutation is made anew with each pregnancy. Couples may need more psychological support after PND and pre-counselling sessions should take into account the effect of the outcome of a first PND on subsequent reproductive choices.
APHP, Department of Gynaecology-Obstetrics, University Hospital Pitié-Salpêtrière, Sorbonne Universities, Paris, France.
Hanane
H
Bouchghoul
Department of Research in Ethics, EA1610, University Paris Sud, Orsay, France.|ICM (Institut du Cerveau et de la Moelle épinière), INSERM U1127, CNRS UMR7225, Sorbonne Universities - UPMC University Paris VI UMR_S1127, Paris, France.
Stéphane-Françoise
SF
Clément
APHP, Department of Gynaecology-Obstetrics, University Hospital Pitié-Salpêtrière, Sorbonne Universities, Paris, France.
Danièle
D
Vauthier
APHP, Department of Genetics, University Hospital Pitié-Salpêtrière, Paris, France.
Cécile
C
Cazeneuve
APHP, Department of Genetics, University Hospital Pitié-Salpêtrière, Paris, France.
Sandrine
S
Noel
APHP, Department of Gynaecology-Obstetrics, University Hospital Pitié-Salpêtrière, Sorbonne Universities, Paris, France.
Marc
M
Dommergues
APHP, Department of Genetics, University Hospital Pitié-Salpêtrière, Paris, France.
Delphine
D
Héron
APHP, Department of Gynaecology-Obstetrics, University Hospital Pitié-Salpêtrière, Sorbonne Universities, Paris, France.
Jacky
J
Nizard
APHP, Department of Genetics, University Hospital Pitié-Salpêtrière, Paris, France.|Laboratory of Clinical Psychology and Psychopathology, EA 4056, University Paris Descartes, Institute of Psychology, Paris, France.|APHP, Institut de Myologie, University Hospital Pitié-Salpêtrière, de Paris, Paris, France.
Marcela
M
Gargiulo
ICM (Institut du Cerveau et de la Moelle épinière), INSERM U1127, CNRS UMR7225, Sorbonne Universities - UPMC University Paris VI UMR_S1127, Paris, France.|APHP, Department of Genetics, University Hospital Pitié-Salpêtrière, Paris, France.
Alexandra
A
Durr
D000293:Adolescent; D000328:Adult; D003657:Decision Making; D005260:Female; D005817:Genetic Counseling / Q000523:psychology; D005820:Genetic Testing / Q000941:ethics*; D007722:Health Knowledge, Attitudes, Practice; D006579:Heterozygote; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis / Q000235:genetics / Q000523:psychology*; D008297:Male; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000523:psychology*; D014342:Truth Disclosure