Scientific research

Long-term safety, quality and ethics of Preimplantation Genetic Diagnosis

This project started in 2012. It aims to assess safety and reliability on short as well as long term of preimplantation genetic diagnosis (PGD). The project was subsidized by ZonMW and the Dutch ministry of Public Health, Welfare and Sports. There were four substudies.

The first was conducted by Malou Heijligers. She collated all pregnancies after PGD since the start of the programme (1995-2014). Number of children, miscarriage, preterm birth, (very) low birth weight and congenital defects were analysed. The conclusion is that pregnancies after PGD do not bear a higher risk for congenital anomalies or adverse perinatal outcome.

The second study concerned physical and neuropsychological outcome in 51 5-year-old children born after PGD. Control groups were 52 children born after in vitro fertilization/intracytoplasmatic sperm injection (IVF/ICSI), and 35 children born after natural conception (NC) in families at risk for genetic disease. All children were examined by Malou Heijligers and Marleen van der Sangen. PGD-children do not differ in physical nor neuropsychological measurement outcome from IVF/ICSI or NC-children.

This study is ongoing. Furthermore, eight-year-old children are assessed. These children also participated in the five-year-old study and permission was obtained for follow-up examination. In this longitudinal study, we expect to get a better idea if there might be a difference (physical or cognitive) in the long term between PGD, IVF/ICSI and naturally conceived children. Since the age of eight appears to be predictive for cardiovascular health throughout further life, cardiovascular status in eight-year-old children is also assessed. The children are examined by Malou Heijligers and Loes Verheijden.

The third part of the project was an analysis of decision-making, considerations and motivations, moral issues, inner conflicts, experiences and satisfaction with PGD. Joyce Gietel-Habets interviewed 28 couples on these topics. Decision-making was perceived as difficult in general. The degree in which PGD affected their physical and psychological well-being differed between couples. Virtually all PGD-couples said to be satisfied with their decision afterwards. A majority reported that PGD had a positive impact on their lives, a small minority experienced a negative impact. These findings were checked in parents of 5-year-old PGD-children, trough questionnaires, and confirmed.

For the fourth part, Mariska den Heijer interviewed ten families in which PGD was performed for Huntington’s disease in one of the parents. Children were 1-12 years old (mean 6.4). In families with an asymptomatic parent, no psychosocial problems in the child were reported. Families with a symptomatic parent reported psychosocial problems related to the parents disease in the child. All parents stimulated open communication on thoughts and feelings in their family. All families used some form of professional support. No specific PGD-related problems were observed.

Multiple scientific articles will be published, based on the results of the above mentioned studies.

Supervision

Prof. dr. Christine de Die-Smulders, dr. Yvonne Arens

Researchers

Drs. Malou Heijligers, drs. Marleen van der Sangen, drs. Joyce Gietel-Habets, dr. Mariska den Heijer, drs. Loes Verheijden

Project group

Prof. dr. Guido de Wert, dr. Wybo Dondorp, dr. Aafke van Montfoort, dr. Mark van der Hoeven, dr. Ron van Golde, dr. Lisa Jonkman, dr. Madelon Meijer-Hoogeveen, dr. Liesbeth van Osch

Student-researchers

Rick de Rooy, Vyne van der Schoot