Annual report PGT 2023
PGT care is extraordinary in more than one way. It offers couples with a serious genetic disorder the opportunity to bring a healthy child into the world, making it life-changing care that makes a difference in hundreds of families each year. In this annual report, you will read about the various dimensions of exceptional PGT care.
Preface
Exceptional care leads to exceptional cases, both in the consultation room of the clinical geneticist and in the IVF and genetic laboratories. In this report, clinical geneticist Sonja de Munnik discusses one of the major challenges in clinical genetics today. Increasingly, genetic research reveals DNA variants whose clinical significance is still unknown. In the case of a so-called ‘variant of unknown significance’ (VUS or class 3 mutation), there is insufficient information to determine whether a DNA variant increases the risk of a particular disorder. Sonja explains what such a variant means for discussions in the consultation room and in relation to PGT.
Alwin Derijck, clinical embryologist at Amsterdam UMC, describes extraordinary cases from his own practice. For example, couples who only discover after a successful IVF process that they are both carriers of the same genetic disorder. Or couples who, during the PGT process, find out that one partner is less fertile due to the eggs not maturing properly or because of gene mutations affecting sperm production. In some cases, these insights into previously unexplained infertility even provide (new) treatment options.
Math Pieters, clinical embryologist and head of the Reproductive Medicine Laboratory at UMC Utrecht, explains the biopsy process and discusses what happens after a non-conclusive PGT result. Such a result provides insufficient evidence for the presence or absence of the relevant genetic disorder in the embryo. These embryos cannot be implanted. What happens to these embryos, and at what stage of the PGT process?
Also extraordinary is the way PGT care is organized in the Netherlands. One central PGT lab works in collaboration with four IVF-PGT centers within the framework of PGT Netherlands. This method of operation ensures excellent and accessible care for patients and guarantees the effective use of resources. It is the mission of PGT Netherlands to provide ever-improving PGT care for more and more prospective parents with serious genetic or chromosomal disorders. One of the key goals is to start the actual IVF-PGT treatment within a year of the patient’s registration. Based on high-quality scientific research, we guarantee innovative PGT care, with quality and safety as our top priorities.
