Increased enquiries for preimplantation genetic diagnosis (PGD)

Introduction: Patients with reproductive genetic problems (monogenetic or chromosomal) and their clinicians have closely followed the decision of the High Court regarding the changes of the “Embryonenschutzgesetz” (ESchG) in 2010.

Chromosome aneuploidies are the major cause of implantation failure or pregnancy loss. Arraybased Comparative Genomic Hybridization (arrayCGH) offers detailed information about the chromosomal constitution of the blastocyst particularly from patients with structural chromosomal rearrangements.

Methods: PGD can be performed by either polar body (PBD) or trophoblast (TBD) diagnosis. Whereas PBD is an indirect analysis of the oocyte, TBD uses 1 – 10 trophoblast cells from d5 blastocysts following intracytoplasmatic sperm injection (ICSI). Cytogenetic diagnosis is performed on whole genome amplified DNA, which is hybridized together with a normal male reference overnight on a 1 Mb BAC array from PerkinElmer (ConstitutionalChip 4.0, HG 18) or BAC arrays from BlueGnome (24sure or 24sure+, HG 19). Monogenetic diagnostics need an individually developed test setting.

Results: Since 2010 we had 165 enquiries, who are interested in PGD either for monogenetic disorders (46/165; 28.1%), Robertsonian translocations (21/165; 12.9%), reciprocal translocations (64/165; 38.0%), inversions (2/165; 1.2%) or aneuploidy screening (32/165; 19.6%).

From all enquiries 82 (49.7%) couples received genetic counselling – 19 (23.2%) for monogenetic disorders, 10 (12.2%) for Robertsonian translocations, 28 (34.2%) for reciprocal translocations, 2 (2.4%) for inversions and 23 (28.0%) for aneuploidy screening. More than half are waiting for their first PGD cycle to be performed.

Conclusion: We expect growing interest due to increased awareness of treatment alternatives for couples with reproductive genetic impairment.