title: [Examples of preimplantation genetic diagnosis versus prenatal diagnosis in carriers of genetic abnormalities: advantages and disadvantages].
abstract: Preimplantation genetic diagnosis (PGD) is a method for identifying genetic abnormalities in embryos obtained via in-vitro fertilisation before their implantation. There are many indications for PGD, which offers an alternative to prenatal diagnosis, although each modality has its advantages and drawbacks. In three female patients there were clear indications for PGD: carriage of the gene for myotubular myopathy, a balanced complex chromosomal translocation, and a Robertsonian translocation in the male partner, respectively. The first patient eventually abandoned PGD and chose prenatal diagnosis. She had a total of three abortions. A twin pregnancy with a so-called foetal reduction resulted in the birth of a genetically normal child. The second patient had one spontaneous abortion and subsequently underwent two PGD cycles, resulting in an uncomplicated pregnancy and the delivery of a genetically normal child. The third patient had one genetically normal child and six spontaneous abortions. She then underwent the PGD procedure successfully and is expecting twins; the pregnancy has been uncomplicated. During preconception counselling of couples at high genetic risk, physicians should be aware of PGD as an alternative to prenatal diagnosis.
authors.affiliation: Scheper Ziekenhuis, afd. Obstetrie en Gynaecologie, Postbus 30.002, 7800 RA Emmen.
authors.forename: B J
authors.initials: BJ
authors.lastname: Snel
authors.forename: T D
authors.initials: TD
authors.lastname: Ypma
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics; D002869:Chromosome Aberrations; D010064:Embryo Implantation; D005260:Female; D005307:Fertilization in Vitro / Q000379:methods*; D006801:Humans; D008297:Male; D011247:Pregnancy; D011256:Pregnancy Outcome; D019836:Preimplantation Diagnosis / Q000379:methods*; D014178:Translocation, Genetic