Assisted reproduction has become a standard treatment for prospective parents who cannot conceive children normally because one or both partners are subfertile or infertile owing to congenital birth defects, childhood infection, cancer therapy or accidents. In vitro fertilisation, often in combination with intracytoplasmic sperm injection (ICSI), offers these patients a safe and efficient option to have children. The development of new technologies has further expanded the application of assisted reproductive technologies (ART) to help patients with inherited mutations for severe diseases—such as cystic fibrosis, Huntington or Duchenne muscular dystrophy—who have a high risk that their children would inherit a devastating disease and either die at young age and/or suffer greatly throughout life. Many couples who prefer to become the genetic parents of a disease‐free child can now achieve this by either prenatal diagnosis (PND) and selective termination of pregnancy or preimplantation genetic diagnosis (PGD) and selective transfer of embryos without the disease‐causing mutations.
Whatever their choice, couples or individuals who carry disease‐causing mutations need genetic and reproductive counselling to inform them about the disease and its causes and its recurrence risk and discuss the options for having healthy children. After counselling, couples need to take an autonomous decision to refrain from having children, to adopt, to opt for gamete donation or to use ART with PND or PGD.
In the 1960s, it became possible to obtain amniotic fluid for genetic analysis of the embryo's genome. Amniocentesis is commonly performed at the 16th week of pregnancy when there is sufficient amniotic fluid to take a sample of about 20 ml for cell culture. It was first done blindly, which means that the puncture site was located by external palpation of the uterus. In the 1970s, ultrasound scanning became available, which drastically improved safety as the gynaecologist can see the puncture needle on …
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