Preimplantation genetic diagnosis is a medical procedure that families with<unk>  can undergo to guarantee non-affected offspring. As a genetic disorder, the mainstay of twenty-first century prevention of<unk>  is based on preventing affected individuals from being born in the first place. Genetic counseling can help patients and their families determine what types of screening, if any, are right for their situation. Patients can consider preimplantation genetic diagnosis after in vitro fertilization to select fertilized embryos which are not affected. Common mutations which cause<unk>  may be caught by exome sequencing and whole genome sequencing. If a pregnancy is already in progress, the procedure of amniocentesis may be undergone to see if the fetus is affected. If affected, it is up to the family to consider whether or not they want to terminate the pregnancy and try again—raising questions of medical ethics and a woman's right to choose. Without intervention, patients with the most common mutations causing<unk>  have a 50% chance per gestation of passing on the disorder, as these mutations are inherited in an autosomal dominant pattern of Mendelian inheritance. Those with the rare autosomal recessive forms of<unk>  have a 25% chance of passing on the disorder. Genetic testing of the affected members of the family can be used to determine which inheritance pattern applies. As<unk>  type I may be difficult to detect in a newborn child, the cord blood of the child can be tested to determine if it has been passed on if the family has already rejected the more invasive genetic screening methods. In more severe cases, the diagnosis may be able to be done via ultrasound, especially if<unk>  is already a possibility. An ethical concern with prenatal screening for<unk>  often arises when parents inquire as to how severely affected their child will be—such questions are as yet difficult to answer conclusively. If a non-affected person has already had a child with<unk> , there is a greater likelihood (although still quite remote), that their future children will have<unk>  due to genetic mosaicism. The disability rights critique of prenatal screening for<unk> , held by some bioethicists and some affected individuals, negatively compares it to eugenics, with even those not opposed to abortion opposing selective abortions on the ethical ground that their existence betrays the belief that the lives of those with<unk>  are "less worth living and less valuable".
Osteogenesis imperfecta
Lhermitte's sign
Dentinogenesis imperfecta
Cleidocranial dysostosis
Gerodermia osteodysplastica
Kyrle disease
Rhizomelic chondrodysplasia punctata
Acrodysostosis