Preimplantation genetic diagnosis

Article Abstract:

Prenatal diagnosis may prevent the birth of babies with certain genetic disorders. Amniotic-fluid cells were first tested for genetic disorders in 1956, and the first prenatal diagnosis of trisomy 21, or Down's syndrome, occurred in 1968. Amniocentesis during the second trimester of pregnancy was proven to be safe and effective during the 1970s. Chorionic-villus sampling has made it possible to test for certain genetic disorders during the first trimester of pregnancy. A research study found that the safety of chorionic-villus sampling may vary depending on the testing center. Testing embryos that have been conceived using in vitro fertilization before implantation may eliminate the risk associated with other types of testing and the need to terminate a pregnancy. A research study found that cystic fibrosis can be diagnosed using preimplantation testing.

Editorial, Methods, Fertilization in vitro

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Preimplantation diagnosis for sonic hedgehog mutation causing familial holoprosencephaly

Article Abstract:

Preimplantation genetic screening can be done on human embryos resulting from in vitro fertilization to detect a gene that causes holoprosencephaly. This disorder causes brain and facial abnormalities. One couple who had two children affected by the disorder decided to have in vitro fertilization, and only embryos without the mutation were transferred to the woman's uterus. She gave birth to a healthy baby girl.

Prevention, Fertilization in vitro, Human, Human fertilization in vitro, Holoprosencephaly

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First-trimester screening for trisomies 21 and 18

Article Abstract:

A blood test and an ultrasound scan of the fetal neck can identify babies who have Down syndrome and other chromosomal abnormalities during the first trimester, according to a study of 8,514 pregnant women. Most other tests for chromosomal abnormalities are done during the second trimester. But many women may object to having an abortion in the second trimester.

Down syndrome, Trisomy, Edwards' syndrome

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