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Prenatal diagnosis focuses on pursuing additional detailed information once a particular problem has been found, and can sometimes be more invasive.

The most common screening procedures are routine ultrasounds, blood tests, and blood pressure measurement.

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Screening can detect problems such as neural tube defects, chromosome abnormalities, and gene mutations that would lead to genetic disorders and birth defects, such as spina bifida, cleft palate, Downs Syndrome, Tay–Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, muscular dystrophy, and fragile X syndrome.

Some tests are designed to discover problems which primarily affect the health of the mother, such as PAPP-A to detect pre-eclampsia or glucose tolerance tests to diagnose gestational diabetes.

Non-invasive techniques include examinations of the woman's womb through ultrasonography and maternal serum screens (i.e. Blood tests for select trisomies (Down syndrome in the United States, Down and Edwards syndromes in China) based on detecting cell-free placental DNA present in maternal blood, also known as non-invasive prenatal testing (NIPT), have become available.

Examination of the woman's uterus from outside the body. Commonly dating scans (sometimes known as booking scans or dating ultrasounds) from 7 weeks to confirm pregnancy dates and look for multiple pregnancies.

There are three purposes of prenatal diagnosis: (1) to enable timely medical or surgical treatment of a condition before or after birth, (2) to give the parents the chance to abort a fetus with the diagnosed condition, and (3) to give parents the chance to "prepare" psychologically, socially, financially, and medically for a baby with a health problem or disability, or for the likelihood of a stillbirth.

Having this information in advance of the birth means that healthcare staff as well as parents can better prepare themselves for the delivery of a child with a health problem.

Common diagnosis procedures include amniocentesis and chorionic villus sampling.

In some cases, the tests are administered to determine if the fetus will be aborted, though physicians and patients also find it useful to diagnose high-risk pregnancies early so that delivery can be scheduled in a tertiary care hospital where the baby can receive appropriate care.

Success rates for retrieving fetal trophoblast cells vary from 40% to 90%.

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