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Prenatal testing is a tool that can be used to detect some birth defects at various stages prior to birth. Prenatal testing consists of prenatal screening and prenatal diagnosis , which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible. [ 2 ]
The most prevalent defect in about 1% of fetuses' umbilical region is a single umbilical artery. [30] When a single umbilical artery is found, more tests are run including a detailed ultrasound to detect any other developmental abnormalities that may be the result of the single artery, genetic deviation, or other causes.
The triple test, also called triple screen, the Kettering test or the Bart's test, is an investigation performed during pregnancy in the second trimester to classify a patient as either high-risk or low-risk for chromosomal abnormalities (and neural tube defects). The term "multiple-marker screening test" is sometimes used instead.
A number of defects can be detected before birth by different prenatal tests. [10] Treatment varies depending on the defect in question. [7] This may include therapy, medication, surgery, or assistive technology. [7] Birth defects affected about 96 million people as of 2015. [11] In the United States, they occur in about 3% of newborns. [8]
This leads some parents to use amniocentesis and other forms of prenatal genetic testing (like chorionic villus sampling and preimplantation genetic diagnosis) to determine the sex of the child with the intent of terminating the pregnancy if the fetus is determined to have two X chromosomes. Sex-selective abortion is particularly common in ...
It entails sampling of the chorionic villus (placental tissue) and testing it for chromosomal abnormalities, usually with FISH or PCR. CVS usually takes place at 10–12 weeks' gestation, earlier than amniocentesis or percutaneous umbilical cord blood sampling. It is the preferred technique before 15 weeks. [2]
The difficulty of these tests and the risk of injury to the foetus, potentially resulting in miscarriage or congenital abnormalities (especially when done early during the pregnancy), make them quite rare during the first trimester. In the United States, CVS and amniocentesis are most commonly performed after the 11th and the 15th week of ...
Prenatal repair of spina bifida is available in specialty centers. Fetuses treated with prenatal fetal repair have significantly improved outcomes compared to children whose defects are repaired shortly after birth. [6] Specifically, fetal repair reduces the rate of hydrocephalus, ventriculoperitoneal shunt dependence, and Chiari malformation ...