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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. [1]
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]
The total number of embryos affected by the use of thalidomide during pregnancy is estimated at more than 10,000, and potentially up to 20,000; of these, approximately 40 percent died at or shortly after the time of birth. [3] [9] [10] Those who survived had limb, eye, urinary tract, and heart defects. [6]
Ultrasound examination may also detect the problem. Medical imaging can confirm the diagnosis after birth. [5] Spina bifida is a type of neural tube defect related to but distinct from other types such as anencephaly and encephalocele. [13] Most cases of spina bifida can be prevented if the mother gets enough folate before and during pregnancy. [3]
In most countries, routine pregnancy sonographic scans are performed to detect developmental defects before birth. This includes checking the status of the limbs and vital organs, as well as (sometimes) specific tests for abnormalities.
There are three distinguished types of Preimplantation Genetic Testing (PGT) depending on the defects evaluated. PGT-A, also called preimplantational genetic screening (PGS), improves pregnancy rates by allowing the discard of aneuploids and the selection of euploid embryos for transfer. Euploid embryos are more likely to implant and develop ...
Thalidomide is a known human teratogen and carries an extremely high risk of severe, life-threatening birth defects if administered or taken during pregnancy. [6] It causes skeletal deformities such as amelia (absence of legs and/or arms), absence of bones, and phocomelia (malformation of the limbs).
Studies from 2000 to 2006 estimated the procedure-related pregnancy loss at 0.6-0.86%. [34] [35] The most recent systematic review of the literature and updated meta-analysis on the risk of pregnancy loss following amniocentesis was published in 2019. This study cites the amniocentesis-related pregnancy loss to be 0.30% (95% CI, 0.11–0.49%). [36]