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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]
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]
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]
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]
Fetal abnormalities are conditions that affect a fetus or embryo, are able to be diagnosed prenatally, and may be fatal or cause disease after birth. They may include aneuploidies, structural abnormalities, or neoplasms. Acardiac twin; Achondrogenesis; Achondroplasia
Congenital iodine deficiency syndrome (CIDS), also called cretinism, [2] is a medical condition present at birth marked by impaired physical and mental development, due to insufficient thyroid hormone production (hypothyroidism) often caused by insufficient dietary iodine during pregnancy.
It cannot identify all possible inherited disorders and birth defects, however. One method of performing a prenatal genetic test involves an amniocentesis, which removes a sample of fluid from the mother's amniotic sac 15 to 20 or more weeks into pregnancy. The fluid is then tested for chromosomal abnormalities such as Down syndrome (trisomy 21 ...
Rubella infection in pregnancy can result in various outcomes ranging from asymptomatic infection to congenital defects to miscarriage and fetal death. [ 3 ] [ 4 ] If infection occurs 0–11 weeks after conception, the infant has a 90% risk of being affected. [ 1 ]