1/17/2024 0 Comments History of sequential screeningLate 1960s and early 1970s: Ultrasound first used clinically to detect and assess the fetusġ959: Karyotyping first used to identify trisomy 21 as cause of Down syndromeĮarly 1970s: Amniocentesis first in use in the USġ980s: Ultrasounds routinely used in early pregnancy for dating, identification of multiples, and identification of major malformationġ980: Fluorescent in situ hybridization (FISH) developedġ980s: Second trimester (15-20 weeks) multiple marker maternal blood screen first used to measure likelihood of that fetus has Trisomy 18 and 21, as well as neural tube defects such as spina bifida and anencephaly.ġ983: Chorionic villus sampling (CVS) first performedġ983: Percutaneous Umbilical Blood Sampling first performedĮarly 1990s: Detailed fetal scan at 20 weeks gestation became part of routine prenatal care in developed nationsġ990s: Chromosomal Microarray Analysis developedĮarly 1990s: CVS in use in US (10-12 weeks)Įarly 2000s: First trimester (11-14 weeks) maternal blood tests first used in combination with ultrasounds to assess likelihood that the fetus has Trisomy 13, 18, and 21. Timeline of Technology Development Data Acquisitionġ956: Amniocentesis first used to identify genetic disorders laws regarding access to health insurance such as the Affordable Care Act). guidelines from the American College of Obstetrics and Gynecology) and policies shaping the broader landscape (e.g. Policy and Law: Policies and laws impacting prenatal screening and diagnostic include guidance specific to prenatal testing (e.g. In response to these technological advances and the diverse nature of the information that can be returned to patients, policies and practices are being revised and, in some cases new policies are being developed.ĭata Acquisition: There are three main methods for acquiring data about the fetus: ultrasound/sonogram, maternal blood tests, and direct sampling of placental or fetal cells (CVS, amniocentesis and umbilical blood sampling).ĭata Interpretation: Current genetic technologies can read at the chromosomal (karyotyping and fluorescent in situ hybridization), sub-chromosomal (chromosomal microarray analysis) and nucleotide base pair (sequencing) levels. Other kinds of results are so rare or poorly understood that it is difficult to be sure what if any impact the genetic difference would have on a child. Some results will indicate only an increased risk of a condition. Sometimes a definite diagnosis can be provided, but even in those cases, the phenotypic presentation (how the condition would affect a child) can vary greatly. Despite these significant technological advances, the quality of the information that data yields can vary greatly. These advances mean that more information about the fetus’s anatomy, genetic make-up, and health can be available today than ever before, often earlier in pregnancy. These advances are the result of new or improved methods for acquiring data about the fetus, and new or improved abilities to interpret that data. Over the past half century, medicine has gained new and improved tools and methods for assessing whether a fetus is likely to have-or has-a range of genetic and congenital conditions. Share on Facebook Share on Twitter Email this Post Published NovemAugust 30, 2022
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