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Screening for Down syndrome by a combination of maternal age and thickness of nuchal translucency in the fetus at 11–14 weeks of gestation was introduced in the 1990s. [7] This method identifies about 75% of affected fetuses while screening about 5% of pregnancies. Natural fetal loss after positive diagnosis at 12 weeks is about 30%. [6]
[13] [14] Once ultrasound or histological evidence shows that a pregnancy has existed, the term used is clinical miscarriage, which can be "early" (before 12 weeks) or "late" (between 12 and 21 weeks). [13] Spontaneous fetal termination after 20 weeks of gestation is known as a stillbirth. [15]
In fact, consider that Down syndrome affects about 1:400 pregnancies; if you screened 4000 pregnancies with a Quad test, there would probably be 10 Down syndrome pregnancies of which the Quad test, with its 80% sensitivity, would call 8 of them high-risk. The quad test would also tell 5% (~200) of the 3990 normal women that they are high-risk.
Here's what you need to know about miscarriages, their risks and treatment options.
As many as 25 percent of pregnancies end in miscarriage -- and researchers at a British university think they may have discovered why. New study reveals why some women might have multiple miscarriages
Although 91% of fetuses affected by Down syndrome exhibit this defect, 5% of fetuses flagged by the test do not have Down syndrome. Ultrasound may also detect fetal organ anomaly. Usually scans for this type of detection are done around 18 to 23 weeks of gestational age (called the " anatomy scan ", "anomaly scan," or "level 2 ultrasound").
Triploid syndrome, also called triploidy, is a chromosomal disorder in which a fetus has three copies of every chromosome instead of the normal two. If this occurs in only some cells, it is called mosaic triploidy and is less severe. Most embryos with triploidy miscarry early in development.
A mother shares her story about being diagnosed with mosaic Down syndrome. ... Lillian was diagnosed with trisomy 21 at 10 weeks gestation. One year later, their daughter Evelyn, now 15 months ...