Sampling the fluid from the amniotic cavity after about 14 or 15 weeks of pregnancy. Cells from the fetus can be set up in culture for a karyotype, or for special diagnoses can be examined more quickly by fluorescent in situ hybridisation (FISH), comparative genomic hybridisation (CGH) or by polymerase chain reaction (PCR). Other substances in the amniotic fluid (such as alpha fetoprotein, or AFP) can be measured to indicate whether the fetus is normal or not.

A form of albumin (a protein in the blood) produced only by the fetus, but crosses the placenta and so is detectable in the mother's blood (measured with a serum alpha fetoprotein, as well as being usefully measured in amniotic fluid obtained by amniocentesis. Detectable in higher than usual concentration with certain open abnormalities involving the fetus's brain and spinal cord (namely anencephaly and spina bifida). Present in lower than usual concentration when there is a trisomyin the fetus, such as Down syndrome (or trisomy 21), trisomy 18 or possibly Klinefelter syndrome -- screening for all of which can be done with a triple test.

Cavity enclosed by the amnion, which grows from the embryo within the gestational sac, gradually catching up with it in size by about 14 weeks, when the amnion and chorion fuse, and after which amniocentesis becomes practicable.

The fluid in the amniotic cavity, or gestational sac, which contains cells derived from the fetus. Sampled with amniocentesis.

(CGH) A molecular DNA diagnostic technique whereby a set of chromosomes (a genome) is compared with a standard set using different colored dyes (typically red and green), so that any areas that do not exactly match will appear green or red instead of brown; a sensitive technique that can be applied to preimplantation genetic diagnosis as well as to chorionic villous sampling, or CVS, and to amniocentesis for prenatal diagnosis, yielding results much faster than is possible with a formal karyotype and more comprehensively than is possible with fluorescent in situ hybridisation.

Due to trisomy 21. Chromosome 21 is the smallest of the "autosomes" (the non-sex chromosomes): trisomies of the other autosomes tend to be lethal at an earlier stage of embryonic or fetal development, and so are seen much more rarely. Diagnosis of Down's syndrome requires a karyotype, obtainable from pregnancy tissue by chorionic villus sampling (CVS) or amniocentesis. Screening for increased risk in pregnancy can be performed by triple screen or by looking for nuchal translucency at transvaginal ultrasound.

A fluid-filled bag of membranes in which the embryo forms during pregnancy. Visible on transvaginal ultrasound from about 5 weeks from the last menstrual period. Technically, the amniotic cavity (and later in pregnancy able to be sampled with amniocentesis).

Measurement of alpha fetoprotein in blood serum. High levels can indicate a birth defect involving the brain or spinal cord, such as anencephaly or spina bifida (confirmed if amniocentesis shows high AFP levels in the amniotic fluid). Low levels can indicate an increased risk of Down syndrome (or trisomy 21), trisomy 18 and, occasionally, Klinefelter syndrome, signaling the need for a karyotype of the fetus's tissues by chorionic villus sampling (CVS) or amniocentesis.

A screen for congenital abnormalities of the fetus done on the mother's blood serum during pregnancy to look for fetal trisomy, including Down syndrome. The original test comprised measurements of (1) serum alpha fetoprotein (decreased in the trisomies), (2) serum hCG (increased in trisomy 21, decreased in trisomy 18), and (3) serum estriol (decreased in trisomy 21, increased in trisomy 18). Note that only 60% of pregnancies with Down syndrome will be revealed by a triple test. Refinements have taken place, with 'free beta' (part of the hCG molecule) replacing hCG itself, and with the addition of PAPP-A replacing estriol, increasing the sensitivity and specificity of the test. Further gains in sensitivity and specificity comes from adding an ultrasound test for nuchal translucency. Even so, false positive tests are possible, which will be resolved only by performing CVS or amniocentesis, and so also are false negative tests, which means that CVS and amniocentesis should still be considered in otherwise high-risk situations.