I've had a CVS (chorion villus sampling)last week at 12 weeks because of a raised nuchal measurement & absence of nasal bone. The rapid chromosome test (which checks for trisomy 21-Down's syndrome, trisomy 18-Edwards syndrome and trisomy 13 Patau's syndrome) came back normal but I'm waiting for the full test. What does it mean if the nasal bone is absent?

Absence of the baby's nasal bone at 12 weeks can mean a higher risk of chromsomal or genetic problems in baby, alternatively it can be of no significance-some normal babies have apparently absent nasal bones at 12 weeks. Furthermore, the nasal bone is almost certainly less obvious in certain ethnic groups-for instance where parents are of Oriental origin. If it appears 'absent' at 12 weeks in otherwise normal babies, it can always be seen on a scan at 16 weeks. So wait for the full chromosome test results (full karyotype) and you'll normally be offered a detailed scan at 16 weeks too-if these tests are normal, the chances are that baby is normal too.
What does a nuchal scan show?

"Nuchal" means neck; nuchal ultrasound is carried out at 11 to 14 weeks to look at thickness of a certain area at the back of the fetus'' neck. A particularly thick nuchal pad has been linked with a higher risk of suffering from heart defects, Down syndrome, or some other chromosomal problem. A nuchal scan may follow or be followed by an AFP3, or Triple test, to gain more insight into possible problems. Subsequent amniocentesis, or another invasive diagnostic procedure will help confirm or rule out these problems. Ask your doctor for a complete explanation of all procedures.

What the scan shows The picture shows a normal fetus. The dotted lines indicate where the nuchal pad would be thicker, as in Down syndrome.

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