Pregnancy Bliss | Reproductive Health Answers
Nuchal fold thickening
Thickening of the skin at the back of the neck or the nuchal fold comes about as a result of oedema. Up to 85% of babies with Down’s syndrome and other chromosomal disorders will have significantly increased nuchal fold thickness at the end of the first trimester and beginning of the second. Measuring nuchal fold thickness using ultrasound remains the single most predictive marker in pregnancy. This type of ultrasound is commonly known as ‘a Nuchal translucency scan’ or ‘Nuchal scan’ for short.
Many hospitals in the UK and other countries are now offering this as a standard screening tool for Down’s syndrome. By itself, a nuchal scan is able to detect around 65% of Down’s syndrome affected babies. To increase accuracy, it is usually combined with a blood test to look for levels of specific hormones. This pushes the predictive value to around 80%. There is still a false positive rate of around 5% from a nuchal scan and therefore around 1 in 20 of those babies found to have an abnormally thick nuchal fold will actually be normal.
For a nuchal scan to be useful, it needs to be done at 11-13 weeks of gestation. Beyond that, physiological adjustments will tend to make the fluid accumulation at this part of the body resolve. This is therefore regarded as a crucial window of opportunity in modern obstetric practise.
Echogenic intracardiac foci (‘Golf balls’ in the heart)
An echogenic intracardiac focus (or foci, if more than one) describes a small bright ball-shaped area seen on a scan. This scan image is what gave rise to the nick-name ‘golf balls’ in the heart. The heart tissue appears grey and these areas stand out by being brighter, almost white, and comparable to the appearance of bony structures.
Echogenic intracardiac foci (EIF) or ‘golf balls’ in the heart are seen in anything up to 4% of all second trimester scans. It is thought that the cause of this finding is presence of deposited calcium within the papillary muscles of the heart. These are the muscles that control the heart valves.
In the majority of cases, presence of an echogenic intracardiac focus in isolation will be innocent. However, its finding should and would normally trigger a careful search for any other soft marker. If none is found, and there is no other risk factor such as advanced maternal age or family history; no further action is necessary. Finding of another soft marker is an indication to offer a diagnostic test such as amniocentesis as the likelihood of a chromosomal disorder such as Down’s syndrome is significant.
Scan at 12 weeks showing nuchal fold thickening