Abnormal antenatal test results
If a routine antenatal test or scan throws up anomalous results and these indicate a higher than usual risk of your baby having an abnormality, then you'll be offered further antenatal tests.
For example, high-risk results from the nuchal translucency test may indicate a higher risk of heart problems in the baby.
Scans for fetal heart problems
You may be referred to a fetal medicine clinic or similar for a fetal heart scan (fetal cardiac scan or fetal echo). The scan will be similar to the ultrasound scans that you're probably already used to.
During a routine scan, the sonographer will of course check the baby's heart, but if problems are suspected then a fetal heart scan is usually performed by a specialist (a fetal cardiologist or an expert in this field) who will be able to interpret the scan results in more detail.
There is a lot of focus on the developing baby's heart because it is much safer (and easier) to diagnose heart problems before the baby is born, so that any necessary early medical care can be planned carefully.
Sometimes, repeated scans will be booked in for the duration of your pregnancy, so that your baby's progress can be monitored.
A scan showing a problem with your baby's heart does not necessarily mean your baby will be poorly. "There really is a huge variety of heart problems, and only a few of them are untreatable," reassures one mum. "Some even resolve themselves all on their own."
Fetal MRI scans
Some conditions may require a fetal MRI scan – for example, where the baby's brain or spine needs further examination. An MRI can provide more detailed images that an ultrasound. MRI is considered very safe.
An MRI is done with a large MRI machine, and because the baby is somewhat stuck inside you, you will need to lie inside the MRI machine while the scans are done. This may feel a bit like shoving a whale inside the scanner, but there have been no recorded cases of pregnant women actually being lodged inside forever, so make yourself comfortable and brace yourself for the noise.
Bear in mind that MRI tests – particularly of the brain – are not definitive, or as one mum said: "The MRI is a picture of the brain, and only an indicator of possible outcomes."
You don't have to pursue further tests and diagnosis if you don't want to – although testing may give you a clearer picture of a possible diagnosis or indications of any problems. It will also help your medical team prepare for the birth.
Some people wish to stick to non-invasive testing such as blood tests and ultrasound scans, which do not increase the risk of miscarriage.
"Scans showed two markers for Down syndrome but we did not want invasive tests," recalls one mum, "so we asked for further more detailed scans, rather than CVS or amniocentesis."
What Mumsnetters say about abnormal antenatal test results
- One thing that an increased nuchal fold measurement can be indicative of is heart defects. The focus is so much on Down syndrome primarily and then other conditions like the other trisomies, when in fact an increased nuchal fold can indicate a number of conditions. eidsvold
- My baby boy was diagnosed with Down's syndrome at 16 weeks after an amniocentesis. He had heart surgery at four months but now is fit and healthy. Peanut08
- The MRI was OK, it was noisy but not too bad. The worst thing for me was that I couldn't lie on my back because that made me feel faint, but lying on my side made it a very tight squeeze to get into the tube thingy. emkana
- The radiologist actually talked us through the images within half an hour of taking them, and gave them to us to take to the obstetric consultant. He phoned her to discuss them whilst we drove across town to the obstetric hospital, and we saw the obstetric consultant later that day. It was a shattering day but I was glad to get it all over with. mrsdarcy
- My daughter had a very ugly MRI with pretty dire predictions - she should be doing far less than she is! MRIs are an indication but not an accurate predictor of disability. Mintpattie