Antenatal screening - a clearer picture Finding out that you are pregnant can be a very exciting time. But along with the joy and anticipation comes the natural anxiety about the health and wellbeing of the baby.
According to NHS statistics, of the 700,000 women who fall pregnant each year, more than 95% of these pregnancies result in the birth of a healthy baby. But sadly, each year a small number of babies are born with a mental or physical condition, some of which can cause a lifelong handicap. Finding out about a condition during the early stages of pregnancy can make a big difference, giving you time to prepare and helping you to make the decision that’s right for you, be it organisaing any special care that your child may need once it is born, or choosing to have an abortion.
The NHS offering
At present, the NHS only offers routine screening for Down’s syndrome and for some other conditions in specific circumstances during an antenatal screening. Antenatal screening is basically a test that shows how likely your baby is to be born with certain conditions - it is not a diagnosis for an actual condition. So, a negative result does not mean that your baby will definitely be born with an abnormality - it just means that the risk of the baby developing an abnormality is high enough to consider getting a prenatal diagnosis.
Tests given by the NHS include an amniocentesis, chorionic villus (CVS) sampling or ultrasound scanning. The type of screening you get depends on the part of the country you live in, but they all have to meet national standards. An amniocentesis checks the baby’s progress in the womb, and is also used to test whether there is a chance that she may develop one of a number of genetic abnormalities, like Down syndrome, Edwards syndrome, and musculoskeletal disorders, such as Duchenne muscular dystrophy, cystic fibrosis, and spina bifida. The test is usually recommended to pregnant women aged 35-plus because the risk of the baby having a genetic abnormality increases after this age.
Ultrasound scanning is combined with a number of blood tests, spread over a few weeks, to look for conditions like spina bifida and Down’s syndrome. It looks for physical abnormalities in the baby - problems with the head, spine, limbs or even its internal organs.
A CVS checks for genetic abnormalities, and involves testing the tissue taken from a small sample of the placenta.
Diagnostic screening
This seems like a comprehensive list of tests. However, there is a host of other conditions for which these don’t provide antenatal screening. For example, Fragile X - a syndrome that is the most common inherited cause of severe learning difficulties.
You can now get diagnostic screening, which will do more than give you a screen positive or negative. An it is changing the way pregnant women across the UK benefit from antenatal screening. Genio (www.genio-screening.co.uk) is one such web-based service that offers parents-to-be the full spectrum of antenatal screening options, many of which are not available elsewhere and only form a small part of the screening offered by the NHS.
In a recent poll, which was carried out by Genio, 55% of pregnant women said that they weren’t content with the current level of antenatal screening offered by the NHS and 71% of women say that they would consider having additional screening.
Amanda Grossman, director of Genio, says: “We believe that all pregnant women and their partners should have the option of antenatal screening regardless of their age, family history or geographical location. Genio not only offers expectant parents a wide range of screening, but it also offers them the high-quality information they are telling us they need about the various conditions and risk factors . If any of the results show a high risk Genio will liaise with the woman’s medical practitioner first to ensure that they can be prepared with the right support for the parents.”
The results from Genio’s survey show that women are concerned about the risks that can affect their baby’s health and wellbeing and, as a result, 92% of women have said that they want the opportunity to have antenatal screening.
Not surprisingly, consumption of information is a key influencer of the parent’s decision to screen. Of the survey’s respondent, 95% of women say they want to educate themselves as much as possible about the conditions that might affect their baby. Worryingly, the data also shows that although these women want to get more information, it is not readily available to them. While a very small group of women were fairly well informed (often health professionals themselves), the majority gave incorrect answers to basic questions about conditions and less and 1% had ever heard of Fragile X syndrome.
Amanda Grossman said: “One of the most common misunderstandings we found, is that the risk of all fetal conditions increases with maternal age, rather than just chromosomal anomolies such as Down’s syndrome. Because of their age, many young women did not seem to perceive any risks at all.”
The Genio website has been designed as an educational guide, which gives lots of expert information to enable pregnant women, their partners and those couples thinking about having a baby, to make informed decisions.
Genio screens for the following conditions:
* Fragile X syndrome - the most common known cause of inherited learning disability. It has an estimated occurrence of between 1 in 4,000 to 9,000 males and 1 in 7,000 to 15,000 females.
* Down’s syndrome - Children born with Down’s syndrome are slower than average to develop, but may grow up to lead independent and fulfilling lives. This condition affects 1 in 700 babies and is untreatable.
* Edwards’ syndrome - this affects 1 in 3,000 and the baby is likely to die in the first few weeks.
* Cystic fibrosis - about 5 babies each week are bron with Cystic fibrosis and will need lifetime treatment.
* Neural Tube Defects: with Spina bifida (which affects 1 in 1000 pregnancies) this means the child will be disabled; with anencephaly (which also affects 1 in 1000 pregnancies), the child will not survive.
* Abdominal Wall Defects e.g. exomphalos, affect 1 in 2000 and is operable.
* Cornelia de Lange syndrome (tested in affected families); this is a rare condition affecting mental and physical development in a currently estimated 1 in 10,000 births.
The testing process is also able to detect other, rarer conditions, which will be reported if found. Screening for Fragile X and cystic fibrosis can even be carried out before a pregnancy exists, as it is the parents who are screened to see if they are carriers of the condition, not the baby.
Testing is very straightforward. You choose the test that you want via the website and Genio will send you a pack. All tests require a blood sample from the pregnant woman, which will need to be taken by a GP, nurse or midwife, which is then returned to Genio in the special pack. For cystic fibrosis screening, a blood sample is also required from the father.
It’s important that people are aware of the differences between diagnostic testing and antenatal screening. Antenatal screening estimates the risk of having the disorder, for a specific woman, with a specific pregnancy. Screening is not diagnosis, rather it aims to provide information to help decide whether diagnostic testing (such as amniocentesis) is warranted.
Diagnostic testing establishes whether or not a disorder is definitely present in the foetus. Screening for cystic fibrosis and Fragile X is slightly different in that it aims to establish the carrier status of the parents, and thus the risk of producing a child - from any number of pregnancies - with the condition.
Once the test is selected, Genio provides a wide range of screening and scanning options wherever people live.
Amanda says: “Genio offers people, for the first time, the freedom to choose the level of antenatal screening they feel is appropriate.”
Amanda concludes: “We understand that every pregnancy is different. So whether you are pregnant for the first time, planning a family or are an older mother, pregnancy is an experience like no other.”
