New Technology for Fetal Abnormality Screening on the Horizon!
A recent statement issued recently by the NHS Antenatal & Newborn Screening Programme to health professionals draws attention to the new technology that is on the horizon.
Current screening for abnormalities in pregnancy relies mostly on ultrasound scans, maternal blood tests and invasive procedures including amniocentesis and chorionic villus sampling. The choice of the test depends on what is being screened and in most cases, an ultrasound scan and mother’s blood test will be sufficient. In cases where Down’s syndrome (and other chromosome disorders) for example needs to be excluded, amniocentesis or chorionic villus biopsy may be undertaken. These later procedures are invasive and can lead to a miscarriage of a perfectly normal baby.
The nuchal test, combining ultrasound and maternal blood test has been the most advanced non-invasive screening test to-date. The test is mostly available privately.
Recent developments refer to techniques that exploit technology that allows capture and study of fetal cells retrieved from the mother’s blood stream in early pregnancy. Although such techniques are not entirely new, the scope of the clinical application may go well beyond the determination of the baby’s gender and blood type, particularly Rhesus.
The statement by the Antenatal and Newborn Screening Programmes emphasises the point that this is early stage and further scientific research is being undertaken to establish the suitability and scope of the emerging methods before they are introduced in the NHS.
Independent providers, like One Stop Clinics are likely to be the first companies to introduce the screening services in the private sector before the NHS adopts the technology.
Joe Kabukoba
March 22nd, 2009 at 9:28 pm
Dear All,
I would like to share an interesting article I have just read relating to the consequences of amniocentesis in twin pregnancy.
What is known:
1. We know that amniocentesis in singleton pregnancies lead to more miscarriages of about 2% above that expected in the general pregnant population.
2. We also know that miscarriages are more common in twin (and other multiple pregnancy) than in singleton pregnancies.
What is NEW.
The paper just published in the American Journal of Obstetrics and Gynecology reveals the impact of amniocentesis in twin pregnancies. It has now been shown that the miscarriage rate is just below 2% over and above the background risk in twin pregnancies. This means, amniocentesis is a much more hazardous procedure in twins than in single pregnancies.
Therefore the technology that makes amniocentesis obsolete, such as blogged here earlier a few weeks ago, would be most welcome. Nuchal scanning technology was a great advance, let us hope fetal blood harvesting will add to the efficacy.
Joe
Reference:
Cahill AG, Macones GA, Stamilio DM, et al. Pregnancy loss rate after mid-trimester amniocentesis in twin pregnancies. Am J Obstet Gynecol. 2009 Mar;200(3):257.
April 11th, 2009 at 6:51 pm
Further news is emerging on the new technology for fetal screening. Labmedica (http://tinyurl.com/ct7tln) have provided further insight into how the commercial arrangement have been finalised between Sequenom (SCMM; San Diego, CA, USA) and PDI (Saddle River, NJ, USA). Although the potential is great for the technology to be applied to several fetal diagnostic areas, it appears early applications will involve Downs screening and Rhesus isoimmunization. The advantages for adopting this non-invasive technology is massive, not least avoids the risk of miscarriage now being faced by women who have to undergo amniocentesis. What is not clear from the statement, but I will be searching this a bit more, is whether the the technology has the capability to monitor the severity of Rhesus disease or not. Current technology is cumbersome and involves both ultrasound, and testing maternal blood. At some stage, amniocentesis is again required to assess baby’s red blood cell destruction in pregnancies that are seriously affected.
I know several couples who have lost a number of babies from this disease or who had to undergo intrauterine fetal blood transfusion. These procedures are undertaken in specialist centres only. Thank God, rhesus disease is now uncommon due to the program of administering immunoglobulins to mothers at risk of sensitization from their rhesus positive babies (a baby whose blood group is Rhesus positive in a mother whose blood group is Rhesus negative).
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July 12th, 2009 at 11:11 am
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July 16th, 2009 at 1:16 pm
Very informative post. Thank you.