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DNA related genetic diseases
Earliest Week: 1
Latest Week: 42
Fragile X syndrome screen
The most common cause of severe learning disability after Down’s syndrome. Intellectual impairment in boys is mild to severe; girls can be normal but a large proportion are impaired. Only mothers need to be tested. Carrier frequency 1 in 150.
Cystic fibrosis screen
A serious condition in which glands produce excessive amounts of thick mucus in the lungs and digestive tract. Treatment has improved but average life expectancy is still only 30-40 years. Carrier frequency 1 in 25.
Spinal Muscular Atrophy
A debilitating disorder that destroys the nerve cells for walking, head and neck control, swallowing and breathing. It primarily affects children and is the main genetic cause of death in infancy. Carrier frequency 1 in 60.
Alef8
Seven disorders that are relatively common in Ashkenazi Jews, plus CF, in a single blood sample. Carrier frequencies 1 in 30-100.
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Early pregnancy scan
Earliest Week: 6
Latest Week: 17
Price: £80
An ultrasound scan performed to determine if there is a viable ongoing pregnancy, the number of babies present and gestational age. If the latter is uncertain this scan can be performed to ascertain the timing of further tests.
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Fetal anomaly scan
Earliest Week: 18
Latest Week: 24
Price: £120
An ultrasound scan which examines the baby's anatomy in detail, paying particular attention to the head, spine, heart, stomach, kidneys, bladder, bowel and limbs.
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Fetal gender scan
Earliest Week: 20
Latest Week: 42
Price: £80
An ultrasound scan to determine the gender of the baby, preferably performed after 20 weeks. The accuracy is approximately 98 %.
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Fetal well-being scan
Earliest Week: 24
Latest Week: 42
Price: £120
An ultrasound scan to assess the development of the baby. By measuring the baby's head, abdomen and thigh bone the growth and estimated fetal weight can be calculated. Fetal movements, placental site, amniotic fluid and blood flow to the baby are also assessed.
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4-Dimensional scan
Earliest Week: 25
Latest Week: 42
Price: £190 Movie Package / £95 Picture Package
This will revolutionize the way you view your baby. There are two package options available.
It has been found that parents experience much pleasure and reassurance at seeing their baby move on an ultrasound scan. The bonding process with your baby should be an enjoyable experience and 4-dimensional imaging can enhance this process.
The scan is dedicated to parents seeing their baby and experiencing the many movements the baby performs within the womb.
The optimum time to perform the scan is between 22–32 weeks, but we can view the baby at earlier and later gestations with equally revealing images.
Your scan will be carried out in a room with seating for you and relatives and the image viewed via a dedicated monitor.
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AddmarkTM
Earliest Week: 10
Latest Week: 13
Price: £195
This includes a nuchal scan as described previously combined with a blood test taken between 10 – 13 weeks.
Four biochemical blood markers and the nuchal measurement are used to calculate the risk of Down’s syndrome and other chromosomal abnormalities. A second blood sample looking at a further 4 biochemical markers is offered to those patients whose risk falls between 1 in 50 and 1 in 1500. Overall the detection rate is 90% and the false positive rate of 1%.
Screen negative is final a risk less than 1 in 250.
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Nuchal+
Earliest Week: 11
Latest Week: 13
Price: £100
A first trimester ultrasound scan alone is used to assess the risk of Down’s syndrome and other chromosomal abnormalities. Risk is calculated using maternal age, the head to bottom measurement of the baby (dating scan) and the thickness of the fluid behind the baby’s neck. The overall Down’s syndrome detection rate is 71% and the false-positive rate is 2.4%.
Screen negative is a risk less than 1 in 300.
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Genmark
Earliest Week: 14
Latest Week: 22
Price: £195
A second trimester ultrasound scan measuring the nuchal fold and four biochemical blood markers are used to calculate the risk of Down’s syndrome and other chromosomal abnormalities. A risk for neural tube defects and abdominal wall defects is screened for if the blood test is taken after 15 weeks. The overall Down’s syndrome detection rate is 77% and the false positive rate is 2.8%.
Screen negative is a risk less than 1 in 250.
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CdLS (affected families only)
Earliest Week: 14
Latest Week: 22
Price: £98
CdLS is genetic disorder but the gene has not yet been identified
Cornelia de Lange syndrome (CdLS) is rare and affects between 1 in 15,000 and 1 in 50,000 babies born. It is a genetic disorder but the gene has not yet been identified.
Children with the syndrome are small at birth and remain small compared to children of the same age.
Prenatal testing of subsequent pregnancies in an affected family is possible using either genetic testing or detailed ultrasound scanning.