3-5% of all babies will be born with a major abnormality.

70% of these are due to structural malformations of various organs. 20% of these are caused by genetic conditions, Down syndrome, for example. 3% are caused by functional or developmental anomalies. Finally, some perfectly formed babies are affected by external factors like infections, alcohol or chemicals. This fortunately is rare.

Early detection of fetal anomalies is possible.

Ultrasound examination of the baby and maternal blood screening tests have allowed us to detect close to 80% of these abnormal babies.

What are the benefits of early detection?

As in most aspects of our modern lives, information is vital and helps us help you. Fetal abnormality is the 2nd most common cause of baby deaths, after prematurity. Fetal abnormality is also one of the leading causes of chronic health conditions after birth. Early detection may help in the following ways:

1

Life-saving treatments while still in the womb. Certain conditions like fetal anemia (low blood level), diaphragmatic hernia, hydrothorax, bladder outlet obstruction and some others are treatable. Treatment while the baby is still in the womb may be lifesaving.
2

Planning the delivery. Certain structural abnormalities require specialized procedures or treatments right at birth. A baby with a complex heart condition, as an example, will have a higher survival chance if born in a dedicated cardiac-oriented hospital. Certain lung conditions mean the baby will almost certainly have breathing difficulties at birth. Planning for an experienced team of doctors to be available at the delivery may be life saving.
3

Some fetal anomalies are not compatible with life and doctors may discuss your options with you.
4

Diagnosis of some other conditions, Down syndrome as an example, will allow parents to come to terms with the diagnosis rather than be surprised at birth. Doctors use this information to avoid making uninformed decisions as complications are detected along the course of the pregnancy due to the diagnosis. Doctors caring for the eventual newborn know exactly the problems to expect and avoid delayed diagnosis and its consequences.

Genetics

As humans we carry 23 pairs of chromosomes – the building blocks of life. The perfect chromosome and all its genetic information results in normal formation and development. During chromosomal division in parents’ sperm and eggs and the subsequent pairing at fertilization, damage to chromosomes may happen. This spontaneous ‘mutation’ is the most common mechanism for damage to the chromosome. Some individuals carry genetic mutations that may be passed on to their offspring. This familial mechanism is rare.

Age appears to be the most important predictor of the chance of a genetic error occurring. The older the parent, usually the mother, the higher the chance. The young are not immune, only with a lower chance.

20% of fetal abnormality is caused by genetic errors. Nature has a safety net in that most conceptions with genetic errors miscarry. A few slip past nature’s scrutiny. There are thousands of conditions caused by genetic errors. The most common is Down syndrome (DS) which also happens to be the most common genetic condition diagnosed at birth.

The First Trimester Detailed Genetic Scan (FT-Scan)

Ultrasound logically cannot study the baby’s genetic make-up. Indirectly, by certain observations and measurements during an ultrasound assessment, many genetic errors can be set aside. The FT-Scan is performed between the 11+0 and 13th +6 weeks of pregnancy. During the FT-Scan the following are observed or measured:

  1. Nuchal translucency (NT)
  2. Nasal bone
  3. Fetal heart rate
  4. Tricuspid valve regurgitation
  5. Ductus venosus flow

Other information that the FT-Scan is able to provide includes:

  1. Accurate dating of the pregnancy.
  2. The heartbeat confirmation
  3. Some major structural abnormalities can be detected at Aseana at this early stage.
  4. Pregnancy risk – Detection of the high-risk pregnancy. Ask for more information.

A normal scan can give a high confidence that the chance of many genetic errors is low. This is a subjective assessment. What about Down Syndrome?

A normal FT-Scan at Aseana means the chance of you carrying a baby with DS is now reduced by 70%. This is so because 30% of DS babies are normal on the FT-scan. For example, a 35 year old woman has a 1:250 chance of having a baby with DS. A normal FT-scan would make the chance now reduced to 1:850. However, there will be no specific DS information on the report as this is a subjective ultrasound examination.

DS risk calculation is an option that is available to you after the ultrasound assessment. The specific risk calculation for DS, Edward syndrome and Patau syndrome can be calculated instantly if you opt for this information. This is known as the ultrasound First Trimester Screening or uFTS. Aseana is an accredited centre and is online with the fetal medicine foundation UK. We are able to provide you with instant DS risk calculation that has an 88% detection rate.

There are yet other options with higher accuracies for the detection of DS.

Table of Screening Tests for DS

1 FTScan Basic If all measurements are normal, the risk of DS is reduced by 70%. Many other rarer genetic syndromes can be excluded. No specific risk calculation in report. RM 250
2 FTScan + risk calculation

(uFTS)

 Detects 88% of DS babies. Specific risk calculation provided instantly in scan report. RM 100 add on
3 FTScan report + blood test (combined FTS or cFTS) Detects 95% of DS babies. RM 300 add on Lab Cost
4 Fetal DNA – NIPT

Panorama (USA)

 Detect 99.99% of DS babies with simple blood sample from mom. RM 1800
5 Confirmatory testing Amniocentesis and chorionic villous sampling are procedures for sampling fetal cells for direct testing for a confirmatory result. Risks involved. HQ only

All FT-Scan based options (1,2 and 3) are spesific to week 11 to 13 only
cFTS result usually reported within 3 days.
Fetal DNA (4) can be performed from week 9. Result is reported within 10 days.
Please ask for more information should you require.
Additional cost for blood sampling may apply.

Decision Guide
  1. FT-Scan as basis and general genetic screen recommended for all.
  2. You have the other options for DS should you choose.
  3. You may choose NIPT as it is the best test available.
  4. Or you may be practical and choose the uFTS to start and use this as a guide to further it with cFTS or NIPT depending on the uFTS risk provided.
  5. Aseana endorses cFTS as a minimum for DS screening.
  6. The choice is ultimately yours to make. Please ask for guidance should you require.
  7. Rarely the option to directly proceed to confirmatory testing may be the best choice for you.