DOWN’S SYNDROME SCREENING

(NUCHAL SCAN)

OMNI offers Down’s syndrome screening to women of all ages (above and below 35 years)

The vast majority of babies are born normal. However, all women have a small risk of delivering a baby with Down’s syndrome. This is the most common chromosomal abnormality known. Down’s syndrome screening or the Nuchal Translucency (NT) scan is a non-invasive way of determining if the pregnancy is low or high-risk for Down’s Syndrome. This is a screening test which does not harm the baby and estimates the risk of your baby having Down’s syndrome. You and your partner can then decide if the risk of your fetus having a chromosomal abnormality warrants having an invasive test such as chorionic villus sampling (CVS) or amniocentesis. These invasive tests will give you a definitive answer, but also carry a small risk of miscarriage (0.5 – 1.0%).

The Nuchal Translucency Scan

The main part of the NT Test involves an ultrasound scan. You should drink normally before arriving but do not empty your bladder 30 minutes before the scan. The scan is usually done through your tummy, but depending on the position of your baby and your womb, occasionally it is necessary to perform a vaginal scan, which will give better views. There is no risk to you or your baby and it should not be too uncomfortable. The NT is a collection of fluid under the skin at the back of a baby’s neck that can be measured using ultrasound. All babies have some fluid, but in many babies with Down’s syndrome, the NT is increased. NT Scans are usually performed between 11 weeks and 13 weeks + 6 days gestation.

OMNI sonographers are accredited with the Fetal Medicine Foundation to perform NT Scans. We will examine the skull and brain, the nasal bone, the arms, the legs, the stomach, the spine, the abdomen and the bladder. During the NT Scan, several measurements are taken:

  • The crown rump length (CRL) is the distance from the top of baby’s head to the bottom of the spine. This will enable us to accurately calculate how pregnant you are and therefore know the estimated date of delivery
  • The fetal heart rate will be measured
  • The NT Measurement This is the fluid filled space behind the neck that is present in all fetuses

The accuracy of this test is increased by measuring the level of two placental hormones in the mother’s blood (free hCG & PAPP-A). These hormone levels should be measured between 10 weeks and 13 weeks gestation.

The risk of having a baby with Down’s syndrome is calculated by combining the maternal age, the thickness of the NT Measurement, the length of the baby and the levels of two placental hormones in the mother’s blood (free hCG & PAPP-A).

The vast majority of women who undergo the combined NT/biochemical test have a low-risk for Down’s syndrome, i.e. a calculated risk less than 1 in 300. About one in 20 women will be given a high-risk, and the vast majority of these go on to have a normal baby. Even with a risk as high as 1:5, the baby has four out of five chances that he/she does NOT have Down’s syndrome. Nevertheless, should your pregnancy have been labelled high-risk, you will probably feel anxious and perhaps unsure of what to do.

The only way to know for certain if your baby has Down’s syndrome or another chromosomal abnormality is to have a diagnostic test such as CVS (Chorionic Villus Sampling) or amniocentesis. This decision can be very difficult, but you do not have to decide in a hurry. If you are unsure what to do, you can wait until 15 weeks and have an amniocentesis then if you wish. OMNI will provide more information if you need it.

OMNI Ultrasound & Gynaecological Care

Condous performs Advanced Endosurgery procedures for women needing intervention for pelvic masses, adnexal pathology, severe endometriosis or hysterectomy. He also runs ‘Hands on’ Live Sheep Laparoscopic Workshops for gynaecologists at Camden Veterinarian School.
Having completed an undergraduate degree with the University of Adelaide, he left Australia in 1993 and moved to London where he completed his training in Obstetrics and Gynaecology. From 2001 to 2003 Condous worked as a Senior Research Fellow at St George’s Hospital, London. At St George’s he set up the Acute Gynaecology Unit, the first in the United Kingdom. It was also during this time that he developed an interest in Early Pregnancy and especially the management of pregnancies of unknown location (PULs). Condous has developed many mathematical models for the prediction of outcome of PULs which have been featured in numerous peer review journals. In 2005, he returned to Australia where he completed his Laparoscopic Fellowship at the Centre for Advanced Reproductive Endosurgery, Royal North Shore, Sydney.

Condous was appointed as a Consultant Gynaecologist and Senior Lecturer at Nepean Hospital in 2006 and soon was made Associate Professor. In 2010, he was made Departmental Head of Obstetrics and Gynaecology at Nepean Hospital. He obtained the MRCOG in 1999 and was made FRANZCOG in 2005. In 2009, he was awarded his Doctorate in Medicine (MD), University of London, for his thesis entitled: “The management of pregnancies of unknown location and the development of new mathematical models to predict outcome”.

Condous has edited three books including the “Handbook of Early Pregnancy Care”, published over 100 papers in international journals and is internationally renowned for his work in Early Pregnancy. He is the Associate Editor for Gynaecologic Obstetric Investigation, which is a European based journal, as well as the Australasian Journal of Ultrasound in Medicine (AJUM). He is on the organising committee and is an invited speaker at the International Society of Ultrasound in Obstetrics and Gynaecology (ISUOG) Scientific meeting in Sydney 2013. His current research interests relate to the management of ectopic pregnancy, 1st trimester growth, PULs and miscarriage and the use of transvaginal ultrasound (in particular sonovaginography, to predict posterior compartment deep infiltrating rectovaginal endometriosis).Condous is also actively involved with post-graduate education including the annual running of the Early Pregnancy and Gynaecological Ultrasound Interactive Courses for Sonologists, Radiologists, Sonographers and Gynaecologists in Australia.