testing Traditional screening
tests can miss as many as fiſteen per cent of
Down syndrome cases, so Harmony was
developed to be a more accurate prenatal screening test for all
Traditional screening tests can miss as
many as fiſteen per cent of Down syndrome cases in pregnant women, so Harmony was developed to be a more accurate prenatal Down syndrome screening test for all women, regardless of age or risk. Where conventional screening will detect approximately 70-80 per cent of pregnancies with Down syndrome, Harmony will detect over 99 per cent. Where conventional screening has a false positive rate of five per cent, Harmony's rate is less than 0.1 per cent! Tese statistics mean that Harmony not
only detects more pregnancies with Down syndrome, it also reduces the risk of unnecessary and invasive amniocentesis.
How Harmony works When you’re pregnant, your blood contains fragments of your baby’s DNA. Harmony Prenatal Test analyses this DNA in a sample of your blood to assess the risk of Down syndrome (trisomy21) and two other genetic conditions: trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome). Harmony Prenatal Test requires a single blood sample from your arm and can be done as early as the tenth week of pregnancy, with results usually available within a week. (Other commonly used tests for Down syndrome, which are performed later in pregnancy, require multiple clinic visits.) Your blood sample is sent to the Harmony
laboratory, where it is analysed. Your results are then sent to your healthcare provider in three-five working days from receipt of sample in the laboratory.
Harmony can be performed as early as the tenth week of pregnancy and involves blood being taken from the arm. While the test is optional, if it does come back as high risk, women can be referred to specialist centres for detailed cardiac scans on the baby. Abnormalities of the heart are common
in Down syndrome. Approximately half of all infants born with Down syndrome have a heart defect. Many of these defects have serious implications and it is important to understand them and how they may affect the child so that appropriate medical treatment may be provided. If the baby does have a cardiac abnormality the baby will be delivered in a specialist centre so that it is given every chance in life
Your Results Te test result will give you a clear answer about the risk to your pregnancy of having any of the genetic conditions included in the test. (Non-invasive prenatal testing based on cell-free DNA analysis is not considered diagnostic.) All results will be given to you by your
healthcare provider and will be interpreted in the context of your medical details and family history. You should continue with your usual scan appointments before and following testing.
You should also know that: •Tree out of 100 women will require a repeat test (as some women don’t have enough of the baby’s DNA in their blood to test), and
•Tese patients will not be charged if we are unable to obtain a result.
Fetal sex chromosomes Harmony Prenatal Test can also be used to evaluate X and Y sex chromosomes as early as ten weeks. You have the option to test for conditions caused by having an extra or missing copy of the X or Y chromosomes, including Turner and Klinefelter syndromes. (Tis is only available for singleton pregnancies). „
Jo Scobie is a Specialist Midwife Sonographer with over 30 years' experience in both Irish and Scottish midwifery practice. Jo completed her Master’s Degree in Midwifery at Glasgow University then followed this up with a Post Graduate Diploma in Obstetrics and Gynaecology Ultrasound from Robert Gordon University in Aberdeen. She moved back to Ireland in 2007 and is now working at Women’s Health Group in Kilkenny
www.womenshealth.ie. Jo provides first trimester scanning, Harmony NIPT, anomaly scans, third trimester growth and wellbeing scans, and 3D/4D scans. She is also Director of
www.antenatalonline.ie: online antenatal classes that can be enjoyed in the comfort of your own home and at a time convenient to you and your partner. These classes are proving particularly popular in Ireland, where a recent study showed that more than 50 per cent of fathers do not get involved in antenatal classes and 20 per cent are frightened at the birth of their child. Jo believes that this form of antenatal classes can help alleviate this through its 24/7 access, allowing prospective parents to watch each class either together - or separately - at a time that is convenient to them.
Spring 2016 MODERNMUM 13
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