Baby preview: Prenatal testing under the microscope

Baby preview: Prenatal testing under the microscope

Pregnancy is often an anxious time, but in this country, mothers-to-be are offered a number of routine screening tests which can show whether they or their babies are at risk of certain health problems.

It’s important to undergo these tests, say the experts.

And if any risks are identified, more detailed tests, or special diagnostic tests, can then be carried out to identify whether any medical treatment is needed.

“Presenting for an ultrasound scan is important as many women are excited at the prospect of seeing their baby on screen and getting a photograph to show family," says Yvonne Young, clinical midwife sonographer, Midland Regional Hospital Portlaoise.

“It can help a mother to identify with her baby before she begins to experience the baby’s movements.”

An anatomy scan does provide a certain amount of reassurance for expectant parents. However, if there is a suspected abnormality, further investigations and expert opinion can be sought to assist in the management of the pregnancy and the plan for delivery.

A woman can opt out of having the scans, says Prof John Higgins, clinical director Maternity Directorate, South/Southwest Hospital Group. They can talk to their doctor or midwife, so they can make an informed choice, he says.

However, the test results can determine how a pregnancy is managed. “Clinical practice will vary depending on the outcomes of these investigations,” he says.

While women are seeking reassurance when they undergo scans during pregnancy, he says, they also wish to be informed of the safe continuance of their pregnancies and to assess the health and well being of themselves and their baby.

Essential information

Prof Fergal Malone, master of The Rotunda Hospital, believes that some tests are vital.

“The dating pregnancy scan, for example, is essential," he says.

"The anomaly screening scan at 20 weeks, which most maternity hospitals offer is a very good idea because it is crucially important to know in advance if a baby has an abnormality.

“This has an impact on the care the woman has and also where and when the baby should be delivered,” he says.

Knowledge of a foetal abnormality is crucial to giving the right care to the woman and to making sure she delivers her baby in the right environment and with the right support.

“Every pregnant woman should have an anomaly scan,” he says, adding that in his experience, most women are very willing to undergo the necessary scans and tests.

“We have carried out surveys of patents in our clinics and up to 80% of women say that if a test is available they will do it.

The screening blood tests picks up about 99% of cases of Down syndrome. The anomaly scan picks up about 70% of Down syndrome and heart defects and 80% of cleft lip and about 95% of spina bifida cases.

The area of pregnancy scans and tests is a complex one - and one which recently hit the spotlight after it emerged that an independent review is to be conducted into the case of a termination carried out for reasons of fatal foetal abnormality, where a test later showed no abnormality was present.

The National Maternity Hospital in Dublin is planning to have a review held into the circumstances of an abortion carried out in the hospital last March.

The review is expected to be carried out in response to a complaint made by a couple who attended the hospital.

Dating scan

Everyone is generally offered a free dating ultrasound scan which is carried out before 10 weeks’ gestation, explains Prof Malone.

“The aim of this test is to date the pregnancy and decide what the due date is. In rare cases, it will highlight the presence of twins or a miscarriage,” he says.

The second scan, and one that everyone should be offered, says Prof Malone is the anomaly scan, which takes place at around 20 weeks gestation.

It is usually free. This is a head-to-toe scan to ensure that the foetus is normal and the aim is to pick up issues with the heart or problems with the spine or, for example, a cleft lip, or kidney or bladder problems.

However, he adds, although most of our 19 maternity hospitals offer it, not all do - in fact, research carried out in 2016 showed that about one-third of women in Ireland are not offered this test.

“The Rotunda, for example, has offered it routinely for years and the big city hospitals in Cork, Limerick, Galway and Dublin offer it,” says Professor Malone.

Since 2016, he says, the situation has improved in the Rotunda Hospital Group. “For example, in 2016 no anomaly scans were available in Cavan or Drogheda and now they are being provided there.”

The situation has also improved in the south of the country, says Prof Higgins. Since early October 2018, all women attending CUMH are receiving routine detailed foetal anomaly scans.

And, since mid-December 2018, the Maternity Directorate of the South/Southwest Hospital Group (SSWHG) have been able to offer all pregnant women equal access to a mid-trimester fetal anatomy scan carried out between 21-23 weeks, irrespective of where they live.

The SSWHG operates four maternity units, including Cork University Maternity Hospital (CUMH), alongside the maternity units in University Hospital Waterford (UHW), University Hospital Kerry (UHK) and South Tipperary General Hospital (STGH).

Equal access to maternity services across CUMH, UHW, UHK and STGH is key for us in the Maternity Directorate. Together we deliver one in five babies nationally.

“Thanks to the support of the National Women and Infants Health Programme, we can now offer pregnant women equal access to the same high standards and quality of ultrasound services irrespective of where they live,” says Professor Higgins.

Private patients are not offered more prenatal testing than public patients. “ All pregnant women have equal access to a mid-trimester fetal anatomy scan carried out between 21-23 weeks,” he says.

Risk evaluation

Also available for pregnant women are blood-screening tests, of which there are two.

“They evaluate the risk a condition such as Down syndrome, and are offered in some hospitals to all patients,” says Prof Malone.

These tests, for example, have a 99% detection rate for Down syndrome. However, he points out, this test is opt-in, and there is a charge - the NIPT or Panorama test can cost up to about €450 each.

“There is no public health service funding for screening for genetic abnormalities. It’s not part of the free public health services,” he says, highlighting that these are not diagnostic tests.

"However if a woman has a screening test and it comes back showing a high risk, then she has the option of taking a diagnostic needle test which provides 100% accuracy in terms of information about what is happening with the baby.”

Baby preview: Prenatal testing under the microscope

These diagnostic tests are offered free of charge in several maternity hospitals, says Prof Malone who believes the screening test should also be offered free to all 60,000 women who annually become pregnant in Ireland.

However, he acknowledges the potentially very high cost of such a service - providing such free screening would cost in the region of €25m.

“In the Rotunda, we provide information on the test to every woman, public or private, and tell them what tests are available. If they want to have a screening test they can opt to have it.”

No test can be 100% accurate. “All tests, whether scanning or diagnostic, have associated error rates," says Prof Higgins. "We try to provide comprehensive written information to women on tests during pregnancy so that they have some perspective on the reliability of any test result.”

It is key to look at the results of a number of tests to build a picture.

“Combining results from several tests can generate a more accurate picture. For example, scans can be combined with blood tests like NIPT or more invasive procedures like amniocentesis,” says Prof Higgins.

Counselling care

In the Rotunda hospital, patients receive counselling around their test results, says Prof Malone, which he describes as a "very complex area".

“There are so many different test that the mind boggles.

"It’s understandable that a patient can become confused about a test,” he says, adding that if a test comes back showing results that are a cause for concern, it’s important that parents-to-be sit down with a specialist who knows the area and makes the decision on the basis of all the test - in other words, by looking at the complete picture.

Baby preview: Prenatal testing under the microscope

Counselling for parents-to-be in the case of a serious anomaly is considered crucial within the Rotunda Hospital Group.

“If a serious anomaly is found, the patient will come to meet with the maternal foetal medicine specialist who is a specialist consultant obstetrician.

They will discuss the accuracy or not of the test, and what is required in terms of surgery or treatment for the condition, and the options for moving forward. This person goes through all the option, what is likely to happen and treatment options.

He points to the availability of in-depth information on the new ‘RotundApp’: “You don’t have to be a patient of the Rotunda Hospital to access this app and it has all the relevant information.”

A similar high level of care is offered in the south of the country.

If a foetal abnormality is detected, the pregnant woman will be referred to a foetal medicine specialist who may perform further tests to confirm the diagnosis, such as amniocentesis," says Prof Higgins.

“They will also organise a detailed care plan for this woman, which may result in offering her services such as referral to paediatric cardiologists. If a fatal fetal abnormality is confirmed, a range of treatment options is now offered.

“Counselling services are available for all women attending Cork University Hospital who may need them.”

For more information visit the HSE website here.

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