After pathology tests showed liver inflammation, low platelet count and a large amount of protein in her blood, it was clear to doctors that Kate had HELLP syndrome –  without a moment’s delay she was transferred by ambulance to the Women’s and Children’s Hospital in Adelaide.

HELLP syndrome is a life-threatening pregnancy complication usually considered to be a more serious variation of pre-eclampsia. It normally occurs in the later stages of pregnancy, and sometimes after birth.

HELLP syndrome is named after its characteristics:

H (haemolysis, which is the breaking down of red blood cells)
EL (elevated liver enzymes)
LP (low platelet count)

Platelets are needed for effective clotting of the blood and red blood cells carry oxygen and nutrients to the organs including the brain.

HELLP syndrome places mother and baby at risk. The flow of nutrients to the baby in utero can be affected, meaning the baby’s growth can be delayed. The mother is also at risk of organ damage, liver rupture and stroke.

Most often, the definitive treatment for women with HELLP Syndrome is the delivery of their baby however this was not possible for Kate due to the low platelet count of her blood, preventing it from clotting during birth. The only solution was to monitor her blood for 24 hours which required pathology testing every hour. Thanks to the speedy work of the hospital’s pathology team, her results were ready within 30 minutes.

At one point, Kate’s complications took a turn for the worse; not only was her liver failing but her kidneys were shutting down which led doctors to consider a blood transfusion. Much to everyone’s relief, Kate’s blood platelets eventually returned to a safer level and she was rushed into theatre for an emergency C-section to deliver her son, Theo.

“As soon as Theo was born my condition began to improve. I was admitted to the high-dependency unit while Theo was being monitored in the NICU. Luckily, his signs were good and doctors were confident he was going to make it – and so was I.”

Two years later, Kate was pregnant with her second child. She knew she had a 50/50 chance of developing HELLP syndrome again. At 24 weeks, doctors were performing blood tests every two days. After one of her tests revealed HELLP syndrome, Kate was admitted to hospital within half an hour. A combination of close monitoring, corticosteroids and further tests ensured a safe delivery for Kate’s daughter Tessa. Like her brother, Tessa weighed less than 600 grams, and after 6 months in the NICU, Kate was able to bring her home to meet the family.

Today, Kate enjoys a happy life with her Partner Simon and their three children in Mount Barker, SA. She looks back on her time in hospital with a mixture of awe and gratitude: “I will always be grateful to the amazing pathology teams at the Women’s and Children’s Hospital in Adelaide who saved mine and both my babies’ lives. With my bloods taken hourly in the lead up to both deliveries, pathology was one of the most important factors in the birthing process.”

HELLP syndrome, symptoms and diagnosis

 HELLP syndrome may be associated with other signs of pre-eclampsia, such as high blood pressure, protein in the urine and swelling of the hands, feet or face. However, this is not always the case, and this may make diagnosis more difficult. Women with HELLP syndrome often complain of a pain in the upper abdomen below the ribs, which is indicative of a tender liver. There may also be heartburn, vomiting and headache. The upper abdominal pain of HELLP syndrome can be very severe, and is not relieved by simple remedies such as antacids, which would be the case if heartburn, for example, was the cause of the pain.

The diagnosis of HELLP syndrome can be made by blood tests which examine liver enzymes, red blood cells and platelets. As with typical pre-eclampsia, delivery is required to cure HELLP syndrome, irrespective of the stage of the pregnancy and maturity of the baby.

HELLP syndrome can be associated with a bleeding tendency secondary to a deficiency of platelets, so it may be necessary to administer platelet transfusions. This can be particularly important before undertaking any surgery, such as a Caesarean section.

While this is a very dangerous condition, with early detection via pathology testing and quick treatment, the outcome can be fine for mother and baby.

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• Trimester 1
  • At 6-8 weeks’ pregnancy
  • After 10 weeks’ pregnancy
• Trimester 2
  • Between 15 and 17 weeks of pregnancy
• Trimester 3: Between 24 – 28 weeks
• Other tests

During pregnancy, it is common for women to experience a range of emotions and expectant mothers may feel overwhelmed by the many areas of antenatal care recommended.

Some aspects of your antenatal care involve medical tests to monitor the health of you and your baby. The following guide outlines the different tests available throughout each trimester, and the purpose of each test. Of course, every test is optional.

Trimester 1

At 6-8 weeks’ pregnancy

When you first visit your GP to confirm your pregnancy, you will be offered several blood tests. A full blood examination (FBE) will check for possible iron deficiency and thalassaemia risk. A ferritin level may be included and is more sensitive than the full blood alone to determine reduced iron stores, to make sure you’re not at risk of anaemia, which can make you tired and weak. A blood group test will determine not just the ABO group but more importantly identify individuals with a Rhesus negative blood type who should be offered therapy during pregnancy to prevent haemolytic disease of the fetus and new-born, which can lead to pregnancy loss and new-born jaundice.

You’ll also be screened for infectious disease exposure or immunity including HIV, and Hepatitis B and C which can put babies at risk of future liver disease if not treated. Testing for antibodies to rubella and chicken pox is conducted as exposure to these viruses during pregnancy can cause birth defects if you’re not immune. You can also talk to your doctor about whether testing for chlamydia, syphilis, thyroid disease and vitamin D is necessary.

After 10 weeks’ pregnancy

You will be offered the nuchal translucency test between the 10th and 14th week of the pregnancy to determine the chance of the baby being affected by certain chromosomal abnormalities such as Down syndrome, Edwards syndrome or Patau syndrome.

This combines information obtained by an ultrasound and blood tests.  The ultrasound is performed predominantly to assess nuchal translucency, the thickness of the fold at the back of the baby’s neck. Together with the maternal age, weight, gestation and blood test results, the chance of a baby affected by these abnormalities is determined. The test cannot accurately diagnose a fetus with a chromosomal condition.

Additional blood tests are also available for expectant parents with close blood relatives who carry other genetic disorders.

Trimester 2

Between 15 and 17 weeks of pregnancy

Multiple Marker Screening or Maternal Serum Screening involves a blood test that looks for Down syndrome, Edwards syndrome and neural tube defects such as spina bifida and anencephaly, in which the skull does not form properly. The screen looks for four chemicals in the blood: alpha-feto protein, unconjugated estriol, free beta hCG and dimeric inhibin A.

These results are combined with the results from the nuchal translucency test as well as other information about the pregnancy to assess the risk of a fetus having abnormalities. All tests have limitations and may not be diagnostic alone.

The full blood examination is usually repeated towards the end of the second trimester, looking for the development of iron deficiency anaemia, which is extremely high in pregnancy, as well as to check the platelet count which may sometimes fall as a result of pregnancy complications.

Non-invasive prenatal testing

Non-invasive prenatal testing (NIPT) can offer better accuracy in detecting chromosomal abnormalities. This is a blood test that tests fetal DNA released into the mother’s blood. Testing is recommended between 11 and 16 weeks and may be carried out after a woman has had the nuchal translucency test or following the results of other blood tests.

Tests such as amniocentesis or chorionic villus sampling (CVS) are also available. These are more invasive tests; amniocentesis tests fetal cells in the amniotic fluid and CVS tests cells taken directly from the placenta. Because of their invasive nature these tests carry a risk of miscarriage making NIPT a safer option.

Trimester 3: Between 24 – 28 weeks

Between three and eight percent of women will get gestational diabetes between the 24th and the 28th week of pregnancy, sometimes earlier. It usually goes away after the baby is born. A blood glucose tolerance test screens for gestational diabetes. The test uses three blood samples: the first sample is taken before a standardised glucose drink is consumed, the second sample one hour after and the third sample two hours after the glucose load. A pathology laboratory compares results from all samples to see if they indicate gestational diabetes. The condition can be managed with healthy eating, physical activity, monitoring your blood glucose levels and sometimes medication.

Rhesus negative women will also have their antibody status checked prior to receiving their first dose of anti-D at 28 weeks.

Other tests

Pregnant women may also be tested for Group B Streptococci (GBS) bacteria via a vaginal or anorectal swab at 35-37 weeks. These bacteria occur naturally in some women and are usually not harmful, however if passed on to a newborn in the birth canal, the baby can become very ill. Pregnant women carrying these bacteria can be offered antibiotic treatment during labour as a measure to help protect a baby from becoming infected.

Finally, women may also be offered pathology tests if they fall ill while pregnant or if they are in a high-risk group – particularly during the early stages of pregnancy. Certain conditions can affect the unborn baby such as cytomegalovirus (CMV), toxoplasmosis and herpes simplex virus (HSV) and pathology can diagnose these conditions so that steps can be taken to protect mother and baby.

References:

https://www.vcgs.org.au/tests/maternal-serum-screening

https://www.thewomens.org.au/health-information/pregnancy-and-birth/pregnancy-problems/pregnancy-problems-in-later-pregnancy/gestational-diabetes/

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Amniocentesis extracts fluid from the sac which surrounds the foetus inside the mother’s womb. The procedure uses a thin needle which is inserted through the mother’s skin; a local anaesthetic is usually administered to prevent pain to the mother.

Along with being invasive and possibly uncomfortable for women, the amniocentesis procedure does carry some risks. Although it is widely considered very safe and it is rare for any problems to occur, there are slight risks of infection, Rh sensitisation or spontaneous abortion. NIPT does not carry the same risks.

The benefit of this testing means parents can find out if their baby has a chromosomal condition such as Down Syndrome. This advance knowledge can help parents to prepare for their baby’s birth by being better informed about a condition and knowing how to plan for the baby’s future. This knowledge is also useful for medical practitioners in case of complications during pregnancy, birth and early infancy.

Using NIPT instead of amniocentesis is not only easier and safer for the patient but is also more cost effective. As around 5% of women will have some abnormality in their 10 week screening, using NIPT as the next step instead of amniocentesis will save money as the test is cheaper to conduct than amniocentesis – where the procedure itself can take up to 90 minutes.

The NIPT test is somewhat complex and requires a high level of expertise both in the testing process and in interpreting the results. This highlights the importance of having highly trained scientists and pathologists in laboratories to ensure that doctors are given accurate results. It is also important to have specialist input on whether the test should be done following the results from a woman’s 10 week screen.

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