The Role of Diagnostics in Fertility and Pregnancy

Article about how advanced screening and diagnostic tests empower patients to make the best decisions provided by Roche. 


Every mother-to-be hopes for a healthy baby. Whether she is trying to get pregnant or is pregnant already, it is likely she has some concerns such as infertility, preeclampsia, and Down syndrome.

The good news is that advanced diagnostic tests can equip women and their doctors with the information required to predict, diagnose, and manage many of these conditions.

Roche recognises the enormous value of sensitive and reliable diagnostic information throughout pregnancy. Its commitment to constant innovation has yielded a portfolio of fertility and maternal tests that deliver highly accurate results to relieve uncertainty and support early and appropriate decisions.

Fertility issues are common and often treatable

Fertility issues affect 1 in 10 couples globally1 and can be a significant burden on couples in many ways, from psychological stress to the financial burden of high out-of-pocket costs of treatment.2 Male and female factors contribute equally to the ability to become pregnant.1  Understanding these factors empowers couples to make decisions about when to start planning for a family and the options to consider if there are fertility problems.

Diminished ovarian reserve is one of the major cause of infertility.3 As couples are waiting longer to have children, this becomes an important factor, as it is known that the ovarian follicle pool declines with age.4-7

At birth, women have about 2 million eggs in their ovaries. This is all of the eggs they will make in their lifetime.  As women age, the number of eggs suitable for a viable pregnancy decreases in quantity and quality.7 Ovarian reserve test results give insight into the remaining quantity of eggs and the number of fertile years a woman has left.4

AMH testing can guide personalised fertility treatment

Anti-Müllerian hormone (AMH) is a very important and accurate marker of ovarian reserve. AMH testing can help physicians determine how many eggs remain in the ovaries and the likelihood of response to In-vitro Fertilization (IVF) drugs. AMH is produced in the growing follicles.4-6

An AMH test is a simple blood test and can be undertaken at any time of the menstrual cycle. It can be performed in a lab, hospital or specialised clinic and quickly and accurately delivers clear and reliable measures of AMH levels. Results are automated and don’t rely on a sonographer’s reading, which is required with antral follicle count (AFC), another method used to assess ovarian reserve.

AMH testing helps doctors guide patients on the course of treatment to help maximise the chances of conception while minimizing cases of Ovarian Hyper Stimulation Syndrome (OHSS), which may result in hospitalization and adverse events. New research is showing that it is possible to personalise the dosage of human recombinant follicle-stimulating hormone (rFSH) to be administered to women who are having their eggs harvested for IVF based on a woman’s specific AMH level.8,9 This may allow more couples to conceive through IVF.

Preeclampsia diagnosis

Preeclampsia affects about 8.5 million women a year globally,10 or about 1 in every 20 pregnancies.11Worldwide about 76,000 pregnant women die each year from preeclampsia and related hypertensive disorders.12  An easy-to use, novel test has been developed that can predict which pregnant women with suspected preeclampsia will and will not develop the condition with greater accuracy than standard diagnostics, giving doctors the confidence to send healthy women home safely and to focus care on women who are more likely to develop preeclampsia.13

Non-invasive testing for Down syndrome

Pregnant women are routinely encouraged to have screening for Down syndrome. Traditional screening tests can miss as many as 20% of Down syndrome cases in pregnant women.14 However, a new, non-invasive, DNA-based blood test can be administered as early as 10 weeks in pregnancy, has been shown to identify greater than 99 percent of cases, and has a false-positive rate of less than 0.1%.15 This non-invasive test limits the number of unnecessary invasive procedures such as amniocentesis which are associated with a risk of miscarriage.

Diagnostics relieve the uncertainties of pregnancy through to birth

Diagnostic testing is available throughout pregnancy, from planning to gestation and post-birth. Clinicians can use diagnostics to monitor infants and pregnant women for congenital, perinatal and neonatal infections.

The accuracy of test results empowers health care professionals with valuable information to share with women and their partners and make informed clinical decisions.

“We believe it is vital that women are given the best care for themselves and their unborn baby throughout pregnancy,” said Jean-Claude Gottraux, Head of Centralized and Point of Care Solution, Roche Diagnostics. “We are working with organisations around the world to help ensure access to the latest diagnostic tools to help contribute to the lives of women and newborns at every stage.”