Fetal aneuploidy screening with a noninvasive prenatal test

A population-based register study from the Netherlands has found that the percentage of pregnant women opting for fetal aneuploidy screening reached a high of 45.9% within 1 year after the introduction in 2017 of a noninvasive prenatal test (NIPT) as a first-tier test for all women.

However, the study in the journal Acta Obstetricia et Gynecologica Scandinavica (AOGS) also concluded that the demand for screening stabilized within that first year.

“In the Netherlands, we have had a national government-funded screening offer for fetal aneuploidy since 2007,” said senior author Lidewij Henneman, PhD, a professor of patient perspectives at Amsterdam University Medical Center in the Netherlands, and co-director of the Amsterdam Reproduction & Development Institute. “However, the uptake is relatively low compared to other European countries.”

The authors, members of the Dutch NIPT Consortium, wanted to know how the introduction of a NIPT in 2014 as a second-tier test and in 2017 as a first-tier test impacted the uptake of fetal aneuploidy screening in their country.

Data from all pregnant women choosing to have a first-trimester combined test (FCT) or first-tier NIPT between January 2007 and March 2019 were retrospectively collected using national registration systems. Fetal aneuploidy screening included both FCT and NIPT.

Between 2007 and 2013, FCT uptake increased from 14.8% to 29.5% (P = 0.004), whereas FCT uptake rose from 29.5% in 2013 to 34.2% in 2015 (P < 0.0001) following the debut of NIPT as a second‐tier test for high‐risk women after FCT.

However, after the introduction of NIPT as a first‐tier test for all women in 2017, FCT uptake declined significantly from 35.8% in 2016 to 2.6% in 2018 (P < 0.0001).

But NIPT uptake increased to 43.4% in 2018.

“Before the introduction of NIPT, concerns were raised about the possible routinization of NIPT or its uncritical use, due to the favorable test-characteristics such as its relative ease, accuracy and noninvasiveness,” Henneman told Contemporary OB/GYN. “We have shown an increase in total fetal aneuploidy screening after the introduction of NIPT from 29.5% in 2013 to 46% in 2018, implying that women still retain the freedom to decline screening.”

Fetal aneuploidy screening also stabilized at 46% between April 2017 and March 2019.

Several other countries have started initiatives to integrate a first-tier NIPT into their national screening programs and may learn from the experience of the Netherlands, according to Henneman. “Though our findings are specific to the Netherlands, they have important implications for other countries, with or without national screening programs, and highlight the importance of a centralized approach that ensures uniform counseling, access and quality,” she said. “However, ongoing evaluation and monitoring remains essential.”

Henneman supports prenatal screening for fetal aneuploidy, as long as it is offered in such a way that enables pregnant women to make informed reproductive decisions. “This is our goal in the Netherlands,” she said. “It is a woman’s own choice to decide, after counselling, whether to have screening or not.”

The authors advocate that pregnant women and their partner make their own decisions to screen or not. “Therefore, high-quality counseling for screening is imperative to ensure that women are free to make decisions that are in line with their personal values,” Henneman said.

Going forward, Henneman expects that NIPT will detect more conditions, such as fetal-maternal risk factors and treatable infectious diseases.

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Henneman reports no relevant financial disclosures.

Van der Meij KRM, de Groot-van Mooren M, Carbo EWS, et al. Uptake of fetal aneuploidy screening after the introduction of the non‐invasive prenatal test: a national population-based register study. AOGS. Published online January 19, 2021. doi:org/10.1111/aogs.14091