ISPD 2022 debate—When offering a first trimester ultrasound at 11 + 0 to 13 + 6 weeks, a detailed review of fetal anatomy should be included

Abstract

Key points What is already known about this topic? Through the introduction of the nuchal translucency scan at 11 + 0 to 13 + 6 weeks gestation for aneuploidy screening in the 1990s, the role of the first trimester scan has evolved to include an assessment of fetal anatomy. Advances in ultrasound technology and expertise now mean that many fetal anomalies that were previously detected on the routine second trimester anatomy scan are now detected in the first trimester. What does this study add? This report summarizes the oral debate that was presented at the 22nd International Conference on Prenatal Diagnosis and Therapy in Montreal, Canada, on 21 June 2022. Our maternal–fetal medicine experts argue for and against the proposition that a detailed review of fetal anatomy should be included in all scans performed at 11 + 0 to 13 + 6 weeks gestation.

Position statement from the International Society for Prenatal Diagnosis on the use of non‐invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies

“…However, more advanced first trimester anatomy assessments require expertise that is not uniformly available outside specialist centers. 87 All patients diagnosed with a fetal anomaly should also be offered diagnostic testing with chromosomal microarray, irrespective of a prior low chance NIPT result. 85,86,88 The residual risk of a clinically significant CNV in the presence of a fetal structural abnormality varies with gestational age and ultrasound finding.…”

Current practice of first‐trimester ultrasound screening for structural fetal anomalies in developed countries

“…The CT is widely used and has the primary aim to detect fetal aneuploidy 4 . Adding anatomical evaluation to the CT in order to detect structural anomalies is feasible, but limitations include the need for trained and experienced operators and uncertain cost/benefit ratio 5–7 . Consequently, variation in the performance of first‐trimester screening for structural anomalies between countries is likely.…”

“…4 Adding anatomical evaluation to the CT in order to detect structural anomalies is feasible, but limitations include the need for trained and experienced operators and uncertain cost/benefit ratio. [5][6][7] Consequently, variation in the performance of first-trimester screening for structural anomalies between countries is likely. International variation has also been reported regarding the implementation of noninvasive prenatal test for fetal aneuploidy, where differences were found in accessibility for pregnant women, uptake rates and screening protocols.…”

Highlights of the 26th ISPD annual conference, hosted in a vibrant Canadian city along with the Montreal grand prix 2022

“…The audience remained divided on this issue, with concerns raised over limitations in scientific knowledge, workforce expertise, and health care resource allocation. 2 The final debate considered the advantages and disadvantages of only offering fetal exome sequencing in the presence of fetal anomalies. Here, the attendees were clear in their opinion and remained firmly against offering genome sequencing in the absence of fetal abnormalities, with the debaters agreeing that more research is needed to further explore the clinical utility and ethical aspects of genome sequencing for all pregnant women.…”

“…Next with first trimester trisomy/aneuploidy screening being more widely available, we debated the contentious topic of offering a more detailed early fetal anatomy scan. The audience remained divided on this issue, with concerns raised over limitations in scientific knowledge, workforce expertise, and health care resource allocation 2 . The final debate considered the advantages and disadvantages of only offering fetal exome sequencing in the presence of fetal anomalies.…”