The August issue of Ultrasound in Obstetrics & Gynecology includes a series of papers on fetal cerebral Doppler assessment in the context of fetal growth restriction, including the TRUFFLE-2 feasibility study, as well as a study on the contribution of single-gene defects to congenital cardiac left-sided lesions in the prenatal setting, a study on serial endometrial thickness and the risk of non-endometrial hormone-dependent cancers in postmenopausal women, and new ISUOG Practice Guidelines on the diagnosis and management of small-for-gestational-age fetus and fetal growth restriction.
Fetal cerebral Doppler changes and outcome in late preterm fetal growth restriction: prospective cohort study
In late fetal growth restriction (FGR), there is no consensus on how to identify the fetus at risk for compromise, and an evidence-based monitoring strategy remains to be defined. As part of the design process for the TRUFFLE-2 randomized trial for determining optimal timing for delivery in the context of late preterm FGR, Stampalija et al. undertook a prospective observational feasibility study to determine which thresholds for umbilical and middle cerebral artery Doppler are most strongly associated with adverse perinatal outcome in late preterm singleton pregnancies at risk for FGR. It was found that signs of cerebral blood flow redistribution are associated with adverse outcome in these pregnancies. Whether cerebral redistribution is a marker describing the severity of FGR or an independent risk factor for adverse outcome remains unclear, and whether it is useful for clinical management can be answered only in a randomized trial.
The data from this feasibility study were used to inform a consensus process for determining the Doppler thresholds for the TRUFFLE-2 randomized trial. The results of this process are reported in an article in this issue of the Journal.
Contribution of single-gene defects to congenital cardiac left-sided lesions in the prenatal setting
Congenital cardiac left-sided lesions (LSLs) have a disproportionately high contribution to the costs of long-term disability and mortality arising from CHD. When associated with genetic abnormalities, the prognosis of LSLs is much worse. Sun et al. explored the contribution of single-gene defects to the genetic cause of cardiac LSLs and evaluated the incremental diagnostic yield of whole-exome sequencing (WES) for single-gene defects in fetuses with LSLs without aneuploidy or a pathogenic copy-number variant. Single-gene defects were found to contribute substantially to the genetic etiology of fetal LSLs. KMT2D mutations accounted for approximately 10% of LSLs in the cohort. The authors conclude that prenatal WES should be performed to identify potential diagnostic genetic variants and facilitate perinatal decision-making and management in cases in which conventional tests are not diagnostic.
Serial endometrial thickness and risk of non-endometrial hormone-dependent cancers in postmenopausal women in UK Collaborative Trial of Ovarian Cancer Screening
Whilst increased endometrial thickness (ET) is well-established as an early detection marker for endometrial cancer, ET could also be a potential risk marker for other hormone-sensitive cancers. Using a prospective cohort design in the ultrasound arm of the United Kingdom Collaborative Trial of Ovarian Cancer Screening (UKCTOCS) and a joint model of longitudinal and time-to-event data, Burnell et al. explored whether ET measurement at baseline, or serial change over 11 years of screening, is associated with the risk of nine estrogen-dependent non-endometrial cancers in postmenopausal women. Those with high and/or increasing ET on transvaginal ultrasound were found to be at increased risk of breast, ovarian and lung cancer.
ISUOG Practice Guidelines: diagnosis and management of small-for-gestational-age fetus and fetal growth restriction
The evaluation of fetal growth is one of the key objectives of prenatal care. New ISUOG Practice Guidelines provide definitions of fetal growth restriction (FGR) and small-for-gestational age, and describe the best possible management options based on current data and knowledge. Areas covered include tools for diagnosis, surveillance and management of FGR, including Doppler velocimetry, biophysical profile scoring, cardiotocography and short-term variation, definitions of early- and late-onset FGR, and monitoring and delivery strategies.
Coming up next month…
- Updated ISUOG Practice Guidelines on sonographic examination of the fetal central nervous system.
- A series of papers on the fetal brain, including a study on the role of prenatal magnetic resonance imaging in fetuses with isolated mild or moderate ventriculomegaly in the era of neurosonography (preview the Accepted Article).
- A study on treatment and outcome in 370 cases with spontaneous or postlaser twin anemia–polycythemia sequence managed in 17 different fetal therapy centers. Preview the Accepted Article.