Prenatal Diagnosis Of Congenital Anomalies

Eunice Kennedy Shriver National Institute Of Child Health & Human Development

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Abstract

Fetal Biometry as a Predictor of Adverse Perinatal Outcomes (3): A basic need in prenatal care is an evaluation of adequacy of fetal growth. Although many fetal growth standards have been proposed, there is no consensus on the best standard to use in practice. We, therefore, have compared the predictive ability of estimated fetal weight (EFW) percentiles, according to seven growth standards, to detect fetuses at risk for adverse perinatal outcomes in a retrospective cohort of 3,437 African-American women. The standards are as follows: the one-fits-all (Hadlock, INTERGROWTH-21st, WHO, FMF), ethnic specific (NICHD), fetal sex and maternal characteristics customized (GROW) and African American customized (PRB/NICHD) growth standards were applied to the last available scan prior to delivery. We have found, among others, that: We concluded that fetuses with an EFW<10th percentile as well as those with an EFW >90th percentile were at increased risk of adverse perinatal outcomes according to all, or some, of the seven standards, respectively. The relative risk carried by an EFW<10th percentile for the composite adverse perinatal outcome was higher for the most stringent standard (NICHD) compared to the least stringent standard (FMF) in small-for-gestational-age screening. The complementary analysis based on the ROC curve analysis suggests a slightly improved detection of adverse perinatal outcomes by more recent population-based (INTERGROWTH-21st) and customized (PRB/NICHD) standards compared to the Hadlock and FMF standards. Oxygenation and Perfusion to Evaluate Cerebral Hemodynamics in Growth-Restricted Fetuses (11): In this study we estimated venous blood oxygenation (SvO2) of the fetal brains superior sagittal sinus by susceptibility weighted imaging and measured the blood perfusion by power Doppler ultrasound and fractional moving blood volume from the frontal lobe in a mid-sagittal plane of the fetal brain. The experiments were performed on 33 healthy fetuses and 10 abnormal fetuses with fetal growth restriction. We found that SvO2 values and the trend across gestations were similar in fetal growth restricted fetuses and the healthy fetuses, while fractional moving blood volume values were higher and the trend across gestations was the opposite in healthy fetuses. We also found that in fetal growth restricted fetuses, SvO2 and fractional moving blood volume association was significantly positive. This dual-imaging modality approach could be beneficial for early detection of fetal brain sparing and brain oxygenation saturation changes in high-risk pregnancies. QUEST MRI to Detect Oxidative Stress in the Fetal Brain (1): Intra-amniotic inflammation has been implicated as a major risk for fetal brain injury, which is only diagnosable in post-mortem excised tissue. In vivo and ex vivo studies have shown that fetal brain injury can be induced by oxidative stress. Therefore, the early detection of fetal brain oxidative stress may be useful to diagnose fetal injury and provide personalized antioxidant treatment. In the above-mentioned study, we reengineered the QUEnch-assiSTed (QUEST) MRI method to measure excessive free radical production in the fetal brain. First, we created 3D printed clip to gently secure individual fetuses in situ to stabilize spontaneous breathing movements. Second, we determined the best MRI sequence (R1 data) to obtain signals without artifacts. Third, we used surface coil reception to maximize the filling factor, which resulted in improvement of the signal-to-noise ratio over a whole-body coil. Lastly, the MRI data (R1 data) was normalized to reduce coil in-homogeneities and slice bias for a more precise R1 estimate. This reengineered method was then tested in an animal model in which an ultrasound-guided intra-amniotic injection of endotoxin induced preterm birth, a pregnancy complication that is prevented by treatment with the antioxidant rosiglitazone. We report that the QUEST MRI method is capable of detecting oxidative stress in the fetal brain (green-yellow signal), which is reduced by treatment with the anti-oxidant rosiglitazone. This study represents the first time demonstration that oxidative stress can be determined in the fetal brain using QUEST MRI. Lingual Arteries of the Human Fetus (2): Novel ultrasound techniques, e.g., SlowflowHDTM, allow the visualization of small blood vessels within the fetal organs. This procedure is of great importance as it provides essential information in expanded detail on the developmental changes that occur during pregnancy. Our initial application of the SlowflowHDTM technique visualized the circulation of the fetal tongue: the main lingual and ranine arteries and veins and their branches were pictured in a fetus at 34 weeks of gestation. The diagnostic use of SlowflowHD will contribute to the close study of the fetal organs and placenta in normal and complicated pregnancies.