Objectives: Accurate nuchal translucency (NT) measurement for assessing the risk of fetal genetic abnormalities requires precise acquisition of the mid‐sagittal plane (MSP). However, achieving an appropriate MSP is technically challenging due to anatomical variability and operator dependence inherent in conventional 2‐dimensional (2D) ultrasound. This study aimed to develop and validate a novel deep learning algorithm for automated fetal MSP extraction from 3‐dimensional (3D) ultrasound volumes utilizing intracranial structure segmentation to overcome the limitations of conventional methods reliant on facial landmarks. Methods: In this prospective study, we developed and evaluated “3D MSP‐net,” a convolutional neural network (CNN)–based model for automated MSP extraction, involving singleton pregnant women undergoing first‐trimester NT screening. Using achieved 3D volume data, 3D MSP‐net was validated against the conventional 2D manual method and a commercially available rule‐based automated system (5D NT™). Two maternal‐fetal medicine (MFM) specialists independently assessed the resulting MPSs to determine the performance for demonstrating the feasibility and high reproducibility of the 3D MSP‐net. Results: 3D MSP‐net achieved an MSP extraction success rate of 91.6%, comparable to that of the conventional 2D manual method and significantly superior to the rule‐based 3D algorithm. NT measurements were comparable between the conventional 2D manual approach and MSPs derived from 3D MSP‐net (1.4 ± 0.5 mm versus 1.4 ± 0.4 mm; p = .444). These results were reproducible on external validation. Moreover, the 3D MSP‐net maintained robust performance even under challenging conditions, such as increased maternal body mass index and different scan deviation angles. Conclusion: The 3D MSP‐net, our artificial intelligence (AI) model that utilizes intracranial landmarks for MSP reconstruction, enables improved efficiency, standardization, and reliability for first‐trimester fetal screening addressing a key challenge in prenatal diagnostics.
Objectives: Prenatal diagnosis of horseshoe kidney (HSK), a common congenital renal fusion anomaly of the upper urinary tract, remains challenging. Most cases are identified only after birth; however, the clinical significance of prenatal detection and its impact on postnatal outcomes remains unknown. Methods: We investigated infants with postnatally confirmed HSK born at a tertiary referral center between January 2009 and August 2025. Prenatal ultrasonographic findings and postnatal outcomes were reviewed. Patients were classified into three groups according to prenatal detection status: missed HSK (group 1), prenatally detected renal abnormalities without recognition of HSK (group 2), and prenatally identified HSK (group 3). Perinatal outcomes, postnatal urological complications, renal function, and associated anomalies were compared. Results: Overall, 29 infants were included in this study. Perinatal outcomes, including gestational age at delivery, birth weight, preterm birth, Apgar scores, need for ventilatory support, and neonatal sex, did not differ significantly among the groups. Hydronephrosis and renal scarring were more frequently observed in group 2 than in the other groups. Other urological outcomes, renal function parameters, and mortality rates were comparable between the groups. Conclusions: This adds to the limited longitudinal evidence linking the prenatal to postnatal period and evaluating the full spectrum of prenatal detection in HSK, as well as its association with postnatal outcomes. Postnatal outcomes are closely associated with the presence of renal abnormalities. Therefore, prenatal imaging is more appropriate for identifying associated renal abnormalities than for establishing a definitive diagnosis of HSK.
Background: Endocrine-disrupting chemicals (EDCs) are environmental pollutants that may impair maternal and fetal health by disrupting hormonal systems, including the thyroid. Both iodine deficiency and excess are associated with thyroid dysfunction and adverse obstetrical outcomes. However, the combined impacts of EDCs and iodine exposure on maternal-fetal thyroid homeostasis remain undetermined. We established the Investigating Birth and Thyroid Outcomes of Maternal-Fetal Environmental Exposures (IBM-E) cohort to prospectively assess the effects of maternal exposures to dietary iodine and EDCs on thyroid function, pregnancy complications, and offspring growth and development.Methods: In this prospective observational study, we aim to enroll 556 pregnant women between 2024 and 2027 at a tertiary hospital in Korea. Maternal blood and urine samples will be collected at six time points, spanning from early pregnancy through 15 months postpartum, with infant samples collected at three time points. EDCs will be quantified using ultra-high performance liquid chromatography-tandem mass spectrometry. Thyroid function and urinary iodine concentration will be measured in both mothers and infants.Results: As of the current interim analyses of 193 mothers and 229 neonates, 15.0% of mothers had thyroid dysfunction and 11.4% developed preeclampsia. Preterm birth occurred in 23.8% of cases, and 16.6% of neonates were small for gestational age.Conclusion: The IBM-E cohort is designed to enable the longitudinal assessment of gestational environmental exposures and their potential impacts on maternal and fetal thyroid function, as well as pregnancy and neonatal outcomes. The findings of this study may inform preventive strategies and guide policy development in perinatal environmental health.
Background/Objectives: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder; it is typically diagnosed in adulthood, but occasionally presents antenatally as very-early onset ADPKD. Despite advances in prenatal ultrasonography, knowledge regarding the postnatal course of fetal ADPKD remains limited, restricting reliable prognostic assessment and prenatal counselling. This study aimed to evaluate the prenatal sonographic features of fetal ADPKD and their correlation with postnatal outcomes. Materials and Methods: We retrospectively reviewed 20 cases of prenatally suspected ADPKD diagnosed at a single tertiary referral center between 2006 and 2024. Prenatal ultrasonographic findings including renal size, cortical echogenicity, corticomedullary differentiation (CMD), and cortical cysts were analyzed and correlated with postnatal clinical and genetic outcomes. Postnatal follow-up data, including renal function and progression to chronic kidney disease (CKD), were collected with a median follow-up of 93.6 months. Results: The most consistent prenatal ultrasonographic findings were increased cortical echogenicity (85%), increased CMD (75%), and renal enlargement (35%), with cortical cysts detected in 45% of cases. Amniotic fluid volume was preserved in most cases (80%). Postnatally, most infants maintained normal or near-normal renal function, although two progressed to CKD. Both CKD cases demonstrated absent CMD on prenatal imaging. Sonographic features resembling autosomal recessive polycystic kidney disease (ARPKD) were associated with adverse outcomes. Although CMD severity showed no correlation with short-term neonatal outcomes, loss of CMD may still serve as a potential early indicator of long-term renal dysfunction. Conclusions: Fetal ADPKD was associated with heterogeneous postnatal outcomes. Loss of CMD and ARPKD-like sonographic appearances may be associated with adverse prognosis, whereas most infants maintained preserved renal function. Early recognition of ADPKD is crucial for accurate counselling, appropriate perinatal management, and long-term surveillance.