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Objective: To derive a risk calculation algorithm suitable for use in India when screening for Down's syndrome using four first-trimester maternal serum markers either alone or with ultrasound nuchal translucency (NT). Methods: Stored maternal serum samples (− 20 °C) from 411 singleton unaffected pregnancies were retrieved and measured for pregnancy-associated plasma protein (PAPP-A), free β-human chorionic gonadotropin (hCG), placental growth factor and α-fetoprotein. Samples were taken at 10–13 weeks' gestation. Equations were derived to express marker levels in multiples of the gestation-specific normal median, adjusted for maternal weight. Gaussian model parameters were derived and compared with six published non-Indian studies; NT parameters were derived from 27,647 women screened in India. On the basis of the maternal age distribution in 64,473 Indian women screened in 2016–2017, the model was used to predict test performance. Results: The model predicted a detection rate for a serum-only protocol of 80% for a 5% false-positive rate. Using a 1 in 250 at term Down's syndrome risk cut-off, the predicted detection rate was 78% and the false-positive rate was 4.1%. When NT was also included, the rates were 95% for 5% and 90% for 1.4%, respectively. Conclusion: First-trimester screening using four serum markers only can be carried out in India. Performance is expected to be similar to the second-trimester Quad test and will also facilitate early screening for preeclampsia and open spina bifida. A protocol of NT plus the four serum markers enhances the performance compared with NT, PAPP-A and free β-hCG. [ABSTRACT FROM AUTHOR]

Background: Congenital abnormalities of the diaphragm cause impairment of lung development and are an important cause of post-natal morbidity and mortality. Congenital diaphragmatic eventration (CDE), a less sinister diaphragmatic anomaly compared to the more common congenital diaphragmatic hernia (CDH), often tends to mimic CDH on prenatal imaging. This study evaluates the role of fetal magnetic resonance imaging (MRI) in differentiating these two entities. Results: This was a retrospective study which included fetal MRI studies done in patients with ultrasound diagnosis of fetal diaphragmatic anomaly. MRI exam was performed with a 1.5 T superconducting system with eight-element torso array coil. The images were studied by two radiologists experienced in fetal imaging in consensus. Diagnosis of CDE was made if the dome of the diaphragm was visualized as a thin hypointense line separating the lung from abdominal structures on coronal and sagittal MRI sequences. If this thin hypointense line was not visualized, a diagnosis of CDH was made. The findings were then correlated with autopsy/intra-operative findings/post-natal imaging follow-up. A total of 12 patients were included in the study. In these 12 patients, 13 diaphragmatic abnormalities were diagnosed on MRI (1 fetus had bilateral diaphragmatic anomaly). Of the 13 diaphragmatic anomalies detected, 7 (54%) were CDH and 6 (46%) were CDE. The type of diaphragmatic anomaly was correctly identified on MRI in all except one fetus in which CDE was misdiagnosed as CDH. The Fisher exact test statistic value was 0.0047. The result was significant at p < 0.01. Conclusion: Fetal MRI is a useful tool for assessing congenital diaphragmatic anomalies. Visualization of the diaphragm on coronal and sagittal images helps in diagnosis of complete CDE and differentiating it from the more sinister CDH. [ABSTRACT FROM AUTHOR]