He has an experience of 51 years in the field of genetics and added valuable contribution in the field of pediatric genetics and community health in India. He handled approximately 2000 cases with expertise in Fetal Medicine and Reproductive Genetics. Current areas of interest and/or active clinical practices: Management of fetal medicine and reproductive genetics; Dysmorphology; Genetic counseling and prenatal diagnosis using molecular, cytogenetic and biochemical techniques.
CONTEXT: First trimester scans have been performed for measurement of crown rump length and nuchal translucency, for combined screening. Now the scanning protocol is broadened to include a full anatomic screening of the fetus. The introduction of cell free DNA (cfDNA) to prenatal diagnosis for aneuploidy raises questions to the continued use of first trimester scanning as this test, has a higher sensitivity and specificity. AIMS: The aim of this study was to demonstrate the detection of fetal and maternal findings in first trimester ultrasound, which would influence outcome or alter management of the pregnancy. SETTINGS AND DESIGN: The study was a retrospective analysis of the first trimester scans performed in the Fetal Medicine Division of the Obstetrics and Gynecology department of a tertiary referral center for a one year period, from January 1, 2014, to December 31, 2014. MATERIALS AND METHODS: All first trimester scans performed in the unit were studied regardless of number of fetuses or maternal factors. A total of 14429 obstetric scans were performed, of which 4421 were between 11-14 weeks gestation. The details and outcome of cases were obtained from the institution database or from the patients telephonically if they delivered at another institution. 38 (0.8%) cases were abnormal. 11(29%) were asymptomatic embryonic demise and 4 were gynaecological problems. 22 cases (58%) were structural anomalies or increased nuchal translucency (>3.5mm). Of these 21 cases in whom follow up was obtained, 19 resulted in termination of pregnancy. In 4 of 6 cases of isolated increased nuchal translucency, karyotype was done and revealed 3 (75%) to be abnormal. In the other case, the karyotype is normal and the pregnancy is now ongoing. One patient who deferred direct testing delivered a neonate confirmed to be trisomy 21. CONCLUSION: Use of ultrasound in the first trimester has moved beyond aneuploidy screening with detailed guidelines available for anatomical screening. The first trimester ultrasound continues to be useful despite advances in aneuploidy detection strategies, as it offers an opportunity for the detection of major structural anomalies and enables early termination of pregnancy if required with less morbidity to the mother.
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.
This is a retrospective analysis of the patient demographics and cytogenetic results of patients who underwent prenatal invasive testing for genetic analysis at the Foetal Medicine Division of the Department of Obstetrics and Gynecology, Sri Ramachandra Medical College and Research Institute. The main objective of this study was to characterise the changing trends in indications of pregnant women for foetal karyotyping in a 7-year period. A total of 257 procedures were performed in this period, and there was a significant change in the trend of indications for invasive prenatal diagnosis from an advanced maternal age in 2009 to a positive screen test by 2014. Chromosome abnormalities were observed in 9.8% of the cases, with trisomy 21 being the most frequent finding. The findings demonstrate the changing trends in screening and diagnostic testing in the tertiary care centre, with an acceptance of the first and second trimester maternal serum screening tests as a determinant for high-risk pregnancies. Impact statement What is already known on this subject? Despite the fact that India has one of the world's highest birth rates, there is still no public health care policy for the application of cytogenetic prenatal diagnosis. Nevertheless, we have been offering this test in our university teaching hospital since 2008, allowing us to characterise the changing trends in indications of pregnant women who sought invasive diagnostic procedures for foetal genetic studies. What do the results of this study add? The results of our study show that there were major changes in the common indications for prenatal diagnosis during the study period. In 2009, the main indication was an advanced maternal age, referred to in 31% of the cases, which declined steadily to 5% by 2014. In 2014, 51% of cases opted for a prenatal diagnosis because of a first trimester screen positive result, increasing from 12% in 2009. What are the implications of these findings for clinical practice and/or further research? This data is relevant as it would encourage other tertiary hospitals in developing countries like India to consider extending first trimester screening for all women, regardless of age and educate them on the options of prenatal genetic diagnosis for reassurance.
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