BillionToOne’s Post

A new #CaseStudy suggests that using methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) during gestation may be a useful technique to detect maternal uniparental disomy 15/trisomy 15 [UPD(15) mat/T15] mosaicism, which appears in approximately 30% of cases of Prader-Willi syndrome. The case report, published in the Taiwanese Journal of Obstetrics and Gynecology, highlights the use of MS-MLPA in conjunction with karyotype and copy number variation sequencing to prevent a missed diagnosis of mosaic UPD(15) mat/T15. Read more: https://brnw.ch/21wGwSy #MaternalFetalMedicine #Obstetrics

Publication Alert!🚨 Congratulations to Prof. VP Paily, Dr. Alisha Shajahan, and team at Dept. of Obstetrics and Gynecology, Rajagiri Hospital Kochi for publishing their landmark randomised controlled trial, comparing the safety and effectiveness of three devices to control post-partum hemorrhage in women undergoing vaginal births. Uncontrolled bleeding after vaginal birth continues to the leading cause of maternal deaths, particularly in low-and-middle income countries. This clinical trial finds that simple, novel devices such as the Suction Cannula and TransVaginal Uterine Artery Clamp (TVUAC) are faster and more effective than condom tamponade, currently being used in birth centres in LMICs. I am honoured to have played a small part in the conduct and analysis of this pivotal trial, along with Dr Suhail K Shefeek, that can potentially save the lives of millions of mothers at risk for death and complications of uncontrolled bleeding after birth. Read the article for free here! #maternalhealth #mortality #safebirth #bleeding

Interventional Radiology at its best

We are pleased to announce the launch of our Fetal RhD NIPT test – a major advancement in prenatal care. Natera’s test can be performed as early as nine weeks gestation and determines fetal RhD status from the blood of a pregnant patient, including complex pseudogene and RhD-CE-D hybrid variants. Our RhD test is backed by a large validation study that included fetal RhD status confirmed via newborn serology in more than 650 RhD-negative pregnancies. This new test comes at a critical time for the healthcare industry, where knowing fetal Rh status can help physicians navigate patient care given current nationwide shortages of Rho(D) immune globulin therapy (Rhlg). “Having an accurate, well-validated fetal RhD test is critical given the current shortage of RhIg and the tremendous complications alloimmunization can cause to a baby’s health in a subsequent pregnancy,” said Victor Klein, M.D., M.B.A., System Director of Quality & Patient Safety for Obstetrics & Gynecology at Northwell Health. “It is especially important that clinicians have access to these tools right now to help determine which patients are most in need of RhIg.” Read more about this exciting news in our press release. https://ow.ly/Y6Tk50RtrIq

"A combined OB-GYN practice skews care toward reproduction and neglects many crucial aspects of gynecology to the great detriment of women’s health." A wonderful piece from Elizabeth Poynor MD PhD of Atria Institute in Time Inc. about the perils of "bikini medicine" - or a focus on women's reproductive system in favor of vital organs like the heart, brain, and gut. Moving away from this type of medicine, Poynor says, may begin with splitting obstetrics (OB) from gynecology (GYN). To learn more, check out the full article below.  https://lnkd.in/e3hvCtPM

In a recent review of data published in the Journal of Obstetrics and Gynaecology Canada, researchers questioned the necessity of routinely performing group and screen (G&S) tests in healthy, low-risk pregnancies across Canada. The G&S test is performed during the first trimester, at the first prenatal visit, to detect clinically significant antibodies that may lead to hemolytic disease of the fetus and newborn (HDFN). It also aims to assess eligibility for anti-D immunoglobulin (RhIg) in RhD-negative individuals and ensure the availability of red blood cells for potential transfusion during delivery. Read more: https://brnw.ch/21wGsZw #MaternalFetalMedicine

Unraveling the Mysteries of Subchorionic Hematoma: A Fascinating Phenomenon in Pregnancy Subchorionic hematoma, a condition shrouded in intrigue within the realm of obstetrics, captivates the minds of science scholars worldwide. This enigmatic phenomenon, characterized by the accumulation of blood between the uterine wall and the chorionic membrane, presents a fascinating conundrum that beckons exploration and understanding. At the heart of subchorionic hematoma lies a delicate interplay of physiological and pathological processes. Occurring early in pregnancy, this condition often manifests as vaginal bleeding, prompting concern and vigilance among expectant mothers and healthcare providers alike. Yet, beneath the surface, a complex tapestry of factors shapes the evolution and clinical significance of this intriguing entity. Research into subchorionic hematoma delves into multifaceted domains, encompassing embryonic development, placental physiology, and vascular dynamics. Central to its pathogenesis is the disruption of vascular integrity within the uterine wall, leading to the formation of a hematoma adjacent to the developing gestational sac. The etiology of this vascular disturbance remains a subject of ongoing investigation, with factors such as trophoblastic invasion, decidualization, and hemodynamic changes under scrutiny. While subchorionic hematoma is often considered a benign finding in pregnancy, its implications extend beyond mere clinical observation. Studies have sought to elucidate its association with adverse pregnancy outcomes, including miscarriage, preterm birth, and fetal growth restriction. The prognostic significance of hematoma size, location, and persistence continues to be a topic of debate and exploration, underscoring the need for comprehensive risk stratification and individualized management strategies. In the quest to unravel the mysteries of subchorionic hematoma, interdisciplinary collaboration flourishes, uniting researchers, clinicians, and scholars in a shared pursuit of knowledge. Advances in imaging modalities, molecular biology, and clinical assessment offer unprecedented insights into its pathophysiology and clinical significance, paving the way for enhanced risk prediction and targeted interventions. we stand poised at the threshold of discovery, drawn to the intricacies of subchorionic hematoma and driven by the promise of improving maternal and fetal outcomes. Through our collective endeavors, we illuminate the path ahead, unraveling the mysteries of pregnancy-related disorders and forging new frontiers in obstetric research and care. #stem #academia #healthandscience

Screening for preeclampsia using a combination of maternal history, ultrasound screening, and a panel of blood biomarkers could help improve early detection rates of the condition, which could improve both maternal and infant health in those affected. Writing in the journal Hypertension, lead study author Emmanuel Bujold, MD, professor in the department of obstetrics and gynecology at the Université Laval in Canada, and colleagues report that their screening test was more accurate at detecting both preterm and early onset preeclampsia than currently recommended methods, which focus on maternal demographic or medical historical risk factors alone. Preeclampsia affects approximately 1 in 25 pregnancies in the United States. The main symptom of the condition is having an abnormally high blood pressure during pregnancy and can be life-threatening for both the mother and baby if left untreated. It impacts fetal growth and other developmental factors and can lead to long-term cardiovascular problems for women who are affected while pregnant. Although the changes in the mother’s body that lead to preeclampsia start in the very early stages of pregnancy (weeks 1–12), more obvious symptoms are not normally seen before 20 weeks of pregnancy meaning the condition it often diagnosed at a late stage. Late-stage diagnosis invariably leads to early delivery of the baby. Earlier diagnosis would beneficial as it means there is a possibility to ward off the condition through prophylactic treatments such as low dose aspirin, which was estimated in an earlier study to reduce preeclampsia risk by 53% if started early in pregnancy (pre 16 weeks). The current study assessed the accuracy of an algorithm developed by the Fetal Medicine Foundation in the U.K. at predicting preeclampsia. The algorithm combines maternal history, ultrasound results, body mass index, blood pressure, and measurement of biochemical blood biomarkers such as pregnancy-associated plasma protein A and placental growth factor to predict risk at an early stage of pregnancy. #preclampsia #earlydetection

Are we doing/ordering the right NIPT test for aneuploidy identification? Answer: Current test based on Z score can miss significant number of aneuploidy cases. One reason for this is the cut off value of Z score. It ‘s really difficult to set up a constant Z score value for the entire population. Several factors can change the value of Z score which results in false positive and negative cases. #nipt #pregnancy #ivf #fertility #diagnostics #genomics #nextgenerationsequencing Dr. Arvind Chaudhry 1.      Next generation library preparation method 2.      Sequencing data per sample 3.      Fetal fraction percentage in sample 4.      Exclusion of positive and negative control from running. To overcome above challenges, Cordon Genomics developed a NIPT pipeline which can be set up in every lab and reduces false positivity and negativity of the assay. Here are a few examples. False positive case One NIPT test came positive based on Z score analysis. As per our analysis test was negative. To confirm our finding, 2 times TIFFA scan and fetal echo test was performed by a clinician. Everything was negative.  False negative case Several cases came negative based on Z score analysis. As per our analysis test was positive. Then our next question was why several cases were negative by other labs. On further analysis, we found that Z score value was below the cutoff . To confirm our findings, we reviewed clinical details of patients. These cases were also positive by dual/quadruple marker. Our finding was in agreement with a recently published study from northern India (https://lnkd.in/gKJmW5VR). Our finding was also confirmed by amniocentesis. Choose your assay wisely. Cordon is providing complete solution to set up our reproductive genetics test in your lab. If you have any questions then please contact us. We are here to help you.  Cordongenomics@gmail.com