Articles tagged with Prenatal Screening
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The use of next-generation sequencing in newborn screening can detect a wide range of genetic disorders, some of which are not currently testable through traditional means. This approach enables earlier disease detection and long-term health planning.
BGI Genomics convened its 2025 European Partnership & Networking Summit in Budapest, fostering innovation, collaboration, and growth. The event introduced its comprehensive NGS solution, Gensiro, integrating AI and automation to streamline laboratory workflows.
A study published in the journal Bone found a clear link between osteomalacia and a fivefold increased risk of emergency caesarean sections or vacuum-assisted delivery. Vitamin D deficiency is a key underlying cause of osteomalacia, which may influence labor outcomes and increase the need for urgent obstetric interventions.
The Society for Maternal-Fetal Medicine (SMFM) has released new guidance on diagnosing and managing heart failure during pregnancy and postpartum. The guidance highlights the importance of preconception counseling, assembling multidisciplinary care teams, and referring patients to centers with expertise.
A cross-sectional study found that prenatal depression diagnosis and moderate to severe depression symptoms differ by maternal nativity and racial/ethnic background. Non-U.S.-born mothers tend to have better neonatal outcomes, but this association may not hold true for prenatal mental health conditions.
A landmark study in China has established a new diagnosis framework for rare diseases, improving the diagnostic rate from 29.58% to 39%. The study analyzed genetic data from 42,703 families and identified regional differences and genetic hotspots.
The study found that detection rates of congenital heart disease have improved due to advances in ultrasound screening practices, with added specific views helping detect more defects before birth. However, detection rates still vary by region and type of defect, highlighting the need for continued improvements in prenatal care.
A study found that expectant mothers are often left to navigate decisions on prenatal screening for Down syndrome without sufficient information or emotional support. The research highlights the need for a national pathway to support families and provide clear information about screenings.
Researchers at CU Anschutz Medical Campus have found a new source of patient-specific stem cells by collecting amniotic fluid from vaginal fluid after childbirth. This method allows for expanded and readily available access to these stem cells, which can be used to create functional heart tissue for treating congenital heart defects.
The first localized Non-Invasive Prenatal Testing (NIPT) project in Armenia has been launched by BGI Genomics with Prom-Test Laboratories. The NIFTY test offers screening for Down syndrome, Edwards syndrome, Patau syndrome, and sex chromosome anomalies with over 99% accuracy.
A novel study analyzing the cost-effectiveness of different Down syndrome screening strategies confirms that non-invasive prenatal testing (NIPT) significantly outperforms second-trimester serum screening (STSS). NIPT identifies twice as many DS cases as STSS, offering a more reliable option with lower incremental costs.
BGI Genomics' Indonesian joint venture signed a partnership agreement to advance prenatal genetic screening technology in Indonesia. The collaboration focuses on extended Non-Invasive Prenatal Test (NIPT-Pro) and Copy Number Variation Sequencing (CNVseq) for early detection of fetal genetic disorders.
Children exposed to low to moderate levels of prenatal alcohol showed characteristic facial changes that persisted until age 6 or 8. No linear association between alcohol exposure and facial shape was found, suggesting other factors at play.
Genetic testing using high-throughput sequencing (HTS) technology has significantly improved detection rates for thalassemia, offering a valuable model for high-prevalence regions. HTS-based genetic testing offers greater sensitivity and specificity without adding significant costs.
A NIH study found that 48.6% of pregnant people with abnormal cfDNA testing results had undetected cancers, including colorectal, breast, and lung cancer. Whole body MRI was the most effective method for detecting cancer in this population.
Large language models show promise in identifying housing instability from clinical notes, but AI interpretation can be incorrect and human review is still necessary. De-identification methods also require refinement to preserve privacy without losing important details.
The large cohort study identified common pregnancy complications, such as premature rupture of membranes and gestational diabetes mellitus, affecting 18.29% and 16.74% of participants, respectively. High-risk groups were also identified, including women with assisted reproductive technology and those aged 35 and older.
A cohort study found no association between maternal COVID-19 exposure and abnormal neurodevelopmental screening results in children aged 24 months. Continued research is needed due to the developing fetal brain's sensitivity to maternal immune activation.
A recent cohort study found that prenatal exposure to COVID-19 during pregnancy did not increase the risk of autism screening in toddlers. The research suggests that maternal SARS-CoV-2 infection and pandemic-related exposure had no significant impact on autism positivity rates.
A new study found that Medicaid Accountable Care Organizations (ACOs) in Massachusetts increased prenatal and postpartum office visits, postpartum depression screenings, and timely postpartum care. This value-based model of care addressed inequities in healthcare access for pregnant and postpartum people covered by Medicaid.
A recent study uses CNV-seq and WES to detect congenital heart disease, identifying genes contributing to CHD and increasing diagnostic yield. The combination of these technologies boosts detection rates for CHDs, improving prenatal management.
Researchers at Lawson Health Research Institute have made a world-first discovery using advanced technology and artificial intelligence (AI) to accurately diagnose rare diseases and prenatal exposure-related birth abnormalities. They used EpiSign technology, which measures a patient's epigenome, to identify patients affected by recurre...
Researchers developed a new NIPT-based method that reveals 33 pathogenic copy number variations (CNVs) in the Duchenne muscular dystrophy (DMD) gene. This study provides valuable insights into the frequency and spectrum of maternal CNV carriers in the Chinese population.
Researchers found that adding BRCA1 testing to prenatal carrier screening is cost-effective and can identify at-risk individuals before they develop cancer. The study simulated a cohort of pregnant patients and found that this approach could prevent 1,394 breast and ovarian cancer cases and 1,084 fewer deaths.
A new screening algorithm combining maternal history, ultrasound data and several tests for blood markers may predict most preeclampsia cases in the first trimester of pregnancy. The study found that personalized risk-based treatment decisions may improve adherence to preventative measures.
A new study finds that objective information about preeclampsia risk could drive patient behavior change and motivate pregnant women to follow prevention strategies. The research highlights the potential of personalized risk data to improve pregnancy outcomes and reduce complications.
A research team developed a novel blood test called desNIPT to screen pregnant women for genetic diseases in their unborn children. The test has demonstrated effectiveness in identifying alterations in fetal genes, similar to invasive procedures like chorionic villus sampling or amniocentesis.
Research highlights association between maternal depressive symptoms and reduced fetal growth during critical rapid growth stage before delivery. Early screening for depressive disorders in pregnant women may be crucial for promoting healthy fetal development.
A study of 452 Black pregnant patients found that 62% reported depression in combination with anxiety or stress. Prenatal screening for mental health concerns is necessary to address these co-occurring issues.
A new study validates Low-Pass Genome Sequencing (LP GS) as a robust and cost-effective alternative to Chromosomal Microarray Analysis (CMA) for prenatal diagnosis. LP GS detects six additional Copy Number Variations (CNVs) in cases with negative CMA results, highlighting the importance of sequencing depth in its detection sensitivity.
A large-scale thalassemia screening project involving 136,312 individuals revealed a high prevalence of thalassemia in Ganzhou, with 14.545% carriers identified. Next-generation sequencing techniques outperformed conventional methods in identifying novel and rare mutations.
The study found a significant increase in maternal HCV infection rates during pregnancy from 16-fold higher in 1998 compared to 2018. This is associated with adverse maternal-infant outcomes such as preterm labor, poor fetal growth, or fetal distress.
A University of Massachusetts Amherst researcher has updated the Pregnancy Physical Activity Questionnaire (PPAQ), a widely used tool for measuring prenatal physical activity. The new PPAQ is considered reliable and valid, providing estimates of physical activity and sedentary behavior in pregnant women.
Researchers found that 78% of patients reported at least one social risk factor impacting their health. A chatbot was developed to provide follow-up outreach and deliver educational content to recently discharged birthing individuals.
Individuals who experienced depression during pregnancy were more likely to be diagnosed with cardiovascular disease within two years after giving birth. The study found a significant higher risk of developing six major cardiovascular conditions, including heart failure and ischemic heart disease.
A recent study published in JAMA Network Open found that racial inequities in newborn drug testing rates remained similar after recreational cannabis legalization in Michigan. The study analyzed data from over 26,000 births between 2014-2020 and found that Black newborns were more likely to receive a drug test than white newborns. Impl...
Researchers found altered proteins in women's blood during the third trimester, correlating with brain signaling activity and pro-inflammatory pathways. The study aims to develop early diagnosis and treatment protocols for perinatal mood disorders.
A retrospective review of 27,710 medical records found no clinical measurable difference in AFP levels between non-Black and Black patients. The study urges an end to race-based adjustments for AFP prenatal testing, citing a lack of scientific basis for the practice.
A team of leading experts in reproductive biology, microbiome science, and immunology found that the concept of a foetal microbiome is inaccurate. The detection of microbiomes in foetal tissues was attributed to contamination during vaginal delivery, clinical procedures, or laboratory analysis.
The American College of Medical Genetics and Genomics recommends that noninvasive prenatal screening (NIPS) become the standard screening option for all pregnant individuals. NIPS has been shown to have a high accuracy rate, with detection rates of 98.8% for Trisomy 21 and 99.6% for sex chromosome abnormalities.
A California study of 99,000 pregnancies found that prenatal cannabis use was more common in areas with greater retail availability of cannabis. The study suggests a larger absolute increase in prenatal cannabis use among those living closer to storefront retailers during the pandemic.
A new national study found pregnant women in legalized US states are far more likely to use cannabis, with a 4.6 times higher rate compared to CBD-only states. The study emphasizes the need for prenatal and primary care providers to screen and counsel patients regarding cannabis use in pregnancy.
Researchers found that the COVID-19 vaccine can reduce the risk of SARS-CoV-2 placentitis, a condition that causes stillbirth and neonatal death. The vaccine not only protects pregnant women but may also be lifesaving for their unborn children.
Researchers investigate regulatory frameworks governing preimplantation genetic testing in Japan, the UK, and Western Australia. The study highlights the need for a multidisciplinary approach to evaluate disease severity and make informed decisions about treatment.
Researchers analyzed prenatal MRI scans of children later diagnosed with autism and found significant differences in brain structures at 25 weeks' gestation. These differences may be a strong biomarker for predicting ASD emergence, with the insular lobe showing increased volume.
Researchers found that AI-enhanced diagnosis helps doctors accurately detect fetal congenital heart disease, with fellows making the most accurate diagnoses. The new system uses graphical charts to represent the AI's analysis of ultrasound videos, improving accuracy and trust among medical professionals.
A new DNA benchmark, developed by NIST and collaborators, enables more accurate detection of genetic variants linked to diseases such as spinal muscular atrophy. The benchmark, based on HiFi sequencing technology, helps labs and clinics sequence genes with high accuracy, critical for disease diagnosis and treatment.
A recent study published in the New England Journal of Medicine found that BGI's NIFTY test outperformed other noninvasive prenatal screening tests. The test correctly detected 81% of cases with nonmosaic karyotypes, while incorrectly identifying 17% of trisomy 21 and XXX/XXY abnormalities as positive.
The American Society of Human Genetics and the European Society of Human Genetics issued a joint position statement on non-invasive prenatal testing (NIPT), exploring its promise and drawbacks. NIPT has improved accuracy and safety in prenatal screening, but raises concerns about over-expansion and loss of ultrasound data.
The American College of Medical Genetics and Genomics has released a policy statement on noninvasive prenatal screening for fetal aneuploidy, highlighting its advantages and limitations. The statement recommends following up positive results with invasive diagnostic tests to avoid patient harm.
Researchers have identified 29 differentially expressed proteins in maternal serum from pregnancies carrying Down syndrome fetuses. These proteins show promise as potential biomarkers for improving the performance of Down syndrome screening, but further clinical verification is needed.
New practice guidelines in Canada recommend prenatal screening for chromosomal abnormalities be offered to all pregnant women. The guidelines aim to balance reproductive autonomy with the potential legal liability of failing to screen, which could harm disabled children.
The article discusses invisible disabilities such as chronic pain, depression, and posttraumatic stress disorder. These conditions often go unrecognized or underdiagnosed due to the stigma associated with disability, leading to a lack of support and acceptance for individuals who may be struggling.
This article discusses the ethics of selecting for existence, a controversial practice where parents choose not to bring into existence a person with certain characteristics. The discussion highlights concerns over the moral obligations towards individuals with disabilities and implications on social contract theory.
Researchers are evaluating a combined-risk assessment method that combines blood protein markers and ultrasonography measurements to predict fetal abnormalities. The test has an estimated detection rate of up to 90% and could lead to earlier diagnosis and reduced invasive procedures.