Prenatal Screening

BGI Genomics joins HGP2 rare disease alliance to close rare disease care gap in Asia-Pacific

Early intervention in severe fetal megacystis can increase survival rate and kidney function

Researchers found that treating severe fetal megacystis with a vesicoamniotic shunt in the first trimester can improve survival rates and kidney function. In the study, 75% of children were born alive and 68% survived their first year of life, with most showing normal or only slightly impaired kidney function.

Joint and independent associations of gestational diabetes and depression with childhood obesity

Cohort study finds prenatal depression and gestational diabetes independently increase childhood obesity risk, while children exposed to both face the greatest risk, highlighting need for universal screening and targeted interventions.

As nights warm, study flags possible prenatal link to autism risk

A new study found that warmer nighttime temperatures during pregnancy may be associated with a higher risk of autism diagnosis in children. Exposure to extreme heat during early and late pregnancy increased the risk by 15% and 13%, respectively.

Pediatric investigation review highlights the future of newborn screening with next-generation sequencing

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 marks 15 years with 2025 European Partnership Summit in Budapest

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.

Vitamin D deficiency increases the risk of complicated deliveries

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.

SMFM issues new guidance on diagnosing and managing heart failure during pregnancy and postpartum

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.

Country of birth, race, ethnicity, and prenatal depression

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.

Advances in ultrasound drive gains in prenatal heart defect detection, but regional gaps remain

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.

China's national-scale genomics study established new rare disease diagnosis framework

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.

Most women feel underinformed following prenatal screening for Down syndrome

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.

Amniotic stem cells can be collected from vaginal fluid rather than more invasive techniques

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.

BGI Genomics launch first localized NIPT project in Armenia with prom-test laboratories

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.

Study: NIPT identifies twice as many down syndrome cases as STSS

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' joint venture expanded research collaboration on prenatal genetic screening in Indonesia

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.

Low to moderate prenatal alcohol exposure and facial shape of children at ages 6 to 8

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.

Webinar highlight: High-throughput sequencing accelerates global thalassemia prevention

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.

Abnormal prenatal blood test results could indicate hidden maternal cancers

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.

ISB study highlights AI’s potential and pitfalls in scouring health data

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.

Large cohort study builds pregnancy health atlas for phenotype-omics research

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.

In utero exposure to maternal COVID-19 and offspring neurodevelopment through age 24 months

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.

Positive autism screening rates in toddlers born during the COVID-19 pandemic

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.

Genetic screening revolutionizes congenital heart disease detection

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.

Medicaid Accountable Care Organizations may increase care engagement and quality among pregnant and postpartum patients

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.

World first discoveries allow researchers to accurately diagnose prenatal exposure syndromes and birth disorders

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...

New NIPT-based method reveals 33 pathogenic CNVs in the DMD gene

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.

Prenatal testing offers a window for finding a mother’s cancer risk

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.

Personalized screening early in pregnancy may improve preeclampsia detection

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.

New research highlights strong demand for data on personalized risk of preeclampsia

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 blood test can identify genetic diseases in fetuses

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.

Maternal prenatal depressive symptoms and fetal growth during the critical rapid growth stage

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.

Depression, anxiety, and stress frequently co-occur in Black pregnant individuals

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.

Genomic insights for prenatal screening - The advantages of low-pass genome sequencing

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.

Uncovering thalassemia diversity in southern china through next-generation sequencing

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.

Trends in the prevalence of hepatitis C infection during pregnancy and maternal-infant outcomeTrends in the prevalence of hepatitis C infection during pregnancy and maternal-infant outcomes

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.

UMass Amherst epidemiologist updates and validates ‘gold standard’ of prenatal physical activity tools

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.

Early data from MedStar Health suggests addressing social risk factors through screening, support services, and digital tools can support improved maternal health

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.

Prenatal depression may be linked to cardiovascular disease after childbirth

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.

Study shows racial inequities in newborn drug testing

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...

Protein Biomarkers Identified in Women Who Developed Perinatal Depression and Anxiety

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.

Drop race adjustment for AFP prenatal testing, study urges

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.

Expert analysis refutes claims that humans are colonised by bacteria before birth

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.

ACMG publishes evidence-based clinical practice guideline recommending that noninvasive prenatal screening become the standard screening option for all pregnant individuals

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.

Pregnant women’s cannabis usage in legalized US states raises calls for screening

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.

Examining association of accessibility of retail cannabis, prenatal cannabis use during pandemic in California

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.

COVID-19 vaccine may be lifesaving for pregnant women and their unborn children

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.

Testing embryos for genetic conditions – Who is eligible and how are decisions made?

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.

Autism-associated brain differences can be observed in the womb

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.

Doctors diagnosing fetal heart disease benefit from explanatory AI

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.

New benchmark could improve detection of genetic variants linked to spinal muscular atrophy, other diseases

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.

Latest study finds BGI's NIFTY® test performs best in noninvasive prenatal screening

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.

ASHG and ESHG issue position statement on non-invasive prenatal screening

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.

ACMG releases statement on noninvasive prenatal screening

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.

Identification of differential proteins in maternal serum with Down syndrome

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.

Wrongful birth litigation and prenatal screening

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 ethics of selecting for existence

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.

Invisible disabilities

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.

Combined Use Of New, Non-Invasive Screening Techniques In First Trimester May Yield Earlier Evidence Of Fetal Birth Defects

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.