Review
Medicine, General & Internal
Malak Abedalthagafi, Shahad Bawazeer, Romy I. Fawaz, A. Merrihew Heritage, Nouf M. Alajaji, Eissa Faqeih
Summary: Non-invasive prenatal testing (NIPT) is a pioneering technique that detects genetic abnormalities and diseases, aiming to decrease the incidence of inherited conditions. However, the impact of expanding the range of conditions should be carefully considered, and the predictive values of different tests need to be validated. Genetic counseling is important before and after testing.
FRONTIERS IN MEDICINE
(2023)
Review
Medicine, General & Internal
Siva Shantini Jayashankar, Muhammad Luqman Nasaruddin, Muhammad Faiz Hassan, Rima Anggrena Dasrilsyah, Mohamad Nasir Shafiee, Noor Akmal Shareela Ismail, Ekram Alias
Summary: Non-invasive prenatal testing (NIPT) was discovered in 1988 as a method to detect common aneuploidies, and it uses next-generation sequencing to analyze cell-free foetal DNA obtained from maternal serum. NIPT has shown promise as a simple and low-risk screening test, leading to efforts worldwide to integrate it into national healthcare initiatives and establish standards through consortia and research studies. This article aims to assess the reliability of NIPT and discuss the current challenges in different communities.
Article
Genetics & Heredity
Jialing Yu, Na Chen, Min Chen, Min Shen, Yeqing Qian, Minyue Dong
Summary: In this study, we report a fetus with tetrasomy 9p, which was identified by non-invasive prenatal testing (NIPT) but without obvious phenotypic manifestations during the first trimester. Karyotyping of amniocytes and chromosome microarray are crucial prenatal diagnostic techniques.
FRONTIERS IN GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Hilary Bowman-Smart, Claudia Wiesemann, Ruth Horn
Summary: Non-invasive prenatal testing (NIPT) has been commercially available in Europe since 2012. Different countries are integrating NIPT into their healthcare systems with varying implementation models. Germany has a unique approach of offering NIPT on a case-by-case basis, while many other European countries offer it as a first-tier screening for all pregnancies or a contingent screen for those with a higher probability of foetal aneuploidy. This unique model in Germany is influenced by its cultural, historical, and ethical context, as well as legal and regulatory considerations.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
Riccardo Giannico, Luca Forlani, Valentina Andrioletti, Ettore Cotroneo, Andrea Termine, Carlo Fabrizio, Raffaella Cascella, Luca Salvaderi, Pasquale Linarello, Debora Varrone, Laura Gigante, Emiliano Giardina
Summary: In 1997, Cell-Free Fetal DNA (cffDNA) was found in maternal plasma. cffDNA has been studied as a source of non-invasive prenatal testing for fetal pathologies and paternity testing. This study presents a non-invasive prenatal paternity test (NIPAT) using Next Generation Sequencing (NGS) to analyze 861 Single Nucleotide Variants (SNV) from cffDNA. The test has shown high accuracy in real cases according to the log(CPI) values generated.
Article
Obstetrics & Gynecology
Jing-wei Wang, Yong-nan Lyu, Bin Qiao, Yan Li, Yan Zhang, Pavan Kumar Dhanyamraju, Yevgeniya Bamme, Michael D. Yu, Dongqin Yang, Yong-qing Tong
Summary: The study evaluated the performance of NIPT in different clinical indications, demonstrating extremely high sensitivity and specificity for T21 and providing evidence for other abnormal chromosomal karyotypes.
BMC PREGNANCY AND CHILDBIRTH
(2021)
Article
Genetics & Heredity
Yusra Alyafee, Abeer Al Tuwaijri, Qamre Alam, Muhammad Umair, Shahad Haddad, Mashael Alharbi, Maryam Ballow, Mohammed Al Drees, Abdulkareem AlAbdulrahman, Aziza Al Khaldi, Majid Alfadhel
Summary: This study reported the successful implementation of an in-house NIPT screening service in Saudi Arabia, showing high accuracy and sensitivity to detect high-risk cases. This technique could potentially change the common screening practice for pregnant women in Saudi Arabia.
FRONTIERS IN GENETICS
(2021)
Article
Medicine, General & Internal
Michaela Hyblova, Andrej Gnip, Marcel Kucharik, Jaroslav Budis, Martina Sekelska, Gabriel Minarik
Summary: Non-invasive prenatal testing (NIPT) has become a routine practice worldwide for screening common aneuploidies in fetuses since 2015. The testing not only provides information about fetal conditions but also reveals maternal mosaicism, occult malignancies, and hidden health issues due to copy number variations. Analysis of NIPT patient samples with a focus on CNVs has identified multiple occurring variants (MOVs) and their potential associations with specific phenotypes.
Article
Genetics & Heredity
Agnese Feresin, Tamara Stampalija, Stefania Cappellani, Rossana Bussani, Flavio Faletra, Flora Murru, Sheila Ulivi, Sarah Suergiu, Pasquale Savarese, Antonio Pedicini, Margherita Policicchio, Raffaella Ruggiero, Barbara Bosio, Giovanni Savarese, Carmela Ardisia
Summary: Feto-placental mosaicism is a common cause of false positive and negative results in non-invasive prenatal testing (NIPT). Two cases highlight the limitations of NIPT and the importance of accurate counseling and identifying at-risk situations.
FRONTIERS IN GENETICS
(2022)
Article
Oncology
Xiying Yuan, Wenjing Yong, Lei Dai, Weinan Wang, Lingqian Wu
Summary: This study analyzes the complementary roles of non-invasive prenatal testing (NIPT) and ultrasound phenotypes in prenatal screening of fetal chromosome abnormalities. The results show that ultrasound phenotypes are helpful in identifying false positive results, especially for T18 and T13. NIPT-Plus has important clinical significance in reducing missed diagnosis of SCA, MMS, and RAT, but its screening performance needs further improvement.
ANNALS OF TRANSLATIONAL MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Songchang Chen, Lanlan Zhang, Jiong Gao, Shuyuan Li, Chunxin Chang, Yiyao Chen, Hongjun Fei, Junyu Zhang, Yanlin Wang, Hefeng Huang, Chenming Xu, Daru Lu
Summary: Non-invasive prenatal testing (NIPT) is effective for common fetal trisomies, but the usefulness of cell-free DNA testing for other chromosomal abnormalities is not well understood. Increasing the read depth in next-generation sequencing (NGS) improves positive CNV detection rates and reduces false positives, potentially making NIPT by NGS an accurate method for analyzing fetal chromosomes and reducing birth defects.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2021)
Article
Medicine, General & Internal
Kyung Min Kang, Soo Hyun Kim, Ji Eun Park, Hyunjin Kim, Hee Yeon Jang, Minyeon Go, So Hyun Yang, Sang Woo Ryu, Sung Mi Bae, Dong Hyun Cha, Sung Han Shim
Summary: This article aims to investigate the causes of inconsistent results between non-invasive prenatal testing (NIPT) and invasive testing methods in detecting trisomy 21. The study found that despite advances in fetal chromosome analysis using NIPT, invasive testing is still necessary to confirm the results.
FRONTIERS IN MEDICINE
(2022)
Article
Biology
Meiying Cai, Na Lin, Xuemei Chen, Ying Li, Min Lin, Xianguo Fu, Hailong Huang, Shuqiong He, Liangpu Xu
Summary: Although NIPT is widely used to detect fetal abnormalities, the results vary by population and data on the screening efficiency of NIPT PPV from different populations is limited. A large multicenter study involving 52,855 pregnant women retrospectively analyzed NIPT results, confirming a high PPV for T21 and low PPVs for T13 and T18. Screening for SCAs and CNVs showed clinical significance in southern China.
BRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH
(2023)
Review
Genetics & Heredity
Jacintha C. A. van Eekhout, Mireille N. Bekker, Caroline J. Bax, Robert-Jan H. Galjaard
Summary: This study conducted a systematic review to assess the screening performance of non-invasive prenatal testing (NIPT) in vanishing twin (VT) pregnancies. The results of seven included studies showed that NIPT can successfully detect common chromosomal abnormalities in pregnancies affected by a VT, but with a higher false positive rate.
PRENATAL DIAGNOSIS
(2023)
Review
Biochemistry & Molecular Biology
Vandana Kamath, Mary Purna Chacko, Mohan S. Kamath
Summary: This article mainly introduces the emerging role of non-invasive prenatal testing (NIPT) in pregnancies following assisted reproductive technology (ART), including challenges, shortcomings, and interpretational difficulties, with particular emphasis on twin and vanishing twin pregnancies. It also discusses future research directions to improve the performance and expand the scope of NIPT.
Letter
Infectious Diseases
Alanoud AlFehaidi, Syed Ali Ahmad, Ehab Hamed
JOURNAL OF INFECTION
(2021)
Letter
Infectious Diseases
Ehab Hamed, Ahmed Sameer Alnuaimi, Mohamed Ahmed Syed, Mohamed Abd Elhamid, Saad Thamer Sedeeq, Bayan Alemrayat, Amina Ali Mohamed Muktar, AlAnoud Saleh AlFehaidi, Hamda Abdulla A Qotba
JOURNAL OF INFECTION
(2021)
Letter
Infectious Diseases
Ehab Hamed, Saad Sedeeq, Ahmed Sameer Alnuaimi, Mohamed Syed, Mohamed Abd ElHamid, Bayan Alemrayat, Amina Mukhtar, AlAnoud AlFehaidi, Hamda A. Qotba
JOURNAL OF INFECTION
(2021)
Letter
Infectious Diseases
Hamda Abdulla A. Qotba, Ehab Hamed, Ahmed Sameer Alnuaimi, Azza Awad Saad, Gheyath K. Nasrallah, Abdulla Abdulrahman Alnaama, Mohamed Ahmed Syed
Article
Primary Health Care
Saad Thamer Sedeeq, Mohammad Jamil Mohammad AlTamimi, Ehab Hamed, Mohamed Ahmed Syed
Summary: This cross-sectional study aimed to determine the diagnostic accuracy of the Patient Health Questionnaire 2 in Qatar's primary care population. Data was anonymously collected from Qatar's primary care electronic medical record system, and the sensitivity, specificity, predictive values, negative values, and optimal cut-off points were calculated. The study findings identified a score of 2 as the optimal cut-off point, with a sensitivity of 88.73% and specificity of 69.31%. Further research should be conducted to validate these results using alternative study designs and to consider population characteristics in Qatar and internationally.
PRIMARY HEALTH CARE RESEARCH AND DEVELOPMENT
(2022)
Article
Environmental Sciences
Ehab Hamed, Bayan Alemrayat, Mohamed Ahmed Syed, Suhad Daher-Nashif, Hadi Mohamad Abu Rasheed, Tanya Kane
Summary: This study examines the knowledge, attitudes, and practices of breast cancer awareness and screening among women in Qatar. The results show that there is a gap between women's perceived awareness and their actual recognition of breast cancer signs and symptoms. The uptake of breast self-examination and breast cancer screening is low, and many women are unaware of the starting age for screening in Qatar. The study suggests expanding awareness campaigns and interventions to reach a broader audience in the Arab community.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2022)
Article
Medicine, General & Internal
Ehab Hamed, Ahmad Eid, Medhat Alberry
Summary: This study evaluated the efficacy of ChatGPT in adapting and synthesizing clinical guidelines for DKA by comparing different guideline sources. It found that ChatGPT was capable of generating a comprehensive guideline table but had multiple recurrent errors and inconsistencies, thus requiring human intervention and validation.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2023)
Article
Medicine, Research & Experimental
Ehab Hamed, Mohamed Ahmed Syed, Bayan Faleh Alemrayat, Syed Hammad Anwar Tirmizi, Ahmed Sameer Alnuaimi
Summary: This study examined Hgb cut-off levels for children at 1 and 4 years of age, finding that the cut-off levels for anaemia could be as low as 9.9 g/dL for one-year-olds and 10.6 g/dL for four-year-olds. Therefore, higher Hgb cut-off values should be set for different age groups and ethnicities to avoid overestimating the health issue.
AMERICAN JOURNAL OF BLOOD RESEARCH
(2021)
Article
Hematology
Ehab Hamed, Mohamed Ahmed Syed, Ahmed Sameer Alnuaimi, Mohammed Soliman, Bayan Alemrayat, Amina Ali Mohamed Muktar, AlAnoud Saleh AlFehaidi, Hamda Abdulla AlQotba
HEMATOLOGY REPORTS
(2020)
Article
Geriatrics & Gerontology
E. Hamed
HEALTHY AGING RESEARCH
(2018)
Article
Obstetrics & Gynecology
Tal Margaliot Kalifa, Hen Y. Sela, Jordanna Joseph, Sorina Grisaru-Granovsky, Fayez Khatib, Misgav Rottenstreich
Summary: Pregnancies following a second trimester uterine evacuation do not have an increased risk of preterm delivery or other adverse perinatal outcomes compared to pregnancies following a first trimester uterine evacuation.
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY
(2024)
Article
Obstetrics & Gynecology
Dominique A. Badr, Mieke M. Cannie, Caroline Kadji, Xin Kang, Andrew Carlin, Jacques C. Jani
Summary: The objective of this study was to assess the influence of the test-to-delivery interval on the performance of ultrasound and MRI in predicting birthweight. The results showed that MRI performed best in predicting birthweight greater than gestational age if delivery occurred within two weeks of the examination, with a slight decrease thereafter, while ultrasound performance decreased drastically over time.
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY
(2024)
Article
Obstetrics & Gynecology
Corina N. Schoen, Sami Backley, Lauren Orr, Amrita Roy, Tiffany Corlin, Alexander B. Knee
Summary: This retrospective cohort study aimed to evaluate whether induction of labor is associated with a lower risk of cesarean section in patients with isolated polyhydramnios. The study found that planned induction was associated with a lower rate of cesarean delivery compared to expectant management, but the difference was not statistically significant. Additionally, no differences were observed in maternal or fetal secondary outcomes.
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY
(2024)
Article
Obstetrics & Gynecology
Ohad Houri, Asaf Romano, Yossi Geron, Gil Zeevi, Eran Hadar, Shiri Barbash-Hazan, Shir Danieli-Gruber
Summary: Women with prior uterine rupture have good maternal and neonatal outcomes in subsequent pregnancies when managed at a tertiary medical center, with planned elective term cesarean delivery, or even earlier, at the onset of spontaneous preterm labor.
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY
(2024)
Correction
Obstetrics & Gynecology
Laura E. Janssen, Marjon A. de Boer, Eline C. E. von Konigslow, Elisa Dal, Martijn A. Oudijk, Danielle Robbers-Visser, Christianne J. M. de Groot
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY
(2024)
Review
Obstetrics & Gynecology
Natalia Rzewuska, Jacek Kunicki, Katarzyna Pieniak, Paulina Laskus, Bernadeta Zabielska, Roman Smolarczyk, Michal Kunicki
Summary: This systematic review examined the comorbidity of idiopathic intracranial hypertension (IIH) and polycystic ovarian syndrome (PCOS) and their impact on metabolism, hormone levels, and reproduction. The findings showed a high prevalence of comorbidity between the two conditions, which may have significant clinical implications for patient management.
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY
(2024)