keyword
https://read.qxmd.com/read/38684309/-prenatal-phenotype-and-genetic-analysis-of-a-fetus-with-fibrochondrogenesis-1-due-to-compound-heterozygous-variants-of-col11a1-gene
#21
JOURNAL ARTICLE
Jingwen Wu, Yuan Lyu, Shu Xyu, Xianzhen Wang
OBJECTIVE: To explore the genetic etiology of a fetus with short limbs identified by prenatal ultrasonography. METHODS: A fetus detected with short limb malformations at Shengjing Hospital Affiliated to China Medical University on October 25, 2021 was selected as the study subject. Prenatal ultrasound and post-abortion imaging were carried out to determine the phenotypic characteristics of the fetus. Amniotic fluid sample of the fetus and peripheral blood samples of its parents were collected...
May 10, 2024: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://read.qxmd.com/read/38681969/routine-antenatal-echocardiography-in-high-prevalence-areas-of-rheumatic-heart-disease-a-who-guideline-systematic-review
#22
REVIEW
Samuel Seitler, Mahmood Ahmad, Sanjali Anil Chu Ahuja, Malik Takreem Ahmed, Alexander Stevenson, Tamar Rachel Schreiber, Prem Singh Sodhi, Hiruna Kojitha Diyasena, Osarumwense Ogbeide, Sankavi Arularooran, Farhad Shokraneh, Miryan Cassandra, Eloi Marijon, David S Celermajer, Mohammed Y Khanji, Rui Providencia
BACKGROUND: Rheumatic Heart Disease (RHD) is the most common cause of valvular heart disease worldwide. Undiagnosed or untreated RHD can complicate pregnancy and lead to poor maternal and fetal outcomes and is a significant factor in non-obstetric morbidity. Echocardiography has an emerging role in screening for RHD. We aimed to critically analyse the evidence on the use of echocardiography for screening pregnant women for RHD in high-prevalence areas. METHODS: We searched MEDLINE and Embase to identify the relevant reports...
2024: Global Heart
https://read.qxmd.com/read/38679897/rare-presentation-of-rapidly-involuting-congenital-hemangioma-of-the-skull-a-case-report
#23
JOURNAL ARTICLE
Yanli Hu, Hongmei Dong
BACKGROUND Rapidly involuting congenital hemangioma (RICH) of the fetal skull is an extremely rare vascular disease which undergoes proliferation only in utero and progresses with maximal size at birth. RICH can be detected by prenatal imaging but is easily misdiagnosed. CASE REPORT A 28-year-old nulliparous woman was referred at 38 weeks of gestation for routine screening with obstetric ultrasonography. The ultrasonography revealed a female fetus with a previously undetected head tumor (32×22 mm). Certain unusual sonographic features were observed: the lesion was fusiform, with a wide base adjacent to the frontal bone...
April 29, 2024: American Journal of Case Reports
https://read.qxmd.com/read/38679768/preference-and-disclosure-of-fetal-gender-to-pregnant-women-during-prenatal-ultrasonography-in-south-south-nigeria
#24
JOURNAL ARTICLE
N R Maduka, U S Nnoli
BACKGROUND: Ultrasound scan (USS) in pregnancy has become a common diagnostic tool used in the assessment of pregnancy in recent time. In the course of routine pregnancy assessment using USS, some pregnant women will request to know the sex of their unborn babies. Their reasons for wanting to know the gender of their baby could be either for social reason like planning for an unborn child or their desire for a preferred gender. AIM: The aim of the study was to evaluate gender preferences and disclosure of foetal sex at prenatal USS...
April 1, 2024: Nigerian Journal of Clinical Practice
https://read.qxmd.com/read/38677956/congenital-infectious-encephalopathies-from-the-intrapartum-period-to-postnatal-life
#25
REVIEW
Olivier Fortin, Roberta L DeBiasi, Sarah B Mulkey
Congenital infections are a common but often underrecognized cause of fetal brain abnormalities, as well as fetal-neonatal morbidity and mortality, that should be considered by all healthcare professionals providing neurological care to fetuses and newborns. Maternal infection with various pathogens (cytomegalovirus, Toxoplasmosis, Rubella virus, Parvovirus B19, lymphocytic choriomeningitis virus, syphilis, Zika virus, varicella zoster virus) during pregnancy can be transmitted to the developing fetus, which can cause multisystem dysfunction and destructive or malformative central nervous system lesions...
April 10, 2024: Seminars in Fetal & Neonatal Medicine
https://read.qxmd.com/read/38676547/prenatal-tomography-ultrasound-imaging-diagnosis-of-fetal-pyriform-sinus-cysts-third-or-fourth-branchial-cleft-cyst-a-case-report
#26
Yujie Zhang, Qiuyan Pei
This case report describes a fetal piriform sinus cyst identified via tomographic ultrasound imaging and discusses its prenatal sonographic characteristics. We employed the tomographic ultrasound imaging function of the GE Voluson Ultrasound E10 to visualize multilevel transverse sections of the cyst. Specifically, we propose for the first time that the cross-sectional shape of a piriform sinus cyst composed of aryepiglottic folds approximates a triangle. This special shape facilitates the precise localization of the piriform sinus, providing valuable insights for timely diagnosis and appropriate postnatal management...
April 27, 2024: Journal of Clinical Ultrasound: JCU
https://read.qxmd.com/read/38674323/association-between-antenatal-vaginal-bleeding-and-adverse-perinatal-outcomes-in-placenta-accreta-spectrum
#27
JOURNAL ARTICLE
J Connor Mulhall, Kayla E Ireland, John J Byrne, Patrick S Ramsey, Georgia A McCann, Jessian L Munoz
Background and Objectives : Placenta accreta spectrum (PAS) disorders are placental conditions associated with significant maternal morbidity and mortality. While antenatal vaginal bleeding in the setting of PAS is common, the implications of this on overall outcomes remain unknown. Our primary objective was to identify the implications of antenatal vaginal bleeding in the setting of suspected PAS on both maternal and fetal outcomes. Materials and Methods : We performed a case-control study of patients referred to our PAS center of excellence delivered by cesarean hysterectomy from 2012 to 2022...
April 22, 2024: Medicina
https://read.qxmd.com/read/38671799/fetal-aortic-blood-flow-velocity-and-power-doppler-profiles-in-the-first-trimester-a-comprehensive-study-using-high-definition-flow-imaging
#28
JOURNAL ARTICLE
Yi-Cheng Wu, Ching-Hsuan Chen, Hsin-Tzu Lu, Yu-Li Lee, Pi-Yu Chen, Ting-Yu Wu, Ming-Hsun Tien, Chiung-Hui Wu, Jack Yu-Jen Huang, Ching-Hua Hsiao, Woei-Chyn Chu
OBJECTIVES: This study aimed to establish reference values for fetal aortic isthmus blood flow velocity and associated indices during the first trimester, utilizing a novel ultrasonographic technique known as high-definition flow imaging (HDFI). Additionally, the correlation between Doppler profiles of aortic blood flow and key fetal parameters, including nuchal thickness (NT), crown-rump length (CRL), and fetal heartbeat (FHB), was investigated. METHODS: A total of 262 fetuses were included in the analysis between December 2022 and December 2023...
April 15, 2024: Bioengineering
https://read.qxmd.com/read/38671685/a-second-trimester-prediction-algorithm-for-early-onset-hypertensive-disorders-of-pregnancy-occurrence-and-severity-based-on-soluble-fms-like-tyrosine-kinase-1-sflt-1-placental-growth-factor-plgf-ratio-and-uterine-doppler-ultrasound-in-women-at-risk
#29
JOURNAL ARTICLE
Cristian Nicolae Chirilă, Claudiu Mărginean, Dana Valentina Ghiga, Septimiu Voidăzan, Paula Maria Chirilă, Mirela Liana Gliga
Hypertensive disorders of pregnancy (HDPs) represent a significant source of severe maternal and fetal morbidity. Screening strategies relying on traditional medical history and clinical risk factors have traditionally shown relatively modest performance, mainly in the prediction of preeclampsia, displaying a sensitivity of 37% for the early-onset form and 29% for the late-onset form. The development of more accurate predictive and diagnostic models of preeclampsia in the early stages of pregnancy represents a matter of high priority...
April 14, 2024: Children
https://read.qxmd.com/read/38670328/combined-hysteroscopic-bigatti-shaver-ibs%C3%A2-and-resectoscope-removal-of-a-heterotopic-cesarean-scar-pregnancy-in-the-first-trimester
#30
JOURNAL ARTICLE
Wei Liu, Yang Yue, Xiaoman Hou, Huayu Han, Wei Wang, Xiaoyan Lin
OBJECTIVE: To report a case of heterotopic cesarean scar pregnancy reduction by combined hysteroscopic Bigatti shaver (IBS®) and resectoscope with the preservation of a normal gestational sac in the uterine cavity under simultaneous transabdominal ultrasound guidance. DESIGN: Video article STATEMENT OF CONSENT: The patient included in this video gave consent for publication of the video and posting of the video online including social media, the journal website, scientific literature websites (such as PubMed, ScienceDirect, Scopus, etc...
April 24, 2024: Fertility and Sterility
https://read.qxmd.com/read/38669810/spontaneous-rectus-sheath-hematoma-revealed-by-abdominal-pain-during-pregnancy-a-case-report
#31
Bacem Zaidi, Wael Gazzah, Mehdi Ben Saad, Sihem Sindi, Walid Maraach, Zied Mensi
INTRODUCTION AND IMPORTANCE: Rectus sheath hematoma (RSH) is an uncommon but significant cause of acute abdominal pain in pregnancy, challenging in both diagnosis and treatment. It often arises from ruptured epigastric vessels and is associated with factors like anticoagulation therapy and previous abdominal surgery. Misdiagnosis, due to nonspecific symptoms, frequently leads to unnecessary surgeries, posing substantial risks to maternal and fetal health. CASE PRESENTATION: We present a case of a 32-year-old multiparous woman at 31 weeks of gestation, experiencing right-sided abdominal pain and irregular contractions...
April 24, 2024: International Journal of Surgery Case Reports
https://read.qxmd.com/read/38669595/adverse-perinatal-outcomes-are-strongly-associated-with-degree-of-abnormality-in-uterine-artery-doppler-pulsatility-index
#32
JOURNAL ARTICLE
S Dockree, C Aye, C Ioannou, A Cavallaro, R Black, L Impey
OBJECTIVES: To investigate the association between varying degrees of abnormality in the uterine artery Doppler pulsatility index (UtA-PI) and adverse perinatal outcomes. METHODS: Prospective study of 33,364 women who gave birth to singleton, non-anomalous babies in Oxford, following universal measurement of UtA-PI in mid-pregnancy. Relative risk ratios for the primary outcomes of extended perinatal mortality and live birth with severe small-for-gestational-age (SGA) were calculated by multinomial logistic regression, for early preterm birth (<34+0 ) and late preterm/term birth (≥34+0 )...
April 26, 2024: Ultrasound in Obstetrics & Gynecology
https://read.qxmd.com/read/38668047/high-grade-serous-ovarian-cancer-during-pregnancy-from-diagnosis-to-treatment
#33
REVIEW
Gregor Vivod, Sebastjan Merlo, Nina Kovacevic
BACKGROUND: Due to the rarity of ovarian cancer diagnosed during pregnancy, the literature on the treatment of subtypes of epithelial ovarian cancer in pregnancy is sparse. The aim of our review was to analyze cases of high-grade serous ovarian cancer in pregnancy. METHODS: The PubMed and Scopus databases were searched for relevant articles published in English between January 2000 and December 2023. The references of all the relevant reviews found were also checked to avoid omitting eligible studies...
April 2, 2024: Current Oncology
https://read.qxmd.com/read/38667726/prenatal-diagnosis-of-congenital-heart-disease-the-crucial-role-of-perinatal-and-delivery-planning
#34
REVIEW
Sheetal R Patel, Erik Michelfelder
Although most congenital heart defects (CHDs) are asymptomatic at birth, certain CHD lesions are at significant risk of severe hemodynamic instability and death if emergent cardiac interventions are not performed in a timely fashion. Therefore, accurate identification of at-risk fetuses and appropriate delivery resource planning according to the degree of anticipated hemodynamic instability is crucial. Fetal echocardiography has increased prenatal CHD detection in recent years due to advancements in ultrasound techniques and improved obstetrical cardiac screening protocols, enabling the prediction of newborns' hemodynamic status...
March 31, 2024: Journal of Cardiovascular Development and Disease
https://read.qxmd.com/read/38667471/prenatal-diagnosis-and-prognosis-of-abdominal-arteriovenous-fistulae-a-comprehensive-case-series-and-systematic-review
#35
JOURNAL ARTICLE
Anda Ungureanu, Rodica Daniela Nagy, Cristian Constantin, Ioana Andreea Gheonea, Dominic Gabriel Iliescu
This study had two main objectives. Firstly, we conducted a thorough literature review on the prenatal diagnosis of abdominal congenital arteriovenous fistulas (CAVFs) involving the abdominal aorta and hepatic arteries. Secondly, we aimed to provide detailed descriptions of eight additional cases diagnosed at our medical center and assess the outcome of this anomaly for informed counseling. We conducted a systematic search of online databases using specific keywords like "outcome", "ultrasound", "intrahepatic fistulae", and "fetal venous anomalies", focusing on studies published between 1998 and 2023...
April 17, 2024: Diagnostics
https://read.qxmd.com/read/38666931/prenatal-diagnosis-by-trio-clinical-exome-sequencing-single-center-experience
#36
JOURNAL ARTICLE
Katia Margiotti, Marco Fabiani, Antonella Cima, Francesco Libotte, Alvaro Mesoraca, Claudio Giorlandino
Fetal anomalies, characterized by structural or functional abnormalities occurring during intrauterine life, pose a significant medical challenge, with a notable prevalence, affecting approximately 2-3% of live births and 20% of spontaneous miscarriages. This study aims to identify the genetic cause of ultrasound anomalies through clinical exome sequencing (CES) analysis. The focus is on utilizing CES analysis in a trio setting, involving the fetuses and both parents. To achieve this objective, prenatal trio clinical exome sequencing was conducted in 51 fetuseses exhibiting ultrasound anomalies with previously negative results from chromosomal microarray (CMA) analysis...
April 6, 2024: Current Issues in Molecular Biology
https://read.qxmd.com/read/38665355/genetic-counseling-of-fetal-microcephaly
#37
REVIEW
Shu-Chin Chien, Chih-Ping Chen
Fetal microcephaly is a small head with various losses of cerebral cortical volume. The affected cases may suffer from a wide range in severity of impaired cerebral development from slight to severe mental retardation. It can be an isolated finding or with other anomalies depending on the heterogeneous causes including genetic mutations, chromosomal abnormalities, congenital infectious diseases, maternal alcohol consumption, and metabolic disorders during pregnancy. It is often a lifelong and incurable condition...
2024: Journal of Medical Ultrasound
https://read.qxmd.com/read/38665348/prenatal-diagnosis-of-oral-teratoma-by-ultrasound
#38
Yan-Lin Li, Li Zhen, Dong-Zhi Li
A pregnant woman had a normal second-trimester anatomic survey at 22 weeks gestation. She was revealed to have a fetal oral mass with polyhydramnios and invisible stomach bubble by ultrasound at 28 weeks. A 50 mm × 36 mm × 42 mm, solid mass was found in the fetal mouth, filling the entire oral cavity. Fetal magnetic resonance imaging showed a homogeneous solid mass in the oral cavity compressing the hypopharynx. At 33 weeks, preterm labor occurred because of the continuation of increased amniotic fluid volume, and a female infant was vaginally delivered...
2024: Journal of Medical Ultrasound
https://read.qxmd.com/read/38665343/fetal-gestational-age-estimation-using-ultrasonic-transverse-cerebellar-diameter-in-a-sub-saharan-african-population
#39
JOURNAL ARTICLE
Akeem Olajide Adelabu, Temitope Olugbenga Bello, Bukunmi Michael Idowu, Victor Olufemi Oyedepo
BACKGROUND: To explore the relationship between fetal Transverse Cerebellar Diameter (TCD) and menstrual gestational age (GA) and to generate normative references (nomogram) of the fetal TCD in some pregnant women in Southwest Nigeria. METHODS: Four hundred pregnant women with a singleton fetus between 14 and 38 weeks GA were enrolled. The TCD and other biometric parameters (biparietal diameter, head circumference, abdominal circumference, and femur length) as well as the cerebellar appearance were analyzed and correlated with the GA...
2024: Journal of Medical Ultrasound
https://read.qxmd.com/read/38665341/prenatal-diagnosis-and-outcomes-of-cervical-meningocele-and-myelomeningocele
#40
REVIEW
An-Shine Chao, Lan-Sin Jhang, Peter Ching-Chang Hsieh
Prenatal diagnosis of myelomeningocele remains challenging for obstetricians, ultrasonographers, and radiologists, although the increased maternal serum alpha-fetoprotein level aids in the confirmative diagnosis. Fetal cervical myelomeningocele and meningocele are very rare and unique types of myelomeningocele. Prenatal diagnosis of cervical myelomeningocele and meningocele should include the differential diagnosis and association of many intracranial and spino-skeletal pathogenetic variants and genetic diseases, including subependymal nodular heterotopia and Klippel-Feil syndrome...
2024: Journal of Medical Ultrasound
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