keyword
https://read.qxmd.com/read/38222129/review-of-teratogenic-effects-of-leflunomide-accutane-thalidomide-warfarin-tetracycline-and-angiotensin-converting-enzyme-inhibitors
#1
REVIEW
Raegan B Abadie, Camryn L Keller, Nicholas T Jones, Erin L Mayeux, Rachel J Klapper, Lillian Anderson, Adam M Kaye, Shahab Ahmadzadeh, Giustino Varrassi, Sahar Shekoohi, Alan D Kaye
Teratogenic agents have been shown to have drastic and detrimental effects on fetuses if exposed to the agent during uterine life. The most sensitive time for a developing fetus is during the first trimester, and teratogenic exposure during this time can lead to severe deformities in the fetus. The Food and Drug Administration has categorized teratogenic agents based on the severity of their effect on the fetus; these categories include A, B, C, D, and X. Category A is the safest, with the most dangerous, and highly contraindicated in pregnant patients being Category X...
December 2023: Curēus
https://read.qxmd.com/read/38125687/the-co-existence-of-patent-omphalomesenteric-duct-and-omphalocele-in-patau-s-syndrome-in-saudi-arabia-a-case-report
#2
Badr Beyari, Yaser Alhassan, Aisha Gabra, Mohammed Awad, Ameen Alsaggaf
The pathophysiology of Patau's syndrome involves the triplication of chromosomes, leading to multiple comorbidities. An omphalocele is characterized by a protrusion of abdominal contents from the base of the umbilical cord through the peritoneum. An omphalomesenteric duct remnant occurs when there is a failure of duct closure that results in a diverticulum extending from the fetal midgut to the yolk sac. While congenital defects rarely occur simultaneously in patients with Patau's syndrome, this case report describes a newborn with Patau syndrome who presented with both an omphalocele and an omphalomesenteric duct remnant...
December 2023: Curēus
https://read.qxmd.com/read/37526276/shortened-fetal-long-bones-a-notable-intrauterine-phenotypic-feature-in-shox-associated-skeletal-dysplasia
#3
JOURNAL ARTICLE
Rong Hu, Weiwei Huang, Congmian Ren, Ling Liu, Yaping Hou, Yunan Wang, Jian Lu
OBJECTIVE: To explore the intrauterine phenotypic spectrum of short stature homeobox-containing (SHOX) gene-associated skeletal dysplasia and provide genetic counseling at-risk pregnancies. METHOD: We analyzed the fetuses with SHOX-microdeletions identified by single nucleotide polymorphism (SNP)-array. The intrauterine phenotypes and outcomes were further elaborated. RESULTS: Nine fetuses carrying a single SHOX-microdeletion were reported, with deletion sizes ranging from 0...
August 1, 2023: Prenatal Diagnosis
https://read.qxmd.com/read/37231986/prenatal-diagnosis-of-treacher-collins-syndrome-a-case-report-and-literature-review
#4
REVIEW
Yin Wang, Yonghua Wang, Mengxia Yao, Le Chen, Suqing Wu, Yanying Liu
Treacher Collins syndrome (TCS) should be suspected if the triad of micrognathia, glossoptosis, and posterior cleft palate, and deformed external ears are observed during prenatal ultrasonography, excepting Pierre Robin sequence. Visualization of the fetal zygomatic bone and down-slanting palpebral fissures are conducive to differentiation. Molecular genetics testing can establish a definite diagnosis. A 28-year-old pregnant Chinese woman was referred for systematic ultrasound examination at 24 weeks...
May 25, 2023: International Journal of Gynaecology and Obstetrics
https://read.qxmd.com/read/36269386/assessing-the-value-of-second-trimester-nasal-bone-hypoplasia-in-predicting-chromosomal-abnormalities-a-retrospective-chromosomal-microarray-analysis-of-351-fetuses
#5
JOURNAL ARTICLE
Lei Pan, Hui Liang, Zhuo Meng, Jun Wang, Rui Zhang, Yong Wu
PURPOSE: To evaluate the value of fetal nasal bone hypoplasia and other prenatal risk factors in predicting chromosomal abnormalities. METHODS: In this retrospective cohort study, we collected data on singleton pregnancies diagnosed with fetal nasal bone hypoplasia during second-trimester ultrasound. Fetal karyotyping and chromosomal microarray analysis (CMA) were performed, and pregnancy outcomes were assessed. The association between fetal nasal bone hypoplasia and chromosomal abnormalities was evaluated according to whether other prenatal risk factors were observed...
October 2023: Archives of Gynecology and Obstetrics
https://read.qxmd.com/read/35373843/raine-syndrome-report-of-a-novel-mutation-and-review-of-the-different-antenatal-imaging-modalities-used-to-diagnose-this-disease
#6
REVIEW
Georges Rameh, Andre Megarbane, Liliane Jalbout, Elie Snaifer, Souha Saliba, Anwar Nassar, Gihad Chalouhi
Raine syndrome is an autosomal recessive disorder characterized mainly by the presence of exophthalmos, choanal atresia or stenosis, osteosclerosis, and cerebral calcifications. There are around 50 cases described in the literature with a prevalence of less than 1/1,000,000. It is secondary to pathogenic variants in the FAM20C gene, located on chromosome 7p22.3. We report a consanguineous family with 3 affected pregnancies. In the first two, exophthalmos and bone abnormalities were noted, ending in one intra-uterine demise and one neonatal death, without identifying any genetic disorder...
April 4, 2022: Prenatal Diagnosis
https://read.qxmd.com/read/35329839/fetal-nasal-bone-hypoplasia-in-the-second-trimester-as-a-marker-of-multiple-genetic-syndromes
#7
JOURNAL ARTICLE
Hanna Moczulska, Marcin Serafin, Katarzyna Wojda, Maciej Borowiec, Piotr Sieroszewski
Nasal bone hypoplasia is associated with a trisomy of chromosome 21, 18 or 13. Nasal bone hypoplasia can also be seen in other, rarer genetic syndromes. The aim of the study was to evaluate the potential of nasal bone hypoplasia, in the second trimester of pregnancy, as a marker of fetal facial dysmorphism, associated with pathogenic copy number variation (CNV). This retrospective analysis of the invasive tests results in fetuses with nasal bone hypoplasia, after excluding those with trisomy 21, 18 and 13. In total, 60 cases with nasal bone hypoplasia were analyzed...
March 10, 2022: Journal of Clinical Medicine
https://read.qxmd.com/read/35316896/nasal-bone-to-nasal-tip-length-ratio-for-describing-nasal-bone-hypoplasia-and-predicting-trisomy-21
#8
JOURNAL ARTICLE
Emre Ekmekci, Emine Demirel, Sefa Kelekci
Introduction: Fetal nasal bone hypoplasia has been proven to be a strong marker for trisomy 21 during second trimester ultrasonography. Rather than evaluating the nasal bone hypoplasia according to the nomograms, it may be possible to evaluate it with a more practical and specific method. Material and methods: Retrospectively collected data were provided from the saved and stored patient data between 2012 and 2017. Nasal bone length and nasal tip length were measured and the ratio was calculated...
2022: Archives of Medical Science: AMS
https://read.qxmd.com/read/34408481/is-prenatal-diagnosis-necessary-for-fetal-isolated-nasal-bone-absence-or-hypoplasia
#9
JOURNAL ARTICLE
Feng Zhang, Wei Long, Qin Zhou, Jing Wang, Ye Shi, Jianbing Liu, Qiuwei Wang
Purpose: This study aimed to explore the value of chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in the prenatal diagnosis of fetal isolated nasal bone absence (INBA) or isolated nasal bone hypoplasia (INBH). We hope to provide additional relevant information for clinical counseling. Patients and Methods: From November 1, 2018, to March 1, 2020, 55 pregnant women with isolated nasal bone dysplasia were admitted to the Changzhou Maternity and Child Health Care Hospital...
2021: International Journal of General Medicine
https://read.qxmd.com/read/34306001/case-report-uncommon-association-of-itgb4-and-krt10-gene-mutation-in-a-case-of-epidermolysis-bullosa-with-pyloric-atresia-and-aplasia-cutis-congenita
#10
Melinda Matyas, Diana Miclea, Gabriela Zaharie
Background: Epidermolysis bullosa is a rare form of genodermatosis produced by different gene mutations. The junctional form of the disease (JEB-PA) can associate pyloric atresia, renal abnormalities, and aplasia cutis congenita. Case Description: A case of a male preterm newborn with suspicion of digestive tube malformation at fetal ultrasound and who was born by cesarian section. At birth, he presented extensive cutaneous aplasia on the lower limbs and bilaterally under ears; outer ear agenesis; nasal septum hypoplasia; micrognathia; multiple blisters on the face, trunk, and limbs; lower limb deformities and absence of toe nails...
2021: Frontiers in Genetics
https://read.qxmd.com/read/33889037/chromosomal-microarray-analysis-for-the-prenatal-diagnosis-in-fetuses-with-nasal-bone-hypoplasia-a-retrospective-cohort-study
#11
JOURNAL ARTICLE
Hailong Huang, Meiying Cai, Wei Ma, Na Lin, Liangpu Xu
Background: Previous studies have shown a strong correlation between fetal nasal bone hypoplasia and chromosomal anomaly; however, there is little knowledge on the associations of fetal nasal bone hypoplasia with chromosomal microdeletions and microduplications until now. Chromosomal microarray analysis (CMA) is a high-resolution molecular genetic tool that is effective to detect submicroscopic anomalies including chromosomal microdeletions and microduplications that cannot be detected by karyotyping...
2021: Risk Management and Healthcare Policy
https://read.qxmd.com/read/33494995/prenatal-diagnosis-of-familial-22q11-2-deletion-syndrome-in-a-pregnancy-with-concomitant-cardiac-and-urinary-tract-abnormalities-in-the-fetus-and-the-mother
#12
Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis of familial 22q11.2 deletion syndrome in a pregnancy with concomitant cardiac and urinary tract abnormalities in the fetus and the mother. CASE REPORT: A 28-year-old woman primigravid underwent amniocentesis at 23 weeks of gestation because of fetal ultrasound findings of aortic stenosis, interrupted aortic arch (IAA), left multicystic kidney, right hydronephrosis and ureterocele. Amniocentesis revealed a karyotype of 46,XX...
January 2021: Taiwanese Journal of Obstetrics & Gynecology
https://read.qxmd.com/read/32712620/is-noninvasive-prenatal-screening-appropriate-for-pregnant-women-age-35-or-older-in-cases-if-isolated-fetal-nasal-bone-abnormalities-in-the-chinese-han-population
#13
JOURNAL ARTICLE
Yuan Chen, Min Lv, Tian Dong, Qinqing Chen, Yeqing Qian, Baihui Zhao, Qiong Luo
BACKGROUND Ethnic background may affect the prevalence of nasal bone absence and the length of the nasal bone. This study aimed to elucidate the significance of absent or hypoplastic fetal nasal bone in the Chinese Han population and to formulate an optimal management plan for patients age 35 or older in cases of isolated abnormal fetal nasal bone. MATERIAL AND METHODS We prospectively assigned pregnant women whose fetuses had nasal bone absence or hypoplasia to separate groups according to their choice for noninvasive prenatal screening (NIPS) between January 1, 2013, and December 31, 2018...
July 26, 2020: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://read.qxmd.com/read/31604554/development-of-the-human-olfactory-system
#14
REVIEW
Harvey B Sarnat, Laura Flores-Sarnat
This chapter focuses on the development of the human olfactory system. In this system, function does not require full neuroanatomical maturity. Thus, discrimination of odorous molecules, including a number within the mother's diet, occurs in amniotic fluid after 28-30 weeks of gestation, at which time the olfactory bulbs are identifiable by MRI. Hypoplasia/aplasia of the bulbs is documented in the third trimester and postnatally. Interestingly, olfactory axons project from the nasal epithelium to the telencephalon before formation of the olfactory bulbs and lack a peripheral ganglion, but the synaptic glomeruli of the future olfactory bulb serves this function...
2019: Handbook of Clinical Neurology
https://read.qxmd.com/read/30773047/critical-growth-processes-for-the-midfacial-morphogenesis-in-the-early-prenatal-period
#15
JOURNAL ARTICLE
Motoki Katsube, Shigehito Yamada, Yutaka Yamaguchi, Tetsuya Takakuwa, Akira Yamamoto, Hirohiko Imai, Atsushi Saito, Akinobu Shimizu, Shigehiko Suzuki
BACKGROUND: Congenital midfacial hypoplasia often requires intensive treatments and is a typical condition for the Binder phenotype and syndromic craniosynostosis. The growth trait of the midfacial skeleton during the early fetal period has been assumed to be critical for such an anomaly. However, previous embryological studies using 2-dimensional analyses and specimens during the late fetal period have not been sufficient to reveal it. OBJECTIVE: To understand the morphogenesis of the midfacial skeleton in the early fetal period via 3-dimensional quantification of the growth trait and investigation of the developmental association between the growth centers and midface...
February 17, 2019: Cleft Palate-craniofacial Journal
https://read.qxmd.com/read/30481905/-application-of-chromosomal-analysis-for-29-cases-of-fetuses-with-nasal-bone-absence-or-hypoplasia
#16
JOURNAL ARTICLE
L Hou, X X Wang, H L Jiang, T Zhang, L Li, W Y Zhang, X Wang
Objectives: To explore the chromosomal analysis for fetuses with nasal bone absence or hypoplasia. Methods: This was a retrospective study on 29 pregnancies nasal bone absence or hypoplasia which underwent prenatal diagnosis, including chorionic villi (CV), amniotic fluid or cordocentesis.The indication of the procedures and results were evaluated. Result: Fifteen (51.7%, 15/29) of chromosome abnormities were diagnosed with indication of fetal nasal bone absence or hypoplasia, including eight with trisomy 21, two with trisomy 13, two with X chromosome aneuploidy and three with pathogenic copy number variations (CNVs) respectively...
November 20, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://read.qxmd.com/read/29803315/fetoscopic-therapy-for-severe-pulmonary-hypoplasia-in-congenital-diaphragmatic-hernia-a-first-in-prenatal-regenerative-medicine-at-mayo-clinic
#17
JOURNAL ARTICLE
Rodrigo Ruano, Denise B Klinkner, Karthik Balakrishnan, Victoria A Novoa Y Novoa, Norman Davies, Dean D Potter, William A Carey, Christopher E Colby, Amy B Kolbe, Katherine W Arendt, Leal Segura, Hans P Sviggum, Maureen A Lemens, Abimbola Famuyide, Andre Terzic
OBJECTIVE: To introduce the prenatal regenerative medicine service at Mayo Clinic for fetal endoscopic tracheal occlusion (FETO) care for severe congenital diaphragmatic hernia (CDH). PATIENTS AND METHODS: Two cases of prenatal management of severe CDH with FETO between January and August 2017 are reported. Per protocol, FETO was offered for life-threatening severe CDH at between 26 and 29 weeks' gestation. Regenerative outcome end point was fetal lung growth. Gestational age at procedure and maternal and perinatal outcomes were additional monitored parameters...
June 2018: Mayo Clinic Proceedings
https://read.qxmd.com/read/29627779/low-dose-warfarin-maternal-anticoagulation-and-fetal-warfarin-syndrome
#18
JOURNAL ARTICLE
Ana R Sousa, Rita Barreira, Edmundo Santos
Fetuses exposed to warfarin during pregnancy are at an increased risk of developing an embryopathy known as fetal warfarin syndrome or warfarin embryopathy. The most consistent anomalies are nasal hypoplasia and stippling of vertebrae or bony epiphyses. Management of pregnant patients on anticoagulation is challenging. Current guidelines suggest the use of warfarin if the therapeutic dose is ≤5 mg/day. We report the case of a newborn with signs of warfarin embryopathy born from a mother anticoagulated with warfarin due to mechanical mitral and aortic heart valves...
April 7, 2018: BMJ Case Reports
https://read.qxmd.com/read/29396778/fetal-valproate-syndrome-the-irish-experience
#19
JOURNAL ARTICLE
Hamizah Mohd Yunos, Andrew Green
INTRODUCTION: Fetal valproate syndrome was first described in 1984. Valproic acid crosses the placenta and can potentially lead to major congenital malformation, dysmorphism and neurodevelopmental disorder. METHODS: A retrospective study of 29 cases of FVS diagnosed by geneticists from 1995 to 2016. The cases were diagnosed based on criteria of fetal anticonvulsant syndrome. RESULTS: A total of 29 cases reported in the last 21 years. Features commonly described are prominent metopic ridge, midface hypoplasia, epicanthic folds, micrognathia and broad and flat nasal bridge...
November 2018: Irish Journal of Medical Science
https://read.qxmd.com/read/28424010/olfactory-development-part-1-function-from-fetal-perception-to-adult-wine-tasting
#20
REVIEW
Harvey B Sarnat, Laura Flores-Sarnat, Xing-Chang Wei
Discrimination of odorous molecules in amniotic fluid occur after 30 weeks' gestation; fetuses exhibit differential responses to maternal diet. Olfactory reflexes enable reliable neonatal testing. Olfactory bulbs can be demonstrated reliably by MRI after 30 weeks' gestation, and their hypoplasia or aplasia also documented by late prenatal and postnatal MRI. Olfactory axons project from nasal epithelium to telencephalon before olfactory bulbs form. Fetal olfactory maturation remains incomplete at term for neuronal differentiation, synaptogenesis, myelination, and persistence of the transitory fetal ventricular recess...
May 2017: Journal of Child Neurology
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