Journal of Fetal Medicine

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Meckel-Gruber Syndrome in Twin Pregnancy: A Case Report
Journal of Fetal Medicine - Tập 9 - Trang 75-78 - 2022
Kadir Atakir, Emine Aylin Atakir
Meckel-Gruber syndrome is a rare, OR-transitive and fatal disease. Prenatal diagnosis is important, especially in regions where consanguineous marriages are common. The classic triad of the disease is occipital meningoencephalocele, renal anomalies and postaxial polydactyly. The diagnosis is made by the presence of two of these three major features. Just over 200 cases have been reported in the wo...... hiện toàn bộ
Increased Positive Predictive Value for a Single-Nucleotide Polymorphism-Based Non-invasive Prenatal Test for the 22q11.2 Deletion
Journal of Fetal Medicine - Tập 5 - Trang 65-67 - 2018
Allison Ryan, Sushma Iyengar, Zachary Demko
Non-invasive prenatal testing (NIPT) has expanded its coverage beyond the common aneuploidies to include subchromosomal abnormalities such as the 22q11.2 deletion through the analysis of cell-free DNA. We previously reported a positive predictive value (PPV) of 18% and false-positive rate (FPR) of 0.38% for a single-nucleotide polymorphism (SNP)-based NIPT for fetal 22q11.2 deletion in a clinical ...... hiện toàn bộ
Prenatal Diagnosis of Rhombencephalosynapsis
Journal of Fetal Medicine - Tập 4 - Trang 41-45 - 2016
Ashutosh Gupta, Tauqeer Syed Fazal, Anjali Kumar, Sanjay Mehta, Pankaj Saini
Rhombencephalosynapsis (RS) is a rare and sporadic cerebellar malformation characterized by agenesis of cerebellar vermis, fusion of the cerebellar hemispheres, dentate nuclei, and superior cerebellar peduncles. In majority of cases, RS is associated with wide range of cerebral malformations (dysgenesis or agensis of corpus callosum (ACC) and anterior commissurae, fusion of the inferior colliculi,...... hiện toàn bộ
Prenatal Ultrasound Diagnosis of Diastematomyelia at 11–14 Week Scan
Journal of Fetal Medicine - Tập 4 - Trang 157-164 - 2017
Selvaraj Ravi Lakshmy, Nity Rose, Masilamani Praveen Kumar, Umapathy Shobana
Diastematomyelia is a rare form of congenital spinal anomaly in which the spinal cord is longitudinally split by a rigid or fibrous septum. Prenatal diagnosis of this condition has mainly been reported in the mid trimester. The authors report two cases of diastematomyelia detected at the 11–14 week scan with a brief review of literature. One case detected in the late first trimester was associated...... hiện toàn bộ
A Case of Coumarin Embryopathy After in Utero Exposure to Acenocoumarol
Journal of Fetal Medicine - - 2018
Ankur Singh, Astha Panghal, Rajniti Prasad, Om Prakash Mishra
Coumarins (warfarin, acenocoumarol, phenprocuomon) are well known agents that are prescribed for prevention of thromboembolic episodes in pregnant women who are on mechanical heart valves prosthesis. It acts as double edge sword as fetus is unnecessarily exposed to teratogenic effect of drug. Warfarin is well studied drug in terms of its tetratogenic dose, period of exposure, fetopathic effects. A...... hiện toàn bộ
Antenatal Diagnosis of Klippel–Trenaunay–Weber Syndrome
Journal of Fetal Medicine - Tập 2 - Trang 83-86 - 2015
Ashutosh Gupta, Anjila Aneja, Sanjay Mehta, Pankaj Saini
Klippel–Trenaunay–Weber syndrome (KTWS) is a rare congenital disease characterized by cutaneous hemangiomas, soft tissue, and bone hypertrophy. It may be associated with arteriovenous malformation involving deeper pelvic organs. We present a prenatally-diagnosed case of KTWS identified at 26 weeks. Antenatal ultrasound identified subcutaneous hemangioma with soft tissue hypertrophy with unilateral...... hiện toàn bộ
Vaginal Progesterone in Asymptomatic Women with Short Cervical Length on Ultrasound: is it Beneficial?
Journal of Fetal Medicine - - 2015
Anjali Gupta, Suman Sharan, Jyotsna Sen
AbstractThe aim of the present study was to determine the efficacy of vaginal progesterone in asymptomatic women with a sonographic short cervix (≤25 mm) at 18–24 weeks of gestation in reducing the risk of preterm birth. It was a prospective observational study carried out on 60 pregnant women attending the antenatal clinic in tertiary health institute between 18 a...... hiện toàn bộ
Exciting Times in Fetal Medicine Require a New Journal
Journal of Fetal Medicine - Tập 1 - Trang 1-2 - 2014
I. C. Verma
A Comparative Study of Fetal MRI and Antenatal Ultrasound in Prenatal Diagnosis with Histopathological Correlation
Journal of Fetal Medicine - Tập 9 - Trang 83-90 - 2022
Vikram Patil, Mohd Tafheem, Shivanand Melkundi, Suresh Masimade
The aim of this study was to assess the role of magnetic resonance imaging (MRI) in the diagnosis of fetal anomalies and its correlation with antenatal Ultrasound (US) and histopathology. The study was conducted in the Department of Radiodiagnosis, Basaveshwar Teaching and General Hospital attached to Mahadevappa Rampure Medical College, Kalaburagi. It was conducted over 6 months and included preg...... hiện toàn bộ
Case Report of Abdominal Lymphangioma
Journal of Fetal Medicine - Tập 6 - Trang 205-209 - 2019
Purvi D. Desai, Priyanka A. Surani, Ragini N. Verma, Binodini M. Chauhan
We present a case of massive abdominal lymphangioma in a fetus diagnosed at 28 weeks of gestation. The lesion was located in the abdomen involving lower part of thorax and entire abdominal wall, extending down to the right gluteal region. Detailed structural anomaly scan was performed, growth of the fetus assessed and patient was managed expectantly till delivery.
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