Cytogenetic Analysis of Spontaneous Miscarriages Using Long-Term Culturing of Chorionic Villi
AbstractSpontaneous miscarriages are strongly associated with fetal chromosomal abnormalities. We sought to validate the occurrence of chromosomal abnormalities in Japanese patients with early spontaneous miscarriages using a conventional long-term culture method. One hundred and thirty-two patients were studied after excluding 7 cases with culture failure. Chromosomal analysis of 132 cases was performed using a long-term culture method of the villous placental tissue. Patients ’ age, number of previous spontaneous abortions, fetal data from ultrasonography, and the method of conception (ART or spontaneous pregnancy) wer...
Source: Journal of Fetal Medicine - November 29, 2018 Category: Perinatology & Neonatology Source Type: research
Familial 22q11.2 Deletion: Pregnancy Options and Management
This report describes a familial 22q11.2 deletion diagnosed during pregnancy using an emerging technology, Bacterial artificial chromosome on Beads (BoBs). We discuss the implications of prenatally detected DGS and future options to prevent the recurrence. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - November 13, 2018 Category: Perinatology & Neonatology Source Type: research
Detection of Open Spina Bifida in the First Trimester: Beyond Intracranial Translucency
AbstractIntracranial translucency (IT) has been used extensively as an indirect marker to exclude open spina bifida (OSB) in the first trimester. Like any sonographic sign, the use of IT is fraught with issues like non-visualization due to shadowing from bone, poor distinction from the adjacent hypoechoic brainstem, etc. In view of these challenges, researchers have come up with additional markers of OSB in the first trimester. The aim of this paper is to illustrate these sonographic clues so as to improve diagnostic accuracy in cases where obliteration of IT is equivocal. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - October 23, 2018 Category: Perinatology & Neonatology Source Type: research
Trends and Outcomes After Prenatal Diagnosis of Congenital Cardiac Defects: Experience of a Dedicated Fetal Medicine Centre from South India
AbstractThe primary objective of the study was to present a 5-year data on the outcomes after prenatal diagnosis of CHD. This is a retrospective descriptive study, conducted in the fetal medicine unit of an academic tertiary care referral centre in South India. The details of all cases with a prenatal diagnosis of fetal cardiac lesions from January 2012 through December 2016 were collected. All cases were systematically analyzed for type of lesion, associated malformations, chromosomal abnormalities, prognosis of the lesion, the decision taken by the couples and the information regarding post natal outcome, wherever availa...
Source: Journal of Fetal Medicine - September 19, 2018 Category: Perinatology & Neonatology Source Type: research
Treacher Collins Syndrome: Before and After Antenatal Diagnosis by Ultrasonography
AbstractFetal 3D USG image showing receded jaw and small ears at 31 weeks gestation. In the family history, elder sibling had a clinical diagnosis of Treacher Collins syndrome. Parents were apparently normal; however mother’s radiograph of skull was suggestive of mild hypoplasia of zygomatic arch. As the pregnancy was more than 20 weeks it was continued till te rm. Second image showed the post natal correlation of the USG finding. The severe micrognathia and microtia are clearly seen. The newborn suffered severe respiratory distress and expired at 36 h of life. Around 40% of the cases of autosomal dominant Treacher C...
Source: Journal of Fetal Medicine - September 5, 2018 Category: Perinatology & Neonatology Source Type: research
Fetal Cardiac Anomalies
AbstractThis review is intended to give a practical guide to ultrasound recognition of the commonly observed fetal cardiac abnormalities and their key features on standard imaging planes during antenatal anomaly screening examinations. All information provided here, on the diagnosis and management of fetal cardiac anomalies, is based on the personal experiences of the authors and their expert reviews of the selected previously published studies. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - September 1, 2018 Category: Perinatology & Neonatology Source Type: research
Idiopathic Arterial Calcification: Experience from a Single Center in South India
Abstract Idiopathic arterial calcification of infancy is a rare autosomal recessive disease, characterized by deposition of calcium along the internal elastic membrane of arteries, accompanied by fibrous thickening of the intima which causes luminal narrowing. We hereby report a series of 20 cases seen over a period of 10 years. Nineteen cases were reported as idiopathic arterial calcification and one was reported as arterial calcification in a twin reversed arterial perfusion sequence. The sites of calcification were mainly aortic valve and root of aorta which was involved in 100% of case s followed by pulmonary artery...
Source: Journal of Fetal Medicine - September 1, 2018 Category: Perinatology & Neonatology Source Type: research
Strain Cervical Elastography in Pregnancy: Feasibility Study and Its Usefulness in Prediction of Preterm Birth
AbstractCervix in pregnancy is a biomechanical barrier holding the uterine contents till the time of parturition. The feasibility and reproducibility of assessing cervical tissue stiffness for predicting preterm birth by a standard method using strain cervical elastography were studied here. The prospective study included use of transvaginal strain elastography assessment of cervix at 22 –24 weeks in three regions of interest: (1) Endocervical canal and entire cervix in mid-sagittal plane (2) At the level of external os in cross section and (3) at the level of internal os in cross-sectional plane, with constant pressure...
Source: Journal of Fetal Medicine - September 1, 2018 Category: Perinatology & Neonatology Source Type: research
Giant Congenital Intracranial Immature Teratoma: A Case Report and Review of Literature
We presented a case of giant fetal intracranial tumour diagnosed antenatally at 28 weeks of gestation in sonography. The magnetic resonance imaging confirmed a large hetrogenous intracran ial mass with bilateral ventriculomegaly. Because of the large size of the tumor and associated macrocephaly, the baby was delivered by caessaran section. On delivery, fetal head size was 44.5 cm with wide suture and left facial nerve was involved. Ventriculoeritoneal shunt was inserted on 4th pos tnatal day, however complete surgical resection of tumour was not performed because of parents refusal. Neonate had rapid increase in head s...
Source: Journal of Fetal Medicine - September 1, 2018 Category: Perinatology & Neonatology Source Type: research
Early Second-Trimester Spontaneous Miscarriage Due to Fourth Ventricle Choroid Plexus Papilloma
AbstractMiscarriage due to fetal tumors is an extremely rare finding, with a varying incidence from 1.7 to 13.5 per 100,000 live births, with central nervous system tumors occupying a minority of these cases. Herein, we report the gross morphological and histological findings of a 17-gestational week spontaneous miscarriage in a 27 year old multi-gravida due to a fourth ventricle choroid plexus papilloma (CPP). The CPP was composed of a pronoun fibro-vascular stroma covered with a dense lining of tall cuboid sparsely ciliated single cell layer with rich in chromatin nuclei. The cytoplasm of the CPP covering cells was int...
Source: Journal of Fetal Medicine - September 1, 2018 Category: Perinatology & Neonatology Source Type: research
First-Trimester Contingent Screening for Trisomy 21 by Fetal Nuchal Translucency and Maternal Serum Biomarkers and Maternal Blood Cell-Free DNA Testing
AbstractAnalysis of cell-free DNA in maternal blood has been proposed as a novel screening method for evaluation of aneuploidies. The higher performance of this technique in screening of trisomies compared to all currently available methods would lead to widespread use of this technique in clinical settings. In total, 1,066,829 singleton pregnancies referred to Nilou Clinical Laboratory were screened for chromosomal trisomies during a period of 12 years. First-trimester screening (FTS), Triple and Quad markers of second-trimester screening (STS) as well as integrated results have been obtained from 444,515, 34,984, 560,8...
Source: Journal of Fetal Medicine - September 1, 2018 Category: Perinatology & Neonatology Source Type: research
Rupture of Non-communicating Rudimentary Horn of Unicornuate Uterus with Pregnancy
We describe a case which presented with the rupture of non-communicating horn with live fetus inside it. The present case had a 22 week fetus floating in the peritoneal cavity following the rupture of non-communicating horn with normal other uterine horn. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - September 1, 2018 Category: Perinatology & Neonatology Source Type: research
Sincipital Encephalocele, a Rare Anomaly Diagnosed Antenatally in the Late Pregnancy
AbstractA case of sincipital encephalocele with intracranial cyst is presented which was diagnosed at 35 weeks gestational age in a patient who had undergone no ultrasound examination earlier. The purpose of this article is to make the radiologists and the obstetricians aware of this condition, prognosis, and complications. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - September 1, 2018 Category: Perinatology & Neonatology Source Type: research
