Thanatophoric Dysplasia and the Brain —A Perinatal Pathology Study
AbstractThe purpose of this article is to analyse all cases of thanatophoric dysplasia and document the associated CNS anomalies. A retrospective study of all cases of thanatophoric dysplasia diagnosed in the department of perinatal pathology from January 2009 to December 2016. The various associated findings with due reference to the CNS manifestations were analyzed. During the study period, 7741 foetal autopsies were done, of which 24 (0.31%) were diagnosed to have thanatophoric dysplasia. The brain of one case was autolysed and hence, this had been excluded from this study. Of the 23 cases, 19 were of type 1 (83%) and...
Source: Journal of Fetal Medicine - September 1, 2018 Category: Perinatology & Neonatology Source Type: research
Sonographic Evaluation of Umbilical Vein
AbstractTo evaluate intraabdominal course of umbilical vein, its relation with portal vein and ductus venosus and its anomalies. All pregnant women were examined during midtrimester anomaly scan between January 2015 and December 2017. With evaluation of umbilical vein in its intraabdominal course, size of umbilical vein, its relation to the stomach and the gallbladder and origin of ductus venosus were studied in middle and upper abdominal axial and sagittal planes by two dimensional and colour doppler sonography. Anastomosis of umbilical vein with portal vein and its further course was examined and detailed anatomical surv...
Source: Journal of Fetal Medicine - September 1, 2018 Category: Perinatology & Neonatology Source Type: research
Prenatal Diagnosis of Isolated Redundant Foramen Ovale: A Case Report
Abstract
Redundant foramen ovale (RFO) is defined as an abnormally redundant foramen ovale flap that extends at least halfway across the left atrium. The exact pathogenesis is unknown. Premature, isolated, in utero RFO is rare. The prevalence in general population is unknown as it may be easily ignored on routine fetal echocardiography. The reported frequency in fetuses referred for echocardiographic examination is 0.6 –1.7%. It can cause right ventricular volume overload leading to fetal hydrops and subsequent cardiac failure. In such cases, prompt delivery depending on fetal gestational age may be instrumental for t...
Source: Journal of Fetal Medicine - September 1, 2018 Category: Perinatology & Neonatology Source Type: research
Foetal Cardiac Anomalies: Experience in a Primary Referral Centre
AbstractCongenital heart disease (CHD) is one of the most common congenital anomalies reported. Incidence of CHD is 8 –9 per 1000 live births in data published from the west. There is very little published data on the incidence of foetal cardiac anomalies in India. We tried to find out incidence and spectrum of foetal cardiac anomalies in second and third trimester during routine ultrasound examination in a prima ry referral centre. Of 11,760 fetuses in the 2nd and 3rd trimester, 104 were found to have cardiac anomalies with incidence of 8.8 per 1000. Ventricular septal defect was the most common lesion, followed by cham...
Source: Journal of Fetal Medicine - August 16, 2018 Category: Perinatology & Neonatology Source Type: research
Diagnosis of Acrania Before 11 Weeks
We examined embryos/fetuses of 8 –11 weeks between March 2015 and February 2018, the period corresponds to CRL 16–44 mm and also corresponds to late embryonic and early fetal periods by transvaginal and transabdominal sonography. We assessed shape of the skull and intracranial brain vesicles. Additionally, embryonic brain ana tomy was also assessed by three-dimensional ultrasound. We found 12 abnormal cases, 5 cases between CRL 16–30 mm and 7 cases between CRL 31–44 mm. We followed all cases between 11 and 13 weeks and confirmed acrania with loss of variable amount of brain tissues. Acrania–Exencephaly–Ane...
Source: Journal of Fetal Medicine - August 7, 2018 Category: Perinatology & Neonatology Source Type: research
ALG9 Associated Gillessen-Kaesbach –Nishimura Syndrome (GIKANIS): An Uncommon Aetiology of Enlarged Foetal Kidneys
AbstractThere are innumerable causes of enlarged kidneys along with dysmorphism in the foetus. Various chromosomal microdeletion syndromes, ciliopathies, Zellweger syndrome, Perlman syndrome and congenital disorders of glycosylation. CDG are a large group of syndromes which cause disruption of one of the several synthetic pathways of glycan synthesis. Here, we describe an unusual and extremely rare presentation cause of enlarged foetal kidneys due to a novel missense variant causing Gillessen-Kaesbach –Nishimura syndrome. The role of deep phenotyping is emphasised as it is a pre-requisite for making a diagnosis and estab...
Source: Journal of Fetal Medicine - August 4, 2018 Category: Perinatology & Neonatology Source Type: research
The Effect of Garlic Pills on Serum Nitric Oxide and Preeclampsia Prevention in Healthy Nulliparous Pregnant Women: A Randomized, Controlled Clinical Trial
AbstractThe present study aimed to determine the effect of garlic pills on serum nitric oxide and preeclampsia prevention in healthy nulliparous pregnant women. This randomized clinical trial was conducted among 215 nulliparous pregnant women. The participants were assigned into control and intervention groups. The intervention and control groups received garlic pills and placebo, respectively for 16 weeks from 20 week of gestation. Serum nitric oxide was measured 12 weeks after the intervention. Women were followed up for preeclampsia until childbirth in several visits. Data were analyzed using statistical package for...
Source: Journal of Fetal Medicine - August 1, 2018 Category: Perinatology & Neonatology Source Type: research
A Case of Coumarin Embryopathy After in Utero Exposure to Acenocoumarol
We report a neonate who was exposed to acenocoumarol throughout intra uterine life. Neonate showed all features of coumarin embryopathy (flat facial profile, depressed nasal bridge, short columella, skeletal stippling, short distal phalanges in hand) and cephalhaematoma in addition. We also summarised the clinical findings of all the cases reported so far of acenocoumarol embryopathy. Acenocoumarol has same t eratogenic potential as of warfarin. Doses causing embryopathy remained unexplored field. Clinicians need to document properly so that scientific data can be generated as ethical issues arises in head to head trial...
Source: Journal of Fetal Medicine - July 31, 2018 Category: Perinatology & Neonatology Source Type: research
A Case of a Complete Hydatidiform Molar Pregnancy with a Co-existent Live Fetus
We report a case of a 35 years-old patient with raised β-hCG levels of 10.2 MoM and sonographic findings suggestive of a molar pregnancy at 15 weeks, who chose to continue the pregnancy after extensive counselling. With close surveillance, we managed to continue the pregnancy till 36 weeks, when the pregnancy was termi nated via an elective Caesarean in view of fetal growth restriction with oligohydramnios, cerebral redistribution and previous 2 LSCS. A baby boy weighing 1600 grams was born with an Apgar score of 8, 9. Placental histopathology and microscopy showing large distended and cystic dilated villi with od ema...
Source: Journal of Fetal Medicine - July 2, 2018 Category: Perinatology & Neonatology Source Type: research
