Co-existence of CPAM with Megacystis Due to Posterior Urethral Valve and Cardiac Dysfunction in a Monozygotic Twin Pregnancy
We describe a novel combination of CPAM with megacystis due to posterior urethral valves in one of the twins of a monozygotic twin pregnancy. Further, we discuss the cardiovascular effects of megacystis. This was previously considered to be due to pressure effect of megacystis on iliac veins and inferior vena cava. Recently activation of RAS system has been shown to predict the severity of cardiac disease. Further studies will clarify the precise etiology of cardiac dysfunction in LUTO and megacystis. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - October 17, 2019 Category: Perinatology & Neonatology Source Type: research
Frontonasal Malformation Diagnosis in the First Trimester: A Case Report
AbstractDifferent components of the face and the brain develop independently and ultimately unite at the midline. Disruptions in the development and fusion of craniofacial midline give rise to myriad of abnormalities broadly classified as frontonasal malformations. Here, we report a case diagnosed in the first trimester. The fetus had midline cleft of the face extending till forehead, cleft lip and palate, absent nasal tip and arhinia. There was associated alobar holoprosencephaly and polydactyly in all the four limbs. This case illustrates the importance of evaluation of facial profile, retronasal triangle and 3 D scann...
Source: Journal of Fetal Medicine - October 7, 2019 Category: Perinatology & Neonatology Source Type: research
Antenatal Diagnosis of Bilateral Proximal Femoral Focal Deficiency (PFFD)
AbstractProximal femoral focal deficiency (PFFD) is a rare skeletal dysplasia, characterized by hypoplasia of the subtrochanteric femur with variable degrees of shortening of the femoral shaft. There are numerous gene e.g. TBX4, FGF, FGFR, TP63 and HOX responsible for limb formation, type and its shape. Normal limb development is three dimensional; proximodistal axis regulated by AER; anteroposterior axis (preaxial/postaxial) governed by SHH with ZPA and dorsoventral axis controlled by LMX1B. Primigravida with diamniotic dichorionic twins in first trimester was found to have absent right femur, fibula and left femural b...
Source: Journal of Fetal Medicine - September 23, 2019 Category: Perinatology & Neonatology Source Type: research
Umbilical Cord Abnormalities and Pregnancy Outcome
AbstractUmbilical cord anomalies can be related to its morphology (coiling, length and thickness); placental insertion (marginal and velamentous insertion); in utero distortion (knotting, torsion and nuchal cord) vascular abnormalities (single umbilical artery) and primary tumours or masses (haemangioma and teratoma). Some of these conditions may be associated with other foetal abnormalities or aneuploidy. On the other hand, several prenatal complications including intrauterine growth restriction IUGR and stillbirth can be attributed to cord accidents or abnormalities. Early detection and close follow up of umbilical cord ...
Source: Journal of Fetal Medicine - September 19, 2019 Category: Perinatology & Neonatology Source Type: research
Women with Positive First Trimester Thyroid Disease Screening Results
The objective of this study was to follow up women with positive results on routine antenatal screening for maternal thyroid disease. Between November 2009 and September 2015, women having a first trimester Down ’s syndrome screening test were simultaneously screened for thyroid disease; those symptomatic or being investigated for thyroid problems were excluded. A blood sample was tested for anti-thyroid peroxidase antibodies and serum thyroid stimulating hormone, and in the first half of the study also f or free thyroxine. Women with at least one analyte outside the range were classified as positive and referred to an e...
Source: Journal of Fetal Medicine - September 18, 2019 Category: Perinatology & Neonatology Source Type: research
The Effect of the Cause of Delivery on Neonatal Outcomes in Early Preterm Deliveries
AbstractThe aim of this study was to evaluate the effect of causes of delivery on short-term neonatal morbidities and mortality in EPD (< 34 gestational weeks). We retrospectively analysed the deliveries occurring between 23 + 0 and 33 + 6th gestational weeks at our tertiary center during 2014–2018. A total of 290 deliveries were evaluated, and 369 newborns [singletons (56.4%), twins (36.6%) and triplets (7.1%)] were incl uded in the study. The causes of deliveries were defined as spontaneously preterm birth (n = 107, 29%), preterm premature rupture of membranes (PPROM) (n = 131, 35.5%) or iatrogeni...
Source: Journal of Fetal Medicine - September 17, 2019 Category: Perinatology & Neonatology Source Type: research
Fetal MRI to Assess an Aberrant Artery in Bronchopulmonary Sequestration: The Utility of a Single-Shot Turbo Spin Echo Sequence
AbstractDetecting an aberrant artery is the key to diagnosing bronchopulmonary sequestration (BPS) on fetal MRI. Few reports describe the best sequence to use for this purpose. We compared visualization of an aberrant artery in BPS on fetal MRI using single-shot turbo spin echo (SSTSE) and balanced steady state free precession (b-SSFP) sequences. We retrospectively reviewed the fetal MRI of 27 fetuses in which BPS was diagnosed prenatally (2003 –2016). From these we selected 15 fetuses with the pathological diagnosis of BPS made postnatally at operation. All fetuses were examined in 1.5 T MRI units using SSTSE and b-SSF...
Source: Journal of Fetal Medicine - September 16, 2019 Category: Perinatology & Neonatology Source Type: research
Gaucher Disease in Fetus: The Usual and the Unusual Presentations in a Family
AbstractGaucher disease is the most common of the lysosomal storage disorders, with a continuum of clinical features ranging from a perinatal lethal form to an asymptomatic form. Perinatal lethal Gaucher disease (PLGD), also known as fetal Gaucher disease is a distinct, severe form of type II Gaucher disease and typically presents as non- immune hydrops fetalis, hepatosplenomegaly and ichthyosiform abnormalities in the fetal life. We herein report a family with a spectrum of usual (i.e. hepatosplenomegaly) and unusual (i.e. absence of hydrops and presence of significant intrauterine growth restriction) features of PLGD wit...
Source: Journal of Fetal Medicine - September 16, 2019 Category: Perinatology & Neonatology Source Type: research
Exome Sequencing Identifies RET Associated Hirschsprung Disease in a Fetus with Echogenic Bowel
AbstractThis is report of a case ofRET associated Hirschsprung disease in a fetus diagnosed using exome sequencing. The fetus initially presented with echogenic bowel at 16 weeks with maternal first trimester serum screen showing increased risk for Trisomy 21. Amniotic fluid karyotype, ΔF508CFTR genotype and maternal TORCH serology were normal. Subsequent ultrasonograms showed dilated bowel loops, predominantly large bowel. Following delivery at 24 weeks, a post-mortem examination was performed. Dilated bowel was confirmed with no structural gut abnormality and no other dysmorphic finding. Histopathology revealed agan...
Source: Journal of Fetal Medicine - August 22, 2019 Category: Perinatology & Neonatology Source Type: research
Focus on Prenatal Detection of Micrognathia
AbstractFetal micrognathia involves abnormal or arrested development of the fetal mandible. Till recently, the prenatal diagnosis was subjective, based on the evaluation of the fetal profile and assessment of the relationship between the maxilla and the mandible. Recently objective sonographic methods have been utilized for diagnosing micrognathia such as the inferior facial angle, the jaw index, the frontal nasomental angle, the mandible width/maxilla width ratio and the mandibular length. Another useful sonographic sign, the mandibular gap in the retronasal triangle view, increases the accuracy of the diagnosis early in ...
Source: Journal of Fetal Medicine - July 24, 2019 Category: Perinatology & Neonatology Source Type: research
Prenatal Diagnosis of Atretic Occipital Cephalocele: A Case Report
AbstractAtretic cephaloceles refer to the congenital herniation of meningeal and vestigial tissues such as arachnoid, glial or neural rests. These small, skin covered subscalp lesions usually appear within a few centimetres of the lambda and nearly half of them have a parietal situation, the remaining half have occipital, parieto-occipital, frontal, asterion, and sincipital locations. Atretic cephaloceles can be isolated or associated with congenital syndromes, agenesis of corpus callosum, grey matter heterotopias, ventriculomegaly, mental retardation, developmental delay, epilepsy, spasticity, speech difficulty, strabismu...
Source: Journal of Fetal Medicine - July 24, 2019 Category: Perinatology & Neonatology Source Type: research
Cystic Lesion in the Fetal Scalp: A Systematic Approach
The objective of this communication is to illustrate a few cystic lesions in the feta l scalp and suggest a systematic approach in arriving at a diagnosis. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - July 10, 2019 Category: Perinatology & Neonatology Source Type: research
Two Dimensional Visualization of Optic Chiasma in Fetus
AbstractThe purpose of this study is to investigate methods to visualize and measure the fetal optic chiasma (OC) using transabdominal and/or transvaginal two-dimensional (2D) ultrasound in the coronal plane. The role of analyzing optic chiasma cannot be down scaled in prognosticating septo-optic dysplasia (SOD) and agenesis of septum pellucidum. This is a retrospective study of 117 random cases referred for various indications. The gestational age of the fetuses included in the study was between 19 and 37 weeks. The OC was visualized and measured in the 2D coronal plane with color Doppler by transabdominal and/or transv...
Source: Journal of Fetal Medicine - June 21, 2019 Category: Perinatology & Neonatology Source Type: research
Role of TUI in First Trimester Evaluation of Palate
AbstractThe purpose of the study is to report on the application of tomographic ultrasound imaging (TUI) in prenatal sonographic study of fetal palate in 11 –14 week scan. TUI is a technology that allows the examiner to obtain a volume data set that allows the display of numerous 2D slices from a given volume on any of the three orthogonal planes. It allows automatic slicing of the volume datasets displaying multiple parallel images. The fetal palate was examined with TUI in thirteen abnormal volumes and in ninety-four normal volumes. The appearance of maxillary line in sagittal sections and the base of the retronasal t...
Source: Journal of Fetal Medicine - June 20, 2019 Category: Perinatology & Neonatology Source Type: research
Recurrence of Trisomic Pregnancies in Four Families: A Cytogenetic and Molecular Study
The objective of the present study was to determine low level mosaicism in either of the couple and to identify the parental origin of additional chromosome 21/18. The four couple s who had recurrent trisomic conceptions were investigated for the underlying mosaicism by analysis of 100 cells from peripheral blood of the couple and the parental origin of supernumerary chromosome 21/18 were identified using microsatellite markers. Low level mosaicisms in peripheral lymphocytes of couple were ruled out for all four families. Microsatellite markers have shown maternal origin of chromosomal nondisjunction for all the families ...
Source: Journal of Fetal Medicine - June 11, 2019 Category: Perinatology & Neonatology Source Type: research
