Outcome of Aneurysmal Septum Primum with Non-restrictive Foramen Ovale in Fetuses with Structurally Normal Hearts: A Tertiary Center Experience
We presented twenty-four cases which also had postnatal echocardiographic examination in our hospital. A t the time of diagnosis of ASP, the mean maternal age was 31.1 ± 5.7 years, the mean gestational age was 28.9 ± 5.9 weeks, the mean birth week was 37.4 ± 3.1 weeks, and the mean birth weight was 2940.8 ± 736.6 g. The postnatal first 3 months prevalences of atrial septal ane urysm, patent foramen ovale and, secundum atrial septal defect (ASD) were 12.5%, 12.5%, 20.8% among fetuses with ASP, respectively. ASP ...
Source: Journal of Fetal Medicine - March 31, 2020 Category: Perinatology & Neonatology Source Type: research

Outcome of Fetuses with Cavum Velum Interpositi Cyst —Experience of a Tertiary Centre
AbstractCavum velum interpositi is the space between the layers of the tela choroidea of the third ventricle. This space occasionally appears as an anechoic lesion in routine  mid-trimester targeted scans because of the presence of fluid inside. This is then called a cavum velum interpositi (CVI) cyst. CVI cyst is a rare finding with varied outcomes. Councellings management are consequently confusing. This study was aimed at assessing the outcome of CVI cysts to g uide the treating clinician and address apprehensions of the expecting couple. Genetic evaluation and MRI to pr...
Source: Journal of Fetal Medicine - March 26, 2020 Category: Perinatology & Neonatology Source Type: research

Intrauterine Fetal Infections: Do-Able Approaches
(Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - March 25, 2020 Category: Perinatology & Neonatology Source Type: research

From Baby Steps to Giant Leaps: A Surprisingly Short Journey
(Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - March 25, 2020 Category: Perinatology & Neonatology Source Type: research

Agenesis of Ductus Venosus: A Case Series
AbstractDuctus venosus agenesis is a rare anomaly which is significantly associated with cardiac, extracardiac and chromosomal anomalies. The prognosis depends on its association with other congenital abnormalities independent of the type of shunt. The aim of this study was to evaluate the ductus venosus in 2nd trimester scans and to  evaluate associated congenital malformations associated with agenesis of the ductus venosus and its feto-neonatal outcome. We performed a retrospective study for a 5 year period from November 2015 to November 2019. Of the 8 cases seen, 2 (25%) had an intrahepatic...
Source: Journal of Fetal Medicine - March 23, 2020 Category: Perinatology & Neonatology Source Type: research

Role of Antenatal Intervention and Pregnancy Outcome in Large Chorioangiomas
AbstractChorioangioma is a non-trophoblastic  benign vascular tumour of the placenta affecting fetal outcome. It has no malignant potential. It is usually diagnosed during the 2nd trimester. These are usually found on the fetal side of the placenta, close to the umbilical cord insertion site protruding into the amniotic cavity. Chorioangi omas can be small or large. Small tumours (less than 5 cm) usually have favourable outcome. Large chorioangiomas (more than 5 cm) usually have an unfavourable outcome and may cause maternal complications like pre-eclampsia, ...
Source: Journal of Fetal Medicine - March 23, 2020 Category: Perinatology & Neonatology Source Type: research

Recent Advances in the Noninvasive Prenatal Testing for Chromosomal Abnormalities Using Maternal Plasma DNA
AbstractNo single invention in the past has created such a rapid and massive impact on clinical obstetric practice as the introduction of noninvasive prenatal screening (NIPS) for chromosomal abnormalities using cell-free DNA in maternal plasma. However, the technology of NIPS which has also been called noninvasive prenatal testing (NIPT) is rapidly evolving. Most clinicians may not be able to fully understand this new technology to enable good clinical practice. This review will be focused on issues that have important clinical implications. NIPT/S is only a screening test and all positive cases must be confirmed by invas...
Source: Journal of Fetal Medicine - March 5, 2020 Category: Perinatology & Neonatology Source Type: research

Change of Editor-in-Chief
(Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - February 26, 2020 Category: Perinatology & Neonatology Source Type: research

The Role of First Trimester Ultrasonography in Antenatal Care: A Study from a Single Perinatal Institute in India
AbstractThe aim of this study was to assess the role of  ultrasound in first the trimester of pregnancy for confirmation of pregnancy, number of fetuses, chorionicity, amnionicity if multiples, viability, assessment of gestational age, identification of structural anomalies and assessment of risk for chromosomal abnormalities. This was a prospective o bservational study. All pregnant women registered within 13+6 weeks were  offered a routine scan between 11+0 and 13+6 weeks. All scans were  done by obstetricians, fetal medicine specialists or radiologists are accredited by the Fetal Medic...
Source: Journal of Fetal Medicine - February 22, 2020 Category: Perinatology & Neonatology Source Type: research

Syphilis in Pregnancy
AbstractSyphilis is a sexually transmitted bacterial disease relevant to pregnancy because it has the potential to cause congenital syphilis if it occurs at any time during pregnancy. An upsurge in cases of syphilis in women and hence congenital syphilis has been reported worldwide recently. 40% of cases can result in spontaneous miscarriages, stillbirth, non-immune hydrops, fetal growth restriction and perinatal death, as well as serious sequelae in liveborn infected children. Pregnancy complications can be avoided by early detection and treatment in the antenatal period. All antenatal women should be screened for syphili...
Source: Journal of Fetal Medicine - February 21, 2020 Category: Perinatology & Neonatology Source Type: research

Chickenpox in Pregnancy
AbstractPregnant women in the tropics like India are more susceptible to varicella zoster infection due to the lower seroprevalence of varicella as compared to temperate regions. Seronegative pregnant women are highly susceptible following a significant exposure owing to the high secondary attack rate of the virus. Fetal transmission could happen transplacentally while neonatal transmission occurs through close contact post partum. Maternal VZV infection could be severe (particularly varicella pneumonia) with high mortality if untreated. Congenital varicella syndrome has an incidence of about 1 –2% and is more likely...
Source: Journal of Fetal Medicine - February 18, 2020 Category: Perinatology & Neonatology Source Type: research

Prospective Comparative Evaluation of Performance of Fetal Growth Charts in the Diagnosis of Suboptimal Fetal Growth During Third Trimester Ultrasound Examination in an Unselected South Indian Antenatal Population
AbstractGrowth standards are key tools in assigning fetal smallness. Growth charts are central to this.  The availability of growth charts with varying conceptual methodology and design makes their comparison imperative to ensure wise clinical decision making. This was a prospective, descriptive and correlational study performed at two fetal medicine centers, on 1019 unselected third trimester South Indian women with singleton pregnancies. The estimated fetal weight (EFW) was calculated from one dataset per woman using the Hadlock III formula. The EFW centiles were obtained from eight prenatal growth charts:...
Source: Journal of Fetal Medicine - February 15, 2020 Category: Perinatology & Neonatology Source Type: research

Normally Grown Non-dysmorphic Stillbirth Post 38 Weeks Gestation and Reduced Fetal Movements: A Matter of Reserve? A Retrospective Study
This study investigates the relationship between placental weight relative to birthweight and risk of stillbirth in non-dysmorphic fetuses  ≥ 38 weeks gestation with no evidence of intrauterine growth restriction. This is a retrospective study of stillbirths who underwent post-mortem between 1st Jan 2011 and 31st Dec 2018 in South East Scotland (n = 55). The control group (n = 74) was matched for gestation, age of mother and maternal BMI. There was a significant difference (p = 0.0117) in the mean ratio of birth weight to placental weight (BW:PW) between the s...
Source: Journal of Fetal Medicine - February 6, 2020 Category: Perinatology & Neonatology Source Type: research

Cytomegalovirus in Pregnancy
AbstractHuman cytomegalovirus is worldwide the most common pathogen causing teratogenic congenital infection. Maternal cytomegalovirus (CMV) infection is a serious health concern as it is associated with severe birth defects like sensori-neural hearing loss, impairment of cognitive development and cerebral palsy. It is acquired by contact with body fluids and by vertical transmission from mother to fetus. Transmission rates are particularly high after primary infection of women. Unlike rubella infection, past infection with CMV and seropositivity at the  time of conception does not confer protection to the fetus. The ...
Source: Journal of Fetal Medicine - January 29, 2020 Category: Perinatology & Neonatology Source Type: research

Prenatal Embolisation of Giant Chorioangioma Using n -Butyl Cyanoacrylate: Technique,  Clinical Course and Perinatal Outcome
We describe a case of giant chorioangioma complicated by high output cardiac dysfunction with imminent hydrops that was treated with embolisation of the feeder artery usingn-butyl cyanoacrylate and discuss how one modality may not fit all cases. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - January 28, 2020 Category: Perinatology & Neonatology Source Type: research

Herpes in Pregnancy
AbstractHerpes simplex virus infection (predominantly HSV2) in pregnancy can be a cause of maternal morbidity. The more serious cause of concern is perinatal transmission of infection resulting in neonatal morbidity and mortality. Genital HSV infection can be primary, non-primary first episode or recurrent infection. Clinical and laboratory diagnosis in pregnant women is similar to non-pregnant women. Direct viral testing (PCR) from lesion's and type specific serology are required to classify type of infection. Vertical transmission occurs during labor and delivery. The  risk is higher in primary and non-primary first...
Source: Journal of Fetal Medicine - January 25, 2020 Category: Perinatology & Neonatology Source Type: research

Rubella in Pregnancy
AbstractRubella, commonly known as ‘German Measles’ is a common childhood viral disease that may affect adults as well. More than half of the infections are either asymptomatic or present with mild flu like illness with a typical maculopapular rash. In contrast, primary rubella infection in pregnancy, especially in the first trim ester, can have serious consequences, namely miscarriage, intrauterine fetal demise or congenital rubella syndrome (CRS). WHO recognizes CRS as the ‘leading vaccine preventable cause of birth defects’. Antenatal management primarily is based on testing for immunity in the f...
Source: Journal of Fetal Medicine - January 14, 2020 Category: Perinatology & Neonatology Source Type: research

Fetal Left Brachiocephalic Vein (LBCV): Visualization and Its Measurements in Indian Population
AbstractLeft brachiocephalic vein, also known as innominate vein runs in upper mediastinum posterior to the  thymus and anterior to the transverse aortic arch and aortic branches. LBCV can be visualized on gray scale as well as color Doppler ultrasound at the level above the 3 vessel view. This is the first Indian study to demonstrate the significance of its routine visualization and its measurements on prenatal ultrasound. Isolated intrathymic LBCV is a normal variant and in isolation does not warrant an alteration in routine management of pregnancy. Absent LBCV or dilated LBCV are pathological and warrant a tho...
Source: Journal of Fetal Medicine - January 14, 2020 Category: Perinatology & Neonatology Source Type: research

Vasa Praevia: A Nightmare to Good Outcome
We report five cases of vasa praevia with different presentations and outcomes. In the first case, vasa praevia was not diagnosed during the  antenatal period and the baby was stillborn due to ruptured fetal vessels. In the other four cases, vasa praevia was diagnosed in antenatal period and all the cases had good outcomes. In one case there was evidence of marginal and velamentous cord insertion in the same placenta. Pregnancies were t erminated in three cases by elective caesarean section with good perinatal outcome. In one case vasa praevia and placenta praevia resolved in third-trimester, and the baby was delivere...
Source: Journal of Fetal Medicine - January 9, 2020 Category: Perinatology & Neonatology Source Type: research

Cost-Effectiveness of First Trimester Screening for Preterm Pre-eclampsia in Lebanon
AbstractTo estimate, for Lebanon, the financial benefit of screening for preterm pre-eclampsia (PE) at 11 –13 weeks gestation combining risk factors with mean arterial pressure and maternal serum placental growth factor. Preterm PE cases delivered during 2010–2018 at Rafik Hariri University Hospital were identified from electronic records. Manual nursing notes were reviewed to confirm the diagnosis using international criteria. For each case, adverse maternal and infant events were noted and billing information extracted. A series of 1000 non-PE pregnancies were identified and billing information recorded....
Source: Journal of Fetal Medicine - January 6, 2020 Category: Perinatology & Neonatology Source Type: research

Epidemiology of TORCH Infections and Understanding the Serology in Their Diagnosis
AbstractTORCH, as coined by Nahmias et al. consists of Toxoplasmosis, other infections (includes, syphilis, HIV, Hepatitis viruses, varicella virus and Parvovirus B19), Rubella, Cytomegalovirus (CMV) and Herpes simplex virus. These infections are transmitted prenatally, perinatally, and postnatally through transplacental passage, contact with blood and vaginal secretions or from exposure to breast milk for CMV, HIV and HSV and infection generally manifests at birth, in infancy or in later years of life. The disease burden is maximum in low to middle-income countries. As treatment and prevention strategies are available for...
Source: Journal of Fetal Medicine - January 2, 2020 Category: Perinatology & Neonatology Source Type: research

Toxoplasmosis in Pregnancy
AbstractToxoplasmosis is a rare but important infection in pregnant women which can potentially cause serious fetal adverse effects. Methods of screening, diagnosing and treating toxoplasmosis in pregnancy have been evaluated for over four decades now but still, there is a lack of robust evidence in these areas to guide care plans. Yet with the advent of newer techniques in imaging and laboratory diagnosis, reasonable protocols can be formulated to optimally mange cases with toxoplasmosis in pregnancy. It is becoming increasingly evident that antenatal treatment definitely helps in reducing fetal and hence neonatal morbidi...
Source: Journal of Fetal Medicine - December 2, 2019 Category: Perinatology & Neonatology Source Type: research

Foetal Venous Anomalies: Experience in a Primary Referral Unit
AbstractCongenital heart disease (CHD) is one of the most common congenital anomalies reported. Incidence of CHD is 8 to 9 per 1000 live births in published data worldwide (Chaudhary and Patil in J Fetal Med 5:221,2018; Hoffman and Kaplan in J Am Coll Cardiol 39(12):1890 –1900,2002; Khalil et al. in Indian Pediatr 31(5):519 –527,1994; Wanni et al. in Heart India 2(3):76 –95,2014). Association of venous anomalies is known and has a significant impact on the  perinatal and postnatal outcome. There is no published data about the incidence and spectrum of foetal venous anomalies in India. We tried to fin...
Source: Journal of Fetal Medicine - November 29, 2019 Category: Perinatology & Neonatology Source Type: research

Neonatal Outcome After Hexoprenaline Compared with Atosiban After Preterm Premature Rupture of Membranes
AbstractPreterm premature rupture of membranes (PPROM) occurs in up to 3% of all pregnancies. Only few comparative studies have investigated potential risks and benefits between different tocolytic substances in women with PPROM. The aim of this study was to compare the neonatal short term outcome after tocolysis with Atosiban or Hexoprenaline in women with PPROM. This is a retrospective observational cohort study of women with PPROM between 24 and 32  weeks of gestation comparing neonatal and maternal outcome after tocolysis with atosiban or hexoprenaline. Outcome parameters were short term neonatal outcome, maternal...
Source: Journal of Fetal Medicine - November 25, 2019 Category: Perinatology & Neonatology Source Type: research

Case Report of Abdominal Lymphangioma
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. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - November 25, 2019 Category: Perinatology & Neonatology Source Type: research

Prenatal Diagnosis of a Fetal Right Ventricular Diverticulum: A Case Report
We present a case of a prenatal diagnosis of right ventricular diverticulum at 20 weeks and 4 days of gestation associated with pericardial effusion. Spontaneous resolution of diverticulum and pericardial effusion was noted in the third trimester scan at around 35 weeks and 5 days. The baby was delivered at 39 weeks and 3 days of gestation by cesarean section for an obstetric indication. The baby was well at 1 year and 2 months of age at the time of writing. Fetal cardiac diverticulum if not associated with rhythm disturbance, signs of ca rdiac failure or other cardiac or e...
Source: Journal of Fetal Medicine - November 23, 2019 Category: Perinatology & Neonatology Source Type: research

Current Status of Noninvasive Prenatal Testing and Counselling Considerations: An Indian Perspective
AbstractUptake of noninvasive prenatal testing (NIPT) is rapidly expanding around the world. Here, we provide an overview of the current global state of NIPT, describe the expansion of the test menu, highlight alternative prenatal test service delivery, and discuss NIPT counseling considerations. We also provide a perspective on utilisation of NIPT in India, which has unique challenges for implementing NIPT given its large population, vast territory, and diverse ethnic groups. The barriers to implementation of NIPT in India are also discussed. Current recommendations regarding use of NIPT made by professional societies var...
Source: Journal of Fetal Medicine - November 15, 2019 Category: Perinatology & Neonatology Source Type: research

Determination of Fetal Transcerebellar Diameter Nomogram in the Second Trimester
AbstractThe aim of the study was obtain nomogram of fetal transcerebellar diameter at 18 –24 weeks of gestation with known prognosis of normal pregnancies. The study included 1236 healthy fetuses in the 18th–24th gestational week of women aged from 18 to 40 years (mean: 28.70 ± 5.26). The transcerebellar diameter, bi-parietal diameter, femur length and abdominal circumference of the fetuses were measured. Additionally, groups were divided according to maternal age and according to body mass index. The transcerebellar diameter of fetuses from 18 to 24 weeks gestation varied fr...
Source: Journal of Fetal Medicine - November 2, 2019 Category: Perinatology & Neonatology Source Type: research

HIV in Pregnancy
AbstractHIV in pregnancy assumes additional importance because of the risk of perinatal transmission. With the increase in number of people living the HIV –AIDS worldwide, better ART policies and improved heath condition, more women with HIV are getting pregnant. Perinatal transmission occurs mostly during labour and delivery; transmission during antenatal period may also occur. Timely administration of appropriate ART, suppressed viral load, approp riate mode of delivery and safe feeding practices can reduce the risk of perinatal transmission to minimal. ART has evolved from single dose therapy to daily fixed-dose l...
Source: Journal of Fetal Medicine - October 23, 2019 Category: Perinatology & Neonatology Source Type: research

Sirenomelia: Study of Three Cases
AbstractSirenomelia is a rare congenital anomaly which is an extreme example of caudal regression syndrome characterized by lower limb fusion, sacral and pelvic bony anomalies with abnormalities in other organ systems, commonly affecting the gastrointestinal and the urogenital systems (Kanagagiri et al. JMSCR 5(7),2017). It is a sporadic occurence with no increased risk in subsequent pregnancies. The syndrome of caudal regression is thought to be the result of injury to the caudal mesoderm early in gestation (Mirzapur et al. Glob J Reprod Med 3(5):555624,2018). Prenatal sonographic findings of sirenomelia (or mermaid fetus...
Source: Journal of Fetal Medicine - October 22, 2019 Category: Perinatology & Neonatology Source Type: research

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 18, 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 s...
Source: Journal of Fetal Medicine - October 8, 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 f...
Source: Journal of Fetal Medicine - September 24, 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 20, 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 ...
Source: Journal of Fetal Medicine - September 19, 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 (
Source: Journal of Fetal Medicine - September 18, 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 a...
Source: Journal of Fetal Medicine - September 17, 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 17, 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 ...
Source: Journal of Fetal Medicine - August 23, 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 25, 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 25, 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 11, 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 tr...
Source: Journal of Fetal Medicine - June 22, 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 retr...
Source: Journal of Fetal Medicine - June 21, 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 famil...
Source: Journal of Fetal Medicine - June 12, 2019 Category: Perinatology & Neonatology Source Type: research

Placento-Cranial Adhesion: A New Syndromic Association
We present autopsy findings of four cases with gestation period ranging from 16 to 21  weeks. All of them displayed placenta-cranial adhesion, low weight for gestation, absence of flat bones of skull, anencephaly, dysmorphic facial features, short umbilical cord and limb/digit amputation with oligohydrambios. Three out of four showed nasal groove. We propose that there are grounds f or syndromic association of the features mentioned above. Furthermore, it is important that whenever such cases are identified termination of pregnancy should be considered. The article also underscores the importance of fetal autopsies. (...
Source: Journal of Fetal Medicine - June 12, 2019 Category: Perinatology & Neonatology Source Type: research

Role of Autopsy in Diagnosis and Genetic Counselling of Congenital Malformations: a Prospective Analytical Study
The objectives of the study were to correlate the findings of antenatal ultrasound with that of perinatal autopsy, to determine the contribution of autopsy in refining the antenatal diagnosis and whether it altered the genetic counseling. This was a prospective, non-interventional analytical study conducted in the Department of Obstetrics and Gynaecology, JIPMER with the approval of Institutional Ethics Committee. Fourty-six fetuses which were stillborn/aborted or expired in newborn period due to congenital malformations were included. The findings of antenatal ultrasound were correlated with postnatal autopsy findings. Th...
Source: Journal of Fetal Medicine - June 10, 2019 Category: Perinatology & Neonatology Source Type: research

Evaluating the Utility of Next Generation Sequencing Technology in the Diagnosis and Prevention of Genetic Disorders in India, the Early Experiences
AbstractTo describe the utilization of Next Generation Sequencing technologies for genetic counseling and prenatal diagnosis. Ten families requested prenatal testing in view of previously affected offspring with genetically heterogeneous/hitherto undiagnosed disorders. Next generation sequencing was offered as a first tier investigation (1) in the probands who had not been diagnosed by baseline investigations, and (2) in cases where preliminary examination/testing suggested a genetically heterogeneous disorder, while the precise diagnosis was not available. The subsequently identified molecular basis enabled prenatal testi...
Source: Journal of Fetal Medicine - June 8, 2019 Category: Perinatology & Neonatology Source Type: research

Platelet and White Blood Cell (WBC) Counts in the First Trimester and Pregnancy Outcome: Prospective Controlled Study
AbstractIn pregnancy, there is usually a degree of thrombocytopenia and leukocytosis. Our aim was to find out if raised platelet and white blood cell counts (WBC) in the first trimester above 300  × 109/L and 10  × 103/mm3, respectively are related to the pregnancy outcome. This is a prospective controlled trial at Jordan University hospital in the period  between June 2017 to September 2018. Pregnant women were enrolled in the study any time less than 14 weeks with platelet count of 300 × 109/L or more and white blood cell count of 10.0  ×&...
Source: Journal of Fetal Medicine - June 6, 2019 Category: Perinatology & Neonatology Source Type: research

Looking Back at Fetal Medicine in India in 2018, and Looking Forward to 2019
(Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - June 4, 2019 Category: Perinatology & Neonatology Source Type: research