Appraisal of Short- and Long-Term Outcomes of Partial Versus Complete HELLP Syndromes: A Retrospective Cohort Study
AbstractTo compare short-term outcomes at index and subsequent pregnancies, as well as the long-term medical complications encountered later than  5 years after index pregnancy incomplete and partial HELLP syndromes. Pregnancies complicated by partial HELLP or complete HELLP during a period of 19 years were identified. Searches were limited to cases before 2012 to ensure an adequate follow-up period. Data on index or subsequent pregnancie s occurring at our center were extracted from the hospital database, while data pertaining to subsequent obstetric outcomes when deliveries occurred elsewhere together wi...
Source: Journal of Fetal Medicine - September 17, 2021 Category: Perinatology & Neonatology Source Type: research

Congenital Intracranial Teratoma —An Intractable Enigma: A Case Report and Review of Literature
We present a fetus incidentally diagnosed with intracranial teratoma by US and MRI at 36 weeks of gestation. Elective cesarean was performed for anticipated labor dystocia. A female baby with head circumference >  99th centile was delivered. Due to the invasive growth potential of the tumor, the baby succumbed at 4 months of palliative care. Further research is required for devising new treatment modalities to tackle this intractable condition. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - August 31, 2021 Category: Perinatology & Neonatology Source Type: research

Impact of Selection of Growth Chart in the Diagnosis of Suboptimal Fetal Growth and Neonatal Birthweight and Correlation with Adverse Neonatal Outcomes in a Third Trimester South Indian Antenatal Cohort; A Prospective Cross-Sectional Study
AbstractObjectives: To compare fetal and neonatal growth charts pertaining to different models (population-specific, universal reference, universal standard and fully customised) in detecting suboptimal fetal growth in the third trimester. Methods: This was a prospective observational study conducted at two fetal medicine centers. After applying the inclusion criteria [singleton pregnancies between 28 and 40  weeks, verified dates and estimated fetal weight (EFW) ≤ 25th centile as per the Hadlock chart], 292 women were consecutively recruited. Four fetal growth charts (Hadlock, Intergrowth, fully cust...
Source: Journal of Fetal Medicine - August 16, 2021 Category: Perinatology & Neonatology Source Type: research

Prenatal Diagnosis of Prune Belly Syndrome: A Case Report
We report Ultrasound (US) and Magnetic Resonance Imaging (MRI) findings of a case of prune belly syndrome diagnosed at 20  weeks of gestation. US showed grossly dilated fetal urinary bladder, dilated ureters and kidneys with no identifiable renal parenchyma, mild ascites and severe oligohydramnios. Fetal MRI confirmed the ultrasound findings. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - August 15, 2021 Category: Perinatology & Neonatology Source Type: research

Two Cases of Fetal Lower Urinary Tract Obstruction (LUTO) with Similar Presentations Before But Contrasting Outcomes After Fetoscopic Laser Fulguration of Posterior Urethral Valves
We report two cases of fetal cystoscopic laser valvotomy with fairly similar pre-operative profiles but contrasting postnatal outcomes, which re-iterates the fact that case selection in such cases continues to be a challenge. These are the first case reports on fetoscopic laser valvotomy in India to the best of our knowledge. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - July 25, 2021 Category: Perinatology & Neonatology Source Type: research

Intracranial Extracerebral Ectopic Brain Tissue (Glioneuronal Heterotopia): Rare Case Report
We report prenatal ultrasonographic and magnetic resonance imaging (MRI) findings of isolated extracerebellar ectopic brain tissue in the posterior fossa of a 22  weeks fetus. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - July 7, 2021 Category: Perinatology & Neonatology Source Type: research

Prenatal Diagnosis for a Novel Missense Mutation in X-Linked Intellectual Disability Gene Followed by Favorable Pregnancy Outcome
AbstractIntellectual disability (ID) is still unexplained in 60% of cases and prenatal diagnosis is very challenging for this condition. A second gravida presented to us at 6  weeks of gestation for counseling. Her previous child had been diagnosed with ID and autism. Detailed family history showed that her brother also had ID. Screening investigations were normal for the affected child. Exome sequencing report revealed variation of unknown significance (VOUS) onSIN3A gene andUPF3B gene. The variation in X-linkedUPF3B gene was reclassified as novel pathogenic variation after segregation studies with parents and a...
Source: Journal of Fetal Medicine - July 1, 2021 Category: Perinatology & Neonatology Source Type: research

SFM Clinical Practice Recommendations for Prenatal Invasive Diagnostic Procedures
AbstractDiagnostic prenatal invasive testing currently forms an integral and extremely significant component of the practice of obstetric care and has a twofold purpose. The primary aim is to offer management options and informed decision making to pregnant women and their companions. The secondary aim is to ensure that every fetus has an optimal outcome. Currently, most professional societies offer guidelines on prenatal invasive testing based on specific indications. Society of Fetal Medicine (SFM) clinical practice recommendations are developed for use by all practitioners of fetal and maternal healthcare. They are inte...
Source: Journal of Fetal Medicine - June 30, 2021 Category: Perinatology & Neonatology Source Type: research

A Rare Case Report of Prenatal Diagnosis of Bladder Exstrophy
We report a case and highlight the role of analysing various findings to come to a diagnosis. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - June 21, 2021 Category: Perinatology & Neonatology Source Type: research

Distribution of Fetal Anomalies According to International Statistical Classification of Diseases 10th Revision for Congenital Malformations and Chromosomal Defects: A Descriptive Study
This study attempts to extrapolate the utility of this classification in coding fetal anomalies prenatally to provide data on their burden and distribution at a tertiary referral centre. To apply ICD-10 coding system for congenital malformations and chromosomal defects an tenatally to study the distribution pattern of fetal anomalies and its correlation with postnatal coding, 150 consenting women with prenatal diagnosis of fetal malformation were recruited over a period of 18 months between March 2017 and October 2018. A provisional ICD-10 code was assigned based on antenatal ultrasound findings which was revised agai...
Source: Journal of Fetal Medicine - June 14, 2021 Category: Perinatology & Neonatology Source Type: research

Multifetal Pregnancy Reduction in Quadruplets: Perinatal Outcome —Analysis of 20 Consecutive Cases
AbstractHigh order multiple pregnancy (HOMP) is defined as presence of three or more fetuses in utero. These pregnancies are often met with increased maternal and perinatal complications. The incidence of HOMP has been rising considerably with increasing usage of assisted reproductive techniques (ART). Multifetal pregnancy reduction (MFPR) is a standard procedure aimed to minimise maternal –fetal complications by converting high order multiples into twins or singletons. While the procedure has been well researched in triplets, literature is sparse for quadruplets. This is a case series of 20 consecutive cases of MFPR...
Source: Journal of Fetal Medicine - June 11, 2021 Category: Perinatology & Neonatology Source Type: research

Diffuse Cortical Dysplasia in the Donor of Twin-to-Twin Transfusion Syndrome Following Fetoscopic Laser Photocoagulation: A Case Report
We report the case of a TTTS donor twin with diffuse cortical dysplasia. Fetoscopic laser photocoagulation was performed at 18 weeks  of gestation, and no abnormalities were noted in the subsequent course of the pregnancy; however, infantile spasms developed at 4 months after birth, and brain magnetic resonance imaging revealed diffuse cortical dysplasia. It was bilateral and widespread. A genetic abnormality was suspected, bu t no pathogenic mutation was detected. Hypoperfusion may have altered the expression of guidance factors, resulting in abnormal cortical formation. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - June 11, 2021 Category: Perinatology & Neonatology Source Type: research

Preserved Blood Spots Aid Antenatal Diagnosis of Citrullinemia Type-1
AbstractInborn errors of metabolism are an important cause of non-communicable under-five childhood mortality. Lack of confirmatory ‘genomic’ results in the deceased index case due to unavailability of post-mortem biological samples, can pose challenges in reproductive counseling of the parents in future pregnancies. Our case describes a couple seeking preconception genetic counseling after they lost their previous child to biochemically diagnosed Citrullinemia type-1. We confirmed the genomic diagnosis of Citrullinemia type-1 through the post-mortem genetic analysis of the DNA retrieved from the preserved bloo...
Source: Journal of Fetal Medicine - June 3, 2021 Category: Perinatology & Neonatology Source Type: research

Fetal Safety During Fetoscopic Spina-Bifida Repair: Anesthetic Concerns
AbstractPrenatal repair of fetal spina-bifida in the 2nd trimester has been shown to improve neurological function after delivery of the baby. Surgery can be performed with partial delivery of the fetus through a uterine incision, or increasingly via fetoscopy. Trocars to allow surgical instrumentation are introduced either via the exteriorized uterus or percutaneously. Both approaches require maternal anesthesia, an immobile anesthetized fetus and a non-contracting uterus. This can be achieved with administration of a general anesthetic to the mother, transplacental anesthesia of the fetus and tocolytic agents as required...
Source: Journal of Fetal Medicine - June 1, 2021 Category: Perinatology & Neonatology Source Type: research

Echogenic Fetal Heart Without Conduction Defect in Maternal Autoimmune Disease: A Lesser Known Association
AbstractPositive anti-Ro/SSA and anti-La/SSB antibodies in pregnant mothers are strongly associated with fetal congenital heart block  (CHB). Increased echogenicity of fetal endo-myocardium is one of the lesser known manifestations of maternal autoimmune disease. In this retrospective analysis of data from the last ten years (2010–2019) at our fetal medicine unit, we identified nine fetuses presenting in the second trimester with isolated increased echogenicity of the endo-myocardium without CHB. In three cases, mothers had a pre-existing autoimmune disease. The others were diagnosed with pos...
Source: Journal of Fetal Medicine - May 24, 2021 Category: Perinatology & Neonatology Source Type: research

‘Pseudo-septum’ Appearance in Septal Agenesis on Fetal MRI
Conclusion It is important to study the axial and coronal sections of the fetal brain for accurate diagnosis of septal agenesis. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - May 24, 2021 Category: Perinatology & Neonatology Source Type: research

A Solitary Fetal Cardiac Rhabdomyoma: A Hemodynamically Unstable Left Ventricular Tumor with Autopsy and Histopathology Findings
We report a rare solitary large left ventricular tumor, rhabdomyoma with pericardial effusion, causing unstable hemodynamics and thre atening intrauterine life with impending nonimmune hydrops. This was confirmed and further described with autopsy and histopathology findings. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - May 20, 2021 Category: Perinatology & Neonatology Source Type: research

Determining the Uncertainty of Fetal Urine Production Rate Estimations
AbstractThe fetal urinary bladder can be observed by ultrasound and the increasing bladder volume during a filling phase is assumed to reveal the urine production. Volumes, estimated at different time points within the filling phase, allow the hourly fetal urine production rate (HFUPR) to be estimated. HFUPR estimations may add to the knowledge of fetal reactions during obstetrical complications. However, it is essential to know the degree of measurement uncertainty. Otherwise, small deviations may be overrated when repeating HFUPR estimations. The purpose of the current paper was to introduce an interactive program for ca...
Source: Journal of Fetal Medicine - May 18, 2021 Category: Perinatology & Neonatology Source Type: research

Rare Association of Fetal Chondrodysplasia Punctata in Maternal SLE: A Case Report
We present a case of fetal CDP detected on prenatal ultrasound in a mother with maternal systemic lupus erythematosus (SLE). Karyotype, postnatal X-ray and genetic mutation analysis were done to confirm the etiology. The purpose of this study was to increase the clinician’s awareness of the association of CDP with maternal SLE in cases with negative reports for genetic mutation analysis, chromosoma l abnormality and in the absence of any history of teratogenic drug intake or maternal infection. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - April 2, 2021 Category: Perinatology & Neonatology Source Type: research

Prenatal Diagnosis of Radial Ray Defect Associated with Fanconi Anemia: a Case Report
We describe a fetus with radial ray defect in a primigravida. Cytogenetic testing for breakages confirmed Fanconi anemia as the etiology. Molecular testing by next generation sequencing did not reveal a point change in any of the twenty-one genes known to be associated with FA. A confirmed fetal autopsy phenotype and the cytogenetic report allowed for the identification of a homozygous deletion of exon 4 –6 in the FANCC gene on re-analysis of the molecular dataset. This case exemplifies the utility of a step wise approach to the diagnosis of prenatally diagnosed radial ray defects and the importance of genetic counse...
Source: Journal of Fetal Medicine - March 12, 2021 Category: Perinatology & Neonatology Source Type: research

Retinae of Anencephalic Fetuses: Quantitative Analysis and Comparison with Fetuses Without any Malformations
AbstractAnencephaly is a  common congenital malformation characterised by absence of a major portion of the brain. The sequence of brain degeneration starts around 20 days post fertilization which overlaps with the appearance of optic grooves from the forebrain. A number of ocular malformations associated with anencepha ly have been reported. Based on the assumption that eyes, which are derived from the brain, are likely to be abnormal since the organ of origin undergoes degeneration, studies have been carried out on anencephalic retinae. Some of the results have indicated that retinae of anen...
Source: Journal of Fetal Medicine - March 11, 2021 Category: Perinatology & Neonatology Source Type: research

Sirenomelia: Can it be Missed in the First Trimester? A Case Series of A Rare Condition
We present a case series (n = 5) diagnosed by ultrasound at our center between January 2014–2020. Through this brief article, we aim to give a key to the antenatal diagnosis of this rare anomaly, an aid on how not to miss it and its subsequent management. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - March 6, 2021 Category: Perinatology & Neonatology Source Type: research

Normative Values of Mid Trimester Cervical Consistency Index in Women Delivering at Term
AbstractAims and ObjectiveCervical Consistency Index (CCI) is a new technique to measure the consistency of Cervix (softening) and is expected to show changes before cervical shortening.  The aim of this study was 1. To find out the normative values of mid-trimester Cervical Consistency Index in women delivering at term. 2. To compare the discriminative ability of cervical consistency index with cervical length for prediction of spontaneous preterm birth.MethodA total of 144 antenatal patients undergoing mid-trimester anomaly scan were subjected to transvaginal cervical length measurement as per Fetal Medicine Foundat...
Source: Journal of Fetal Medicine - March 6, 2021 Category: Perinatology & Neonatology Source Type: research

Massive Perivillous Fibrinoid Degeneration of Placenta/ Maternal Floor Infarct: A Case Report
We present a case report of “placental massive perivillous fibrinoid degeneration/maternal floor infarction (MPFD)” with very large avascular placenta. Th is can lead to fetal growth restriction (FGR) and other complications for the fetus. It is also known to be associated with antiphospholipid syndrome. Management with low dose aspirin and low molecular weight heparin achieves good results. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - March 6, 2021 Category: Perinatology & Neonatology Source Type: research

Prenatal Diagnosis of Fetal Immature Oropharyngeal Teratoma in the First Trimester: A Case Report
We report a case of fetal immature orofacial teratoma detected in the first trimester and confirmed with histopathological diagnosis. The index pregnancy presented at 13 1/7 weeks of gestation. Ultrasound examination demonstrated an irregular, m ixed echogenic mass with solid and cystic components protruding from the fetal mouth, between the tongue and the palate. Following extensive counselling, the couple opted for termination of the pregnancy. Histopathological examination confirmed the tumor to be an immature oral teratoma. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - March 6, 2021 Category: Perinatology & Neonatology Source Type: research

Prenatal Ultrasonographic Molar Tooth Sign: Case Reports and Review of Literature
We report two cases in which MTS was identified on prenatal ultrasound at 22 and 21 weeks (wk) of gestational age respectively. The other prenatal findings on ultrasound included polydactyly and anteropo steriorly enlarged 4th ventricle and vermian hypoplasia in both, and, aortic stenosis evolving to hypoplastic left heart in the former. Prenatal MRI was not done. Amniocentesis was done in the one with associated cardiac anomaly which was reported as normal. In both cases, the couple opted for term ination of pregnancy and declined fetal autopsy and further mutation analysis. Only a few cases of JSRD diagnos...
Source: Journal of Fetal Medicine - February 17, 2021 Category: Perinatology & Neonatology Source Type: research

Management of Isolated Fetal Lymphangiomas Following Prenatal Diagnosis: Case Series
We report three cases of isolated fetal cystic hygromas diagnosed prenatally at various gestations. Two were of moderate size over the anterolateral aspect of the neck and one case had a huge lymphangioma involving the entire right side of the chest wall. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - February 15, 2021 Category: Perinatology & Neonatology Source Type: research

‘TRAP-ped with an Acardius’: Case Series of Twin Reversed Arterial Perfusion (TRAP) Sequence and Review of Literature
We report four cases of TRAP sequence treated in our institutions and supply an overview on currently existing literature. This case series demonstrates the heterogeneity in manifestations and clinical course of patients affected by this condition. Furthermore, it includes an acardius amorphous of considerable size delivered at 35.6  weeks of gestation. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - February 8, 2021 Category: Perinatology & Neonatology Source Type: research

Clinical Profile of Women with Congenital Fetal Malformations: A Retrospective Cohort Study
ConclusionThe most common anomalies were CNS and majority were primigravidae. The most common medical disorder associated was diabetes. It is possible that they are deficient in folic acid and vitamin B12. Hence pre-conceptional control of medical disorders, nutritional counselling regarding intake of micronutrients and awareness programmes to take pre-conceptional folic acid and vitamin B12 are the need of the hour for prevention. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - January 20, 2021 Category: Perinatology & Neonatology Source Type: research

Prenatal Diagnosis of Agnathia/Otocephaly: Associations and Outcomes-Large Case Series and Review of Literature
We present 26 cases of prenatally diagnosed agnathia/otocephaly, the largest published series so far, with a broad review of available literature and updated concepts on the etiopathogenesis. This is a retrospective case series identified between May 2000 and April 2018 in a tertiary fetal medicine centre in South India where we evaluated the ultrasound features of agnathia/ otocephaly and assessed the associated anomalies and syndromes. Out of 26 cases identified, 42% were isolated and 58% were associated with other anomalies. The most common associations were skeletal (7) followed by central nervous system anomalies (4) ...
Source: Journal of Fetal Medicine - January 19, 2021 Category: Perinatology & Neonatology Source Type: research

Prenatal Sonographic and MRI Assessment of Early Fetal Neck Immature Teratoma
We report a case of a pregnancy involving a  fetal neck mass which was diagnosed at 19 weeks of gestation. Three dimensional ultrasound provided detailed additional information about the extent of the lesion and the areas of involvement. Color Doppler revealed intense vascularity within the lesion, with both arterial and venous flow. Fetal MRI revealed the exact extent of the lesion along with deep seated structures involved. Diffusion weighted images revealed restricted diffusion with low ADC values suggesting a mitotic etiology. The patient along with her husband decided to abort the fetus. An infantogram of th...
Source: Journal of Fetal Medicine - January 11, 2021 Category: Perinatology & Neonatology Source Type: research

Retrograde Flow in the  Aortic Isthmus: Trigger to Deliver Growth Restricted Fetuses Between 30 and 34 Weeks of Gestation?
ConclusionRetrograde blood flow in the  AoI is associated with adverse perinatal outcome, particularly intrauterine fetal demise, neonatal death, Respiratory Distress Syndrome (RDS) and increased duration of Neonatal Intensive Care Unit (NICU) stay. Even if DV flow is normal, adverse outcome might be suspected in fetuses with AEDF/RED F in the UA and retrograde flow in the AoI. Consequently, retrograde flow in the AoI might be considered as an additional trigger for delivering FGR fetuses at 30–34 weeks with AREDF in the UA. Larger longitudinal studies are, however, requir...
Source: Journal of Fetal Medicine - January 6, 2021 Category: Perinatology & Neonatology Source Type: research

Interstitial Laser Occlusion of the Systemic Feeding Vessel in a Hybrid Lung Lesion: Technique, Clinical Course, Perinatal Outcome and a Review of Literature
We describe a case of a hybrid CPAM complicated by hydrops which was successfully treated by interstitial laser coagulation of the systemic feeder artery. We also review current literature on the available interventions and conclude that interstitial laser has emerged as the preferred modali ty of treatment over the years. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - January 3, 2021 Category: Perinatology & Neonatology Source Type: research

Prenatal Binder Phenotype: Physician ’s Dilemma-A Case Report
AbstractThe  Binder phenotype is defined by midface hypoplasia, underdeveloped frontal sinuses, hypoplastic and abnormally positioned nasal bones, nostrils appearing moon or comma-shaped and prognathism. It is heterogeneous in etiology and not fully understood. Multiple causative factors are describe d. The physician’s dilemma is of diagnosing the fetal abnormalities on antenatal ultrasound for which there is no confirmatory testing. There are management and ethical problems regarding the diagnosis, further investigations and confirmation of the diagnosis. The Binder phenotype...
Source: Journal of Fetal Medicine - January 3, 2021 Category: Perinatology & Neonatology Source Type: research

Surgical Removal of a Gigantic Retroperitoneal Fetus in Fetu: One Case Report
AbstractFetus in fetu (FIF) is a rare congenital disorder. At present, the mechanism of FIF has not been fully elucidated. Clinically, the most common site of FIF is the abdominal cavity, while other sites have also been reported, such as from the scrotum to the intracranial space. Surgery is the best treatment for FIF. Our case is a 1-month-old girl. The mother ’s ultrasound examination at 36 weeks of gestation revealed that the solid part of the abdominal mass showed strong echoes of the limbs, and the fetus was about 40 mm long. The diagnosis was a parasitic fetus in the fetus. The child was admitted to ...
Source: Journal of Fetal Medicine - January 2, 2021 Category: Perinatology & Neonatology Source Type: research

Size and Volume Charts for Fetal Adrenal Gland: A Prospective Study in Indian Population
AbstractThe  fetal adrenal gland plays a pivotal role in perinatal survival. Because imaging the fetal adrenal gland is not part of routine antenatal ultrasonography (US), there is a paucity of available data about imaging techniques. The purpose of this study was to construct gestational age-wise data for f etal adrenal gland size and volume (2D US measurements) for 20, 21, 22 and 32 weeks of gestation and define a technique to measure the gland ultrasonographically. One year prospective study, at a single centre. 87 consecutive pregnant women with uncomplicated singleton pregnancy were inclu...
Source: Journal of Fetal Medicine - January 2, 2021 Category: Perinatology & Neonatology Source Type: research

Prenatal Diagnosis of Absent Right Superior Vena Cava in Referrals for Fetal Echocardiography
We present 14 patients with a prenatal diagnosis of single LSVC and situs solitus, including prenatal findings and information on medium-term follow-up. We identified patients with situs solitus and a persistent LSVC born between March 2004 and March 2020, which had been diagnosed prenatally between December 2003 and November 2019. From this cohort, we identified those with absent RSVC. In the population of women undergoing fetal echocardiography, the prevalence of persistent LSVC in situs solitus was 0.43% (84/19,712). For the 84 identified patients and for the entire population respectively, 14/84 (17%) and 14/19,712 (0....
Source: Journal of Fetal Medicine - January 1, 2021 Category: Perinatology & Neonatology Source Type: research

Antenatal Diagnosis of Filar Cysts: An Ultrasound Study of 2 Cases
We report 2 cases of cysts of filum terminale (filar cysts) diagnosed antenatally in the second trimester (19 weeks and 22 weeks of gestation respectively). (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - December 29, 2020 Category: Perinatology & Neonatology Source Type: research

Prenatal Diagnosis of Bardet-Biedl Syndrome: A Case Study and Review of Literature
We present a case of Bardet-Biedl syndrome diagnosed prenatally at 18 weeks gestation based on prenatal ultrasound findings of post axial polydactyly with bilateral hyperechogenic kidneys. Clinica l suspicion based on ultrasound findings was supplemented amniocentesis and clinical exome sequencing. This showed a  pathogenic variant in homozygous state in theMKKS gene, consistent with Bardet-Biedl syndrome type 6. Unless BBS has been suspected antenatally, diagnosis of BBS is usually made in late childhood or early adulthood adding to the psychological, emotional and financial burden on the family. With advances i...
Source: Journal of Fetal Medicine - December 28, 2020 Category: Perinatology & Neonatology Source Type: research

Anticancer Agent Gefitinib and Congenital Anomalies
We report the  first case of multiple anomalies associated with antenatal exposure to the anticancer agent Gefitinib. The patient conceived while she was on tablet Gefitinib 250 mg once a day for stage IV adenocarcinoma of lungs. The first scan done at 29 weeks 2 days showed liquor amnii on the upper limit of normal, single umbilical artery, left sided congenital diaphragmatic hernia, ventriculoseptal defect and left radial ray defect. The patient had a preterm delivery after one week and she refused autopsy. It is important to advise patients regarding contraception while undergoing chem...
Source: Journal of Fetal Medicine - December 28, 2020 Category: Perinatology & Neonatology Source Type: research

Ultrasound Guided Intrasac Methotrexate Instillation for Live Cesarean Scar Ectopic Pregnancy
AbstractA 38-year-old G5P2 with previous 2LSCS, 2D&Cs and hysteroscopic myomectomy presented with a live Cesarean scar ectopic of 7  weeks gestation. Transabdominal ultrasound-guided intrasac potassium chloride and methotrexate instillation was performed under local anesthesia leading to a successful resolution of the ectopic pregnancy. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - December 5, 2020 Category: Perinatology & Neonatology Source Type: research

Unusual Combination of Anomalous Connection of the Left Pulmonary Veins and Aortic Arch Anomaly Presenting as Abnormal Three Vessel View in the 2nd Trimester US Scan
AbstractPartial anomalous pulmonary venous drainage is often missed antenatally unless a complex congenital heart defect is associated. Likewise, isolated fetal coarctation of aorta has only a  60–70% chance to be diagnosed in the second trimester. The combination of these two conditions (PAPVC and COA), in the absence of situs abnormality or syndromic association is rare and not much reported in the literature. We are reporting a fetal heart which presented with apparent hypoplasia o f the left ventricle and ascending aorta, as well as significant dilatation of the right atrium, right ventricle and pu...
Source: Journal of Fetal Medicine - November 27, 2020 Category: Perinatology & Neonatology Source Type: research

Diagnostic Value of Ultrasonography and MR in Antenatal Diagnosis of Placenta Accreta Spectrum
AbstractThe aim of this study was to compare the accuracy of ultrasonography and magnetic resonance imaging (MR)  in the antenatal diagnosis of placenta accreta. We also determined the most relevant sonographic and MR features associated with the diagnosis of placenta accreta. In a prospective observational study approved by the Ethical Board of the Radiology Department, 109 pregnant women who were at high ri sk for Placenta Accreta were enrolled. The placentas of all cases were scanned using both gray-scale and color Doppler transabdominal sonography. MR was performed when sonographic findings were equivocal &nb...
Source: Journal of Fetal Medicine - November 19, 2020 Category: Perinatology & Neonatology Source Type: research

Cyst of the Filum Terminale: Potpourri of 3 Prenatally Diagnosed Cases
We report three cases of a FT cyst diagnosed prenatally. The objective of reporting these is to make clinicians aware of the importance of the relevance of this clinical entity. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - November 19, 2020 Category: Perinatology & Neonatology Source Type: research

Chorioangioma: A Case Report
We report a case of large Chorioangioma managed conservatively. Early diagnosis was made, patient counseling followed by close surveillance with Doppler, MCA PSV was done for fetal wellbeing. The timely intervention led to good neonatal and maternal outcome aided with NICU management. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - October 31, 2020 Category: Perinatology & Neonatology Source Type: research

Unusual Presentations of Trisomy 21
We present 2 cases which had abnormalities which are very rarely associated with Down ’s syndrome. In the first case, the patient had bilateral congenital cataract along with an absent nasal bone. In the second case, the patient had severe asymmetric fetal growth restriction at 20 weeks with other multi-system abnormalities. With detailed ultrasound scanning and thorough investi gation, we could diagnose trisomy 21 even with such unusual presentations. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - October 5, 2020 Category: Perinatology & Neonatology Source Type: research

Hyperechogenic Fetal Kidneys: Uncertain Diagnosis and Unpredictable Future?
AbstractGlomerulocystic kidney with increased renal echogenicity encompasses a number of renal abnormalities that might have cystic glomeruli and be a sequelae of  renal obstruction. Increased echogenicity of the kidneys is a non-specific finding and a result of varied etiologies. Multiple microscopic cortical and medullary cysts, interstitial fibrosis and mesangial sclerosis are the etiopathogenesis for renal hyperechogenicity even in the absence of macrocy sts. The crucial point is poor predictability of antenatal ultrasound to fully define the extent and severity of parenchymal damage and to forecast its outco...
Source: Journal of Fetal Medicine - September 17, 2020 Category: Perinatology & Neonatology Source Type: research

A Novel Co-occurrence of VACTERL and Closed Neural Tube Defect
We present a case with 4 components of the association—single umbilical artery, an orectal malformation, unilateral renal agenesis and limb abnormalities. There was also a closed neural tube defect-lipomyelomeningocele with tethered cord. The presence of a neural tube defect with VACTERL makes  this a unique case since the reported vertebral anomalies in VACTERL are non dysra phic. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - September 15, 2020 Category: Perinatology & Neonatology Source Type: research

Prenatal Diagnosis of Right Sided Inguinoscrotal Hernia Associated with Severe Growth Restriction in a Fetus with Trisomy 18: A Case Report
We present a case of prenatal diagnosis of right sided fetal inguinoscrotal hernia, with contralateral hydrocele and severe fetal growth restriction confirmed as Trisomy 18 in subsequently performed chromosomal analysis. The index case presented at 35+2 weeks of gestation with a right sided solid scrotal mass with a  regular contour, mixed echogenic texture with a few echo-free areas, a distinctive arterial supply and characteristic peristaltic movements. Fetal demise was noted  one week later. The diagnosis was confirmed by postnatal examination. Prenatal diagnosis of fetal inguinoscrota...
Source: Journal of Fetal Medicine - September 11, 2020 Category: Perinatology & Neonatology Source Type: research

Diagnosis and Management of Fetal Ductus Arteriosus Constriction
We present a series of ductus arteriosus constriction, of which 3 cases were associated with tricuspid regurgitation, 1 case with right sided dominance of the heart and 1 case with moderate to severe right ventricular hypertrophy. Mild cases require close fetal monitoring and severe cases may need urgent delivery. Postnatal prognosis seems to be good in cases of ductal constriction associated with right heart abnormalities as right heart abnormalities resolve in a couple of weeks, although pulmonary hypertension and right ventricular failure are major concerns. P reventive measures include avoiding...
Source: Journal of Fetal Medicine - September 1, 2020 Category: Perinatology & Neonatology Source Type: research