Fetal Intra-abdominal Cyst: An Unusual Presentation
AbstractA 26-year-old woman with spontaneous conception had “low risk” result in first-trimester screening. At the time of anomaly scan a large intra-abdominal cyst was seen in the fetus. However, the exact origin of the cyst could not be confirmed. Serial monitoring of the cyst was done by ultrasound scan and the size of the cyst remained stable through out the pregnancy. The mother had a cesarean section at 36 weeks for obstetric reason. Investigations on the newborn suggested choledochal cyst but the laparotomy revealed dilated duodenum with multiple atretic bowel loops. Ladd’s procedure was performed but the bab...
Source: Journal of Fetal Medicine - February 26, 2017 Category: Perinatology & Neonatology Source Type: research
Transcerebellar Diameter/Abdominal Circumference Ratio in Normal and Asymmetric Growth Restricted Fetuses: A Cross-sectional Analysis in a Tertiary Care Hospital
Abstract Assessment of correct gestational age (GA) is vital in the management and prognosis of any pregnancy. The cerebellar size tends to remain unaffected or minimally affected in mild and moderate growth restriction Measurement of fetal transcerebellar diameter is a marker for estimation of GA. In government tertiary care centers, there are a lot of patients who would visit for the first ultrasound in the third trimester wherein there is a wide variation in calculation of GA as per ultrasound parameters. So to assess correct GA and diagnose asymmetric intrauterine growth restriction (IUGR), TCD/AC ratio can be included...
Source: Journal of Fetal Medicine - February 26, 2017 Category: Perinatology & Neonatology Source Type: research
ACMG 2016 Update on Noninvasive Prenatal Testing for Fetal Aneuploidy: Implications for India
AbstractACMG 2016 guidelines for noninvasive prenatal screening (NIPS) are examined in the Indian context, and recommendation made for their adoption. Currently in India, NIPS is not a test that can or should be offered directly to patients. Proper pre-test counseling is essential, during which, the different options should be explained so that the patients can choose the test most appropriate for their situation. NIPS has a greater detection rate than other screening methods (like biochemical screening or ultrasound markers of aneuploidy), and can be performed in place of conventional screening for Patau, Edwards, and Dow...
Source: Journal of Fetal Medicine - February 5, 2017 Category: Perinatology & Neonatology Source Type: research
The 3-Sweep Approach: A Standardized Technique for Fetal Anatomic Assessment in the Limited Resource Setting
AbstractThis retrospective study aims to describe a standardized screening technique “the 3-sweep approach” for fetal anatomic assessment in the outreach setting. The study was carried out on 1396 pregnant women referred for an obstetric ultrasound for pregnancy dating and detection of abnormalities in a limited resource setting in Lebanon. All pregnancies were scanned utilizin g a previously described standardized 6-step approach and the 3-sweep approach for fetal anatomic assessment. The first sweep examines the fetal head and face, the second examines the spine, and the third examines the chest, abdomen, and pelvis...
Source: Journal of Fetal Medicine - February 1, 2017 Category: Perinatology & Neonatology Source Type: research
Beyond Open Neural Tube Defects: Sagittal Landmarks at 11 –14 Weeks in the Prediction of Second Trimester Posterior Fossa Abnormalities
ConclusionAbnormal posterior fossa landmarks at the 11 –14 weeks’ examination is associated with threefold risk of posterior fossa malformation. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - January 30, 2017 Category: Perinatology & Neonatology Source Type: research
Routine First Trimester Screening for Maternal Thyroid Disease
AbstractThe aim was to assess the proportion of women requiring a referral to an endocrinologist when carrying out routine screening for maternal thyroid disease simultaneously with screening for Down syndrome. Between November 2009 and September 2015, women having a first trimester combined test were screened; those symptomatic or being investigated for thyroid problems were excluded. In the first half of the period the blood sample was tested for anti-thyroid peroxidase (TPO) antibodies, serum thyroid stimulating hormone (TSH), and free thyroxine (fT4); thereafter fT4 was not used. Women with at least one analyte outside...
Source: Journal of Fetal Medicine - January 19, 2017 Category: Perinatology & Neonatology Source Type: research
Prenatal Diagnosis of Rhombencephalosynapsis
AbstractRhombencephalosynapsis (RS) is a rare and sporadic cerebellar malformation characterized by agenesis of cerebellar vermis, fusion of the cerebellar hemispheres, dentate nuclei, and superior cerebellar peduncles. In majority of cases, RS is associated with wide range of cerebral malformations (dysgenesis or agensis of corpus callosum (ACC) and anterior commissurae, fusion of the inferior colliculi, cerebral peduncles, or thalami and hydrocephalus). A third gravida with 32 weeks of pregnancy was evaluated for hydrocephalus. The fetus had teardrop lateral ventricles, colpocephaly, upward displacement of third ventri...
Source: Journal of Fetal Medicine - December 22, 2016 Category: Perinatology & Neonatology Source Type: research
Diagnosis of Tetra-amelia in the First Trimester
We report a case showing absence of all the four limbs with associated absence of the mandible in a 25-year-old primigravida diagnosed in the first trimester at 13 weeks of gestation. Since tetra-amelia due to genetic inheritance was suspected, the family was offered the option of karyotype analysis and genetic consultation. However, the couple based on the poor prognosis opt ed for the termination of pregnancy. The autopsy findings confirmed the diagnosis based on the morphological examination of the abortus. No genetic analysis was undertaken. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - December 6, 2016 Category: Perinatology & Neonatology Source Type: research
The Significance of Test Failures in Noninvasive Prenatal Screening for Fetal Aneuploidy Using Cell-free DNA
In this study, modeling was used to assess the impact of a low fetal fraction (FF) in NIPS when (a) FF is not measured; (b) low FF cases receive invasive testing; (c) low FF cases receive the combined test; (d) low FF cases receive the quadruple test. Modeling was based on expected performance of NIPS, invasive testing, and conventional screening. NIPS failure rates of 0 –6% due to low FF were considered under the assumption that aneuploidy rates were the same in successful and unsuccessful cases. In a secondary analysis, the effect of higher rates of aneuploidy in failed cases was assessed. Failure to measure FF can res...
Source: Journal of Fetal Medicine - November 29, 2016 Category: Perinatology & Neonatology Source Type: research
Clinical Significance of Conventional Karyotype and QF-PCR in Detection of Fetal Chromosomal Abnormalities
This study aims to compare the advantages of two widely used methods for fetal chromosomal detection, karyotyping and QF-PCR, together with the indications for invasive prenatal diagnosis. We retrospectively investigated 888 amniocenteses analyzed by karyotyping only or karyotyping combined with QF-PCR. We assessed the results of each method and compared them to the indications for prenatal testing including maternal age, fetal ultrasound findings, and serum screening. We found 39 (4.4%) abnormalities, where 59% of those abnormalities were numerical and 41% were structural abnormalities undetectable by QF-PCR methods. Many...
Source: Journal of Fetal Medicine - November 24, 2016 Category: Perinatology & Neonatology Source Type: research
Maternal Urine Screening for Down Syndrome: Past Studies and Future Perspectives
(Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - November 7, 2016 Category: Perinatology & Neonatology Source Type: research
Fetal Germinal Matrix Hemorrhage: Prenatal Diagnosis and Management
We report a case of germinal matrix intraventricular hemorrhage (GMIVH) diagnosed antenatally at 30 weeks of gestation. The pregnancy was continued with close monitoring up to 37 weeks of gestation. A healthy baby was delivered and had normal neurological development after 8 months of postnatal follow-up. GMIVH, though common in premature neonates, is rarely seen in fetal life. Diagnosis is po ssible by prenatal ultrasound usually in the third trimester. Tomographic ultrasound imaging is a useful alternative to fetal MRI in assessing the extent of parenchymal involvement. The findings on imaging studies can elude the c...
Source: Journal of Fetal Medicine - November 3, 2016 Category: Perinatology & Neonatology Source Type: research
First Trimester Sonographic Findings of Caudal Regression Syndrome
We report a case of caudal regression syndrome in a 31-year-old primigravida having type-1 diabetes mellitus for the past eight years who was referred to our institution for a first trimester sonogram. Prenatal ultrasound examination revealed a crown rump length less than the period of amenorrhea with abrupt interruption of the spine beyond the lumbar region. There was complete absence of the sacral vertebrae with a persistent ‘frog-like’ posture of the lower limbs. After extensive counseling, termination of pregnancy was opted for and the autopsy findings confirmed the diagnosis. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - October 27, 2016 Category: Perinatology & Neonatology Source Type: research
Significance of Fetal Aberrant Right Subclavian Artery and Comparison with Other Second Trimester Markers for Down Syndrome Screening
AbstractThe chief objectives of our study were to assess the incidence and significance of fetal aberrant right subclavian artery (ARSA) in a nonreferral cohort of south Indian antenatal woman, and to compare it with other second trimester markers of Down syndrome. This was a prospective study conducted at Edappal hospital, India. After satisfying inclusion and exclusion criteria, 2000 consecutive antenatal women, seeking prenatal care and planning delivery at the same center, were recruited in a consecutive fashion. ARSA was identified as a retrotracheal arterial vessel in the axial three vessel trachea view, coursing tow...
Source: Journal of Fetal Medicine - October 21, 2016 Category: Perinatology & Neonatology Source Type: research
Conjoined Twins: A First-Trimester Diagnosis
(Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - October 17, 2016 Category: Perinatology & Neonatology Source Type: research
