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Prenatal Ultrasonography (prenatal + ultrasonography)

Distribution by Scientific Domains

Medical Sciences	28%

Selected Abstracts

Prenatal diagnosis of jumping translocation involving chromosome 22 with ultrasonographic findings

PRENATAL DIAGNOSIS, Issue 11 2005
Halil Aslan
Abstract We report on the prenatal diagnosis and ultrasonographic findings of a second-trimester fetus with jumping translocation involving chromosome 22. A 28-year-old gravida 2, partus 1, Turkish woman was referred for genetic counselling and ultrasonographic examination at 18 weeks' gestation because of a high risk of trisomy 21 in triple test. Prenatal ultrasonography showed tetralogy of Fallot with a diverticular dilatation of the pulmonary artery, flattened brow, complete absence of the right upper limb, hypospadias, oligodactyly (three digits) in left hand and in both feet, and hyperechogenic abdominal foci. Amniocentesis revealed a karyotype of 46,XY[4]/46,XY,,8,+ der(8),t(8;22)(q24.3;q11.21)[2]/45, XY,,22,,8,+ der(8)t(8;22)(q24.3;q11.21)[22]/45,XY,,22,,5,+ der(5)t(5;22)(q35.3;q11.21)[44]. A C-banding and FISH study with a specific centromeric probe (D14Z1/D22Z1) for chromosome 22 was made. In our case, partial monosomy for the regions 22q11.21,22pter, 8q24.3,8qter and 5q35.3,5qter may partially explain the fetal malformations. Copyright © 2005 John Wiley & Sons, Ltd. [source]

Assessment of gestational age and neuromaturation

DEVELOPMENTAL DISABILITIES RESEARCH REVIEW, Issue 1 2005
Marilee C. Allen
Abstract Neuromaturation is the functional development of the central nervous system (CNS). It is by its very nature a dynamic process, a continuous interaction between the genome and first the intrauterine environment, then the extrauterine environment. Understanding neuromaturation and being able to measure it is fundamental to infant neurodevelopmental assessment. Fetal and preterm neuromaturation has become easier to observe with the advent of prenatal ultrasonography and neonatal intensive care units. A number of measures of degree of fetal maturation have been developed and used to estimate gestational age (GA) at birth. The most reliable measures of GA are prenatal measures, especially from the first trimester. Postnatal GA measurements tend to be least accurate at the extremes of gestation, that is, in extremely preterm and post-term infants. Observations of measures of neuromaturation in infants born to mothers with pregnancy complications, including intrauterine growth restriction, multiple gestation, and chronic hypertension, have led to the discovery that stressed pregnancies may accelerate fetal pulmonary and CNS maturation. This acceleration of neuromaturation does not occur before 30 weeks' gestation and has a cost with respect to cognitive limitations manifested in childhood. The ability to measure fetal and preterm neuromaturation provides an assessment of neurodevelopmental progress that can be used to reassure parents or identify at risk infants who would benefit from limited comprehensive follow-up and early intervention services. In addition, measures of neuromaturation have the potential to provide insight into mechanisms of CNS injury and recovery, much-needed early feedback in intervention or treatment trials and a measure of early CNS function for research into the relationships between CNS structure and function. © 2005 Wiley-Liss, Inc. MRDD Research Reviews 2005;11:21,33. [source]

Histological study of fetal kidney with urethral obstruction and vesicoureteral reflux: A consideration on the etiology of congenital reflux nephropathy

INTERNATIONAL JOURNAL OF UROLOGY, Issue 10 2003
KENJI SHIMADA
Purpose: A recent subject of interest regarding reflux nephropathy is the presence of renal abnormalities in neonates and infants who have no history of urinary tract infections. Debates have centered on the etiology of this renal abnormality , congenital reflux nephropathy; regarding whether it is the result of abnormal ureteral budding or of back pressure effect from sterile reflux. We examined the renal pathology of fetuses with urethral obstruction and vesicoureteral reflux, and we suggest herein a possible etiology of congenital reflux nephropathy. Methods: The renal pathology of seven autopsied fetuses with vesicoureteral reflux was studied. Reflux was demonstrated at autopsy by slow injection of contrast medium into the bladder. Severe urethral obstruction, either atresia or urethral valves, was evident in six of the subjects. Results: In six subjects, abnormality of the urinary tracts was detected by prenatal ultrasonography. Of these six subjects, three revealed characteristics of prune belly syndrome. Reflux was graded as moderate in five subjects, and severe in two. In three subjects autopsied at 21 weeks gestation or earlier, the kidneys were well-developed with normal corticomedullary configuration, and nephrogenesis was retained. In three cases autopsied at over 25 weeks of gestation, the kidneys were grossly cystic, and the nephrogenic zone was completely absent. Contrast medium was observed not only in the dilated ducts and tubules, but also in the subcapsular cysts. Extravasation of the contrast medium was seen in the peritubular space. In the last subject with normal lower urinary tract, abnormal segments among normal cortical structures were observed. Conclusion: Our findings of renal pathology in fetuses with reflux are quite similar to those seen in fetal hydronephrosis. Back pressure from reflux probably damages the developing kidney leading to a degeneration of the ampullae and a reduction in the number of nephrons. Both dilatation of the collecting ducts and tubules, and extravasation of the urine may result in interstitial fibrosis. We postulate that one of the important etiologies of congenital reflux nephropathy may be the result of back pressure from sterile reflux. [source]

Congenital dilatation of the bile duct: Changes in diagnostic tools over the past 19 years

PEDIATRICS INTERNATIONAL, Issue 4 2003
Junji Takaya
Abstract Background:,Because of recent improvements in diagnostic procedures, many cases of congenital dilatation of the bile duct (CDBD) have been diagnosed in early life. To determine the mode of presentation and changes in diagnostic tools, medical records of 34 children (25 girls, nine boys) with CDBD who were treated between 1982 and 2000 were reviewed. Results:,The age at presentation ranged from 0 to 16 years (median 4.9 ± 0.7 years), with two patients being diagnosed using prenatal ultrasonography. Of the 32 patients diagnosed post-natally, 21 (66%) complained of abdominal pain. There were also 21 (66%) cases of vomiting. Sixteen patients (50%) experienced both these symptoms. Ten (31%) cases presented with jaundice and three (9%) presented with a palpable mass. Ultrasonography was used as a diagnostic tool in 29 cases (85%). The finding of a dilated common bile duct on abdominal ultrasonography was helpful for early diagnosis. Spiral computed tomography was also a useful and accurate imaging method for diagnosis. Anomalous pancreaticobiliary junction (PBJ) was demonstrated in 44% of patients with CDBD. Magnetic resonance cholangiopancreatography, which can be performed non-invasively, is useful for the diagnosis and pre-operative assessment of CDBD in children. The average length of time from presentation to diagnosis could be shortened from 46 days (1982,1988) to 13 days (1995,2000). Conclusion:,Recent improvements in diagnostic procedures make immediate, non-invasive diagnosis of CDBD and PBJ possible. [source]

Parental attitude to participating in long-term follow-up studies of their children's health after in utero diagnosis of abnormalities

PRENATAL DIAGNOSIS, Issue 3 2009
Lauren Ramsay
Abstract Objective To determine whether parents might be distressed if approached to take part in long-term follow-up of their children's health and development. Methods A short, closed format anonymous questionnaire seeking parental opinion on being asked about their child's health was offered to attendees for obstetric ultrasound and parents of children attending paediatric cardiology clinics. Results In total, 70% of the 266 respondents were attending for ultrasound and ,30% paediatric cardiology clinics. In total, 66 respondents had children with long-term health problems, 28 with learning difficulties and 61 had previously had an abnormal obstetric ultrasound scan. Greater than 90% of parents were happy to be contacted and asked questions about their children's health and development, regardless of their child's health or their experiences during prenatal ultrasonography. Conclusions Our results provide reassurance to future researchers and ethics committees that studies of children's later health after in utero diagnosis of anomalies are unlikely to prove unacceptable to many parents. Copyright © 2009 John Wiley & Sons, Ltd. [source]

Prenatal diagnosis of tetrasomy 9p with Dandy,Walker malformation

PRENATAL DIAGNOSIS, Issue 8 2004
Markus Hengstschläger
Abstract Objectives To add to the knowledge of chromosomal abnormalities associated with Dandy,Walker malformation. Methods Molecular cytogenetic analyses of a chorionic villus sampling and of an amniocentesis of a fetus with Dandy,Walker malformation and abnormal somatic development. Results All cells examined showed a 47, XY, +idic(9p)(pter,q12::q12,pter) de novo karyotype. This report describes the fourth case of a tetrasomy 9p associated with Dandy,Walker malformation Conclusions This case, together with the three previously reported cases of an association with a tetrasomy 9p, indicate that this chromosomal aberration should be looked for when Dandy,Walker malformation is detected via prenatal ultrasonography. Copyright © 2004 John Wiley & Sons, Ltd. [source]

Perinatal imaging findings of inherited Sotos syndrome

PRENATAL DIAGNOSIS, Issue 10 2002
Chih-Ping Chen
Abstract Objectives Although most cases of Sotos syndrome are sporadic, familial cases have been described. In familial cases, the most likely mode of inheritance is autosomal dominant with variable expressivity. We present the perinatal imaging findings of an inherited case. Case This was the second pregnancy of a 32-year-old woman with Sotos syndrome. She had given birth to her first child with macrocephaly, ventriculomegaly, macrocisterna magna and neonatal death at 28 weeks' gestation. During this pregnancy, prenatal ultrasonography at 18 weeks' gestation showed only mild dilatation of lateral ventricles. The pregnancy was uneventful until 31 weeks' gestation when fetal macrocephaly, right hydronephrosis, and polyhydramnios began to develop. At 33 weeks' gestation, dilatation of the third ventricle and fetal overgrowth were obvious. At 34 weeks' gestation, macrodolichocephaly, hypoplasia of the corpus callosum, enlargement of the lateral ventricles with prominent occipital horns, and macrocisterna magna were noted. At 36 weeks' gestation, a male baby was delivered with macrodolichocephaly, frontal bossing and a facial gestalt of Sotos syndrome. Birth weight was 3822 g, length 55 cm, and occipitofrontal head circumference 41 cm (all > 97th centile). The magnetic resonance imaging (MRI) scans demonstrated enlargement of the lateral ventricles, the trigones, and the occipital horns, hypoplasia of the corpus callosum, a persistent cavum septum pellucidum and cavum vergae, and macrocisterna magna. Conclusions Fetuses at risk for Sotos syndrome may present abnormal sonographic findings of the brain and the skull in association with overgrowth, unilateral hydronephrosis and polyhydramnios in the third trimester. Perinatal MRI studies aid in confirmation of the diagnosis. Copyright © 2002 John Wiley & Sons, Ltd. [source]