Prenatal diagnosis of congenital gastric outlet obstruction

A case of gastric outlet obstruction diagnosed prenatally at 22 weeks' gestation is described. The differential diagnosis and the clinical management of this rare condition are discussed, and an updated literature review is presented.     

Prenatal ultrasound diagnosis of gastric outlet obstruction due to a pyloric web

Gastrointestinal tract atresia has an incidence of 1 in 10 000 live-births, while gastric outlet obstruction comprises only approximately 1 per cent of these malformations. A prenatally diagnosed case is described, followed by a discussion regarding the diagnosis and possible associated abnormalities.     

Successful outcome following prenatal intervention in a female fetus with bladder outlet obstruction

Bladder outlet obstructions are a diverse and heterogeneous group of developmental abnormalities that generally involve obstruction of the proximal urethra in the male fetus. Indications for prenatal intervention are few and are usually restricted to the male fetus because bladder outlet obstruction in female fetuses is usually caused by complex cloacal development anomalies. We report on a female fetus with an enlarged bladder and a dilated proximal urethra (known as typical keyhole sign). A vesicoamniotic shunt was performed despite non-reassuring prognostic factors, but the procedure resulted in a successful outcome. We propose that in selected cases of bladder outlet obstruction, fetal intervention should be considered even when the fetus is female. Copyright © 2005 John Wiley & Sons, Ltd.     

Successful intrauterine shunting of a sacrococcygeal teratoma (SCT) causing fetal bladder obstruction

We report a case of a sacrococcygeal teratoma (SCT) diagnosed at 22 weeks with a substantial intrapelvic cystic extension leading to bladder outlet obstruction and hydronephrosis at 27 weeks. Prenatal percutaneous shunting of the cystic teratoma was performed at 28 weeks to avoid prolonged fetal pelvic compression by the tumour that could have adverse effects by stretching the pelvic plexus and sacral nerves. Urinary dilatation resolved completely after shunting and a 3880 g baby girl was delivered at 39 weeks. The potential benefits of in utero shunting to avoid urological complications of SCTs with intrapelvic extension are discussed. Copyright © 2001 John Wiley & Sons, Ltd.     

Prenatal diagnosis of acute bladder distension associated with fetal sacrococcygeal teratoma—a case report

A case report of sacrococcygeal teratoma prenatally diagnosed at 23 weeks of amenorrhea, subsequently causing dilatation of both lower and upper urinary tracts is presented. The importance of repeated ultrasonographic evaluation of fetuses with sacrococcygeal teratoma is discussed.     

Prenatal diagnosis of Joubert syndrome: a case report

Joubert syndrome is a rare, autosomal recessive condition, first described by Joubert in 1969. We present a case of Joubert syndrome from a consanguineous family in which, apart from the cerebellar vermis agenesis, ventriculomegaly, bilateral postaxial polydactyly of hands and right foot and micropenis, episodes of fetal breathing pattern with an increased respiratory rate were also demonstrated by prenatal ultrasound scan. At birth the infant showed an odd face and bilateral fleshy nodules of the tongue. He had an abnormal breathing pattern of alternating tachypnea and apnea. Cranial MRI showed molar tooth sign, hydrocephalus and Dandy–Walker malformation. He had nystagmus, and electroretinography showed retinal dystrophy. Copyright © 2002 John Wiley & Sons, Ltd.     

Congenital small bowel obstruction: Prenatal detection and outcome

Objective

To evaluate and compare the outcome of fetuses and neonates with congenital small bowel obstructions (SBO), evaluate the screening performance of prenatal ultrasound for SBO and identify possible risk factors for adverse outcomes.

Methods

All cases referred to the Amsterdam University Medical Centers between 2007 and 2021 for a prenatal suspected SBO, supplemented by cases of postnatal diagnosis of SBO, were included. The primary outcome was survival after 24 weeks of gestation until the first year of life.

Results

147 cases of SBO were included with a survival rate of 86.2% (119/138) after 24 weeks of gestation until the first year of age. Additional structural or chromosomal anomalies were found to have an increased risk of adverse outcomes. Intrauterine fetal demise occurred in 10/147 (6.8%) cases and 9/147 (6.1%) cases died during postnatal follow-up. The overall positive predictive value of all prenatally diagnosed cases was 91.5%. Surgical correction was performed in 123/128 (96.0%) of the live-born cases.

Conclusions

Congenital SBO has an overall favorable prognosis, but the outcome is negatively impacted by the possible presence of additional structural or chromosomal anomalies. Fetal monitoring in the early third trimester should be considered, since all cases of Intrauterine fetal demise occurred between 30 and 35 weeks of gestation.     

Prenatal diagnosis of partial tetrasomy 14: a case study

Prenatal specimens were received from a fetus with abnormalities noted on ultrasound. A supernumerary marker chromosome (SMC) was detected: 47,XY,+mar. Fluorescence in situ hybridisation (FISH) further classified this to be partial tetrasomy for chromosome 14. We compare this finding with other cases of SMC (14) and further classify phenotype with karyotype. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal obstruction of the ileum diagnosed by ultrasound

A case of low atresia of the ileum, diagnosed prenatally by real-time ultrasound scanning, is presented. The ultrasound examination showed progressive distension of intestinal loops, with strong peristaltic movements. The stomach was also distended, presenting as a large cystic area in the upper left abdomen. Real-time ultrasound technique is most advantageous in the diagnosis of fetal ileus. Prenatal diagnosis of fetal intestinal obstruction is of great importance, making early and safe treatment of the newborn possible.     

Prenatal diagnosis of a case of tetrasomy 9p

A male fetus with tetrasomy 9p [47,XY, + i(9p)] is presented. The cytogenetic interpretation of the marker chromosome was confirmed by assessing the activity of the enzyme galactose I-phosphate uridyl transferase. The clinical findings of the case show features in common with previously reported cases.     

Astomia-agnathia-holoprosencephaly association. Prenatal diagnosis of a new case

A case of agnathia-astomia-holoprosencephaly with prenatal ultrasound diagnosis at 23 weeks is reported and discussed. This lethal neurocristopathy, well known in mammalians, is rarely observed in humans. Prenatal diagnosis features are intrauterine growth retardation, mandible absence or major hypoplasia, holoprosencephaly, cyclopia or hypotelorism, and in some instances frontal proboscis. This malformation is usually sporadic, but may be genetically determined as an autosomal recessive trait, since two cases in the same sibship have been reported.     

Prenatal diagnosis and treatment of fetal long QT syndrome: a case report

We report a case of a fetus presenting with bradycardia, intermittent atrioventricular (AV) block, ventricular tachycardia (VT) and the signs of fetal congestive heart failure (ascites and scrotal hydrocele) during mid-gestation. Prenatal treatment with β-adrenergic blocker (propranolol) and digitalis glycosides was prescribed because of suspicion of long QT syndrome occurring with fetal congestive heart failure. The male baby was born at 39 weeks of gestation and showed a prolonged QT interval (QTc = 492 ms) and frequent variable AV block or alternating left and right bundle branch block, depending on the atrial rate. Prenatal administration of lidocaine failed to correct the fetal VT. Conversely, propranolol decreased the attack frequency of fetal VT. Postnatal administration of the K⁺ channel opener (nicorandil) successfully shortened the QT interval and improved the outcome. Copyright © 2002 John Wiley & Sons, Ltd.