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PubMed2003

Chorioangioma and its severe infantile sequelae: case report.

OBJECTIVE: This case report describes a rare clinical presentation of chorioangioma diagnosed prenatally because of raised-maternal serum (MS) alpha-fetoprotein. METHODS: A thirty-year-old woman gravida 2, para 1 was referred to the ultrasound unit at 18 weeks of gestation because of abnormal MS triple-test results. This included AFP level of 14.9 MoM; hCG of 3.42 MoM and uE3 of 1.01 MoM. A detailed anomaly scan revealed a singleton fetus with no sonographically detectable malformations and normal amniotic fluid. The placenta was posterior. A well-circumscribed, rounded, predominantly hypoechoic lesion near the chorionic surface measuring 5 x 5 cm and protruding into the amniotic cavity was detected. Color Doppler sonogram showed no blood flow within the mass, but clear fetal waveforms in its periphery were demonstrated, and the diagnosis of chorioangioma was made. The pregnancy was followed uneventfully until 35 weeks of gestation when polyhydramnios and severe fetal cardiomegaly developed. Labor was therefore induced. RESULTS: A euploid female, who had multiple diffuse cutaneous and liver angiomatosis was born. She died at the age of one month because of cardiac failure and infection. CONCLUSIONS: The present case alerts to the interrelationship between placental and fetal angiomas. This may lead to severe infantile sequelae because of similar lesions.

Adult↗
PubMed1985

Two massive congenital intracranial immature teratomas with neck extension.

In this report we detail two congenital intracranial immature teratomas, noteworthy for their massive intracranial growth and extension through the skull with compromise of neck structures. Cytogenetic studies were done in both cases on the fetuses and their tumors and are the first in the literature. Few previously reported congenital intracranial teratomas have been described with neck extension. In both cases, polyhydramnios was detected by prenatal ultrasonography and was possibly caused by the laryngoesophageal and/or brainstem distortion by neoplasm. Possible reasons for such excessive, unchecked growth of teratomas in the fetal period are discussed.

Adult↗
PubMed1991

Holoprosencephaly in a fetal macaque (Macaca nemestrina) following weekly exposure to ethanol.

Previous studies in rodents have indicated that the facial changes of fetal alcohol syndrome (FAS) closely resemble those of a mild form of holoprosencephaly. In order to examine this relationship in non-human primates, we evaluated a 133-day gestation macaque (Macaca nemestrina) with holoprosencephaly, median cleft lip and palate, and encephalocele. The mother had been given ethanol once per week (1.8 g/kg body weight) from weeks 2 to 19 postconception. Diagnosis of holoprosencephaly was made following ultrasound evaluation for polyhydramnios and delivery of the female fetus by caesarean section. Another fetus of identical age was delivered by caesarean section for use as a control. Both fetuses were studied by anthropometric, gross, radiographic, and histologic techniques. In the fetus exposed to alcohol, no extracranial anomalies were identified and the karyotype was normal. The brain was micrencephalic, with absent olfactory bulbs, tracts, optic nerves and chiasma, fused frontal lobes, and a single, dilated lateral ventricle; a parietooccipital encephalocele consisted of thin, dysplastic cortex bordering the ventricle; the cerebellum was dysplastic and superiorly displaced. Within the craniofacial complex, anophthalmia was bilateral; premaxillary components were absent, palatal shelves separate, the maxillae closeset, and the ethmoid bone small and deformed. Most of these defects are similar to those encountered in humans with holoprosencephaly and support the hypothesis of shared etiologic and pathogenetic relations between the facial anomalies of fetal alcohol syndrome and holoprosencephaly.

Animals↗
PubMed2004

Prenatal sonographic features of a rhabdoid tumor of the kidney.

Rhabdoid tumors of the kidney are highly lethal malignancies of infancy. We report the prenatal detection of a renal rhabdoid tumor with mesoblastic components in a fetus at 27 weeks of gestation. The tumor presented as a large mass in the left renal area and there was concomitant massive polyhydramnios. Though the sonographic features alone did not allow distinction from a benign lesion, the aggressive tumor growth indicated malignancy. Amniotic fluid cytology was performed but failed to confirm the diagnosis. Corticosteroids were administered for lung maturation. Tocolysis, including betamimetics, magnesium and indomethacin, was performed to prevent premature labor. Additionally, serial amniodrainage was performed. At 30 weeks of gestation fetal hydrops developed and a Cesarean section was performed. After delivery, ventilation of the preterm infant was insufficient due to diaphragm elevation by the huge tumor, requiring immediate tumor surgery. However, though ventilation was improved the infant died of cardiac failure 4 h after surgery.

Adult↗
PubMed2005

Prenatal laser treatment of a placental chorioangioma.

Large placental chorioangiomas are rare complications in pregnancy. We present a case of a placental chorioangioma, complicated by polyhydramnios, in which obliteration of its blood supply using diode laser coagulation at 25 weeks of gestation was followed by an uneventful pregnancy and delivery of a healthy baby with a normal follow-up at the age of 9 months. Laser coagulation of the feeding vessels seems to be an effective treatment for chorioangiomas when the blood supply is superficial and the feeding vessels are small in diameter.

Adult↗
PubMed2005

Diagnosis of fetal ductus arteriosus aneurysm: importance of the three-vessel view.

OBJECTIVE: To present four cases of ductus arteriosus aneurysm (DAA) detected by fetal echocardiography and highlight the value of the three-vessel view in the diagnosis of DAA. METHODS: In addition to the standard fetal echocardiographic views, we examined the three-vessel view in four cases of DAA. The three-vessel view was achieved by sliding the transducer cranially from the four-chamber plane toward the fetal upper mediastinum to demonstrate cross-sections of the main pulmonary artery, the ascending aorta and superior vena cava arranged in a straight line from the left anterior to the right posterior aspect of the mediastinum. DAA was diagnosed when there was a tortuous ductus arteriosus with a dilation that protruded leftward of the aortic arch. CASE SERIES: In the first case, an insulin-dependent diabetic woman underwent fetal ultrasound examination at 36 weeks' gestation showing right-to-left cardiac disproportion and bidirectional flow in the aorta and main pulmonary artery (PA). The three-vessel view showed a dilated ductus arteriosus (DA) which was stenosed at its distal end. In the second case, a woman had fetal ultrasound scans at 38 and 39 weeks' gestation for suspected intrauterine growth restriction and oligohydramnios. The scans identified an abnormal aortic arch and the three-vessel view showed an elongated vascular structure at the distal end of the PA, which was the DAA. In the third case, a woman with a high-risk obstetric history had multiple scans showing an abnormal PA to aorta relationship, with an apparent 'kink' in the PA. The three-vessel view clarified that this was the DAA. In the fourth case, a woman was scanned because of a 3-kg weight gain in 1 week. The fetal ultrasound scan showed moderate polyhydramnios with normal fetal growth and normal intracardiac anatomy and flow, and the three-vessel view demonstrated a large DA. In each of these cases, the DAA appeared to have occurred in isolation with non-specific clinical findings. CONCLUSION: We advocate the use of the three-vessel view, in conjunction with the standard echocardiography views currently employed, to assist in the diagnosis of DAA.

Adult↗
PubMed2003

Prenatal sonographic diagnosis of isolated agnathia: a case report.

Agnathia is a rare malformation characterized by the absence of the mandible, microstomia, aplasia or hypoplasia of the tongue, and low-set or medially fused ears. It occurs alone or in combination with a variety of malformations such as holoprosencephaly. All previous cases of the prenatal diagnosis of agnathia have been accompanied with fatal anomalies. We report here the first case of isolated agnathia, which was diagnosed by prenatal sonography at 32 weeks of gestation. In this case, prenatal sonographic examination showed the severe defect of the chin, small opening of the mouth and severe polyhydramnios. There was no sonographic evidence of holoprosencephaly or anomalies in other organ systems. The diagnosis was confirmed postnatally.

Adult↗
PubMed2005

First-trimester ultrasound diagnosis in a recurrent case of Walker-Warburg syndrome.

We report on two siblings with Walker-Warburg syndrome (WWS) born to a consanguineous couple. In the index case, the second-trimester scan showed ventricular dilatation and we diagnosed WWS after observing retinal detachment at 26 weeks' gestation and lissencephaly by 32 weeks' gestation in addition to hypoplasia of the cerebellar vermis. The second case was first suspected at 12 weeks' gestation, when we observed a 2.8-mm nuchal translucency and an unusually large hindbrain vesicle. By 14 weeks' gestation, the lateral ventricles were clearly enlarged (12-13 mm), at 16 weeks' gestation the vitreous chamber appeared to be hyperechogenic, and by 17 weeks' gestation hydrocephalus was evident. The couple chose to continue the pregnancy, and during the third trimester lissencephaly, major hydrocephalus and polyhydramnios developed. Serial ultrasound examination should be offered to a family with a history of WWS and therefore a 1 in 4 risk of recurrence. In some cases, recurrence can be suspected as early as the first trimester, however the diagnosis cannot be excluded on the basis of normal ultrasound appearance until later in pregnancy.

Abnormalities, Multiple↗
PubMed2005

Abnormal umbilical-portal-hepatic venous system in two siblings: a sign for congenital cholangiodysplasia.

We report on two siblings who presented prenatally with a ductus venosus (DV) that was abnormally located between the middle hepatic vein (mHV) and the proximal inferior vena cava (IVC), and with hepatomegaly. The first case presented with polyhydramnios at 33 weeks and therapeutic amniocentesis resulted in premature delivery soon after admission. The neonate died 19 days later and autopsy revealed congenital cholangiodysplasia. The second fetus presented for routine screening at 19 weeks of gestation and was found to have similar abnormalities of the venous system, suggesting the same origin of disease. Termination of pregnancy was performed and autopsy revealed congenital cholangiodysplasia. Our observations suggest that an abnormal umbilical-portal-hepatic venous system may be associated with a congenital malformation of the liver.

Adult↗
PubMed2003

Prenatal diagnosis of cephalothoracopagus janiceps disymmetros using three-dimensional power Doppler ultrasound and magnetic resonance imaging.

We report the prenatal imaging findings of a rare case of cephalothoracopagus janiceps disymmetros diagnosed at 28 weeks' gestation. Two-dimensional ultrasound and magnetic resonance imaging demonstrated janiceps conjoined female twins with a single fused cranial vault, duplicated cerebra, two faces, four eyeballs, a fused thorax, two hearts, two thoracic spines, eight limbs and polyhydramnios. Three-dimensional and power Doppler ultrasound established the definitive classification of cephalothoracopagus conjoined twins and displayed the shared circulation between the two separate hearts.

Abnormalities, Multiple↗
PubMed2003

Treatment of severe fetal chylothorax associated with pronounced hydrops with intrapleural injection of OK-432.

We describe a case of a 25-week fetus with severe bilateral pleural effusion, marked ascites, skin edema, an anterior thick (hydropic) placenta and polyhydramnios in which the most probable diagnosis was congenital chylothorax. Treatment with a pleuroamniotic shunt was planned, however the location of the fetus just below the anterior placenta made the placement of the shunt too dangerous. We therefore decided to use intrapleural injection of OK-432. From week 29, the lungs looked normal, the pleural effusion had resolved and the thoracic circumference was within normal limits. The severe ascites persisted throughout the pregnancy and a total volume of 3680 mL was removed on several occasions. A Cesarean section was performed at 38 weeks and a normal male was delivered. Continuous positive airway pressure was needed on the first 4 days but after a week the situation was stable. On day 8, an X-ray showed normally developed lungs. OK-432 appears to have prevented pulmonary hypoplasia in our patient.

Adult↗
PubMed2006

Sonographic characteristics of linear nevus sebaceous sequence.

Linear nevus sebaceous is a hamartomatous lesion most commonly seen on the face and head of infants and diagnosed after birth. We describe a patient with sonographic findings of linear nevus sebaceous seen initially at 30 weeks' gestation. Other associated sonographic findings include macrocephaly and polyhydramnios. When associated with a midline soft tissue mass, these findings are highly suggestive of the presence of congenital linear nevus sebaceous sequence.

Adult↗
PubMed2006

Cleft of the secondary palate without cleft lip diagnosed with three-dimensional ultrasound and magnetic resonance imaging in a fetus with Fryns' syndrome.

We present a case of Fryns' syndrome diagnosed prenatally using three-dimensional (3D) ultrasonography and magnetic resonance imaging (MRI). A cleft of the soft palate was diagnosed using 3D thick-slice ultrasonography. Other sonographic findings included a right diaphragmatic hernia, enlarged echogenic kidneys and severe polyhydramnios. The detection of the cleft palate was instrumental in suggesting the diagnosis of Fryns' syndrome in a fetus which also had a diaphragmatic hernia. These findings were also demonstrated with prenatal MRI. The technique of imaging the soft palate en face using a thick-slice technique is presented.

Abnormalities, Multiple↗
PubMed2006

Timely diagnosis of twin-to-twin transfusion syndrome in monochorionic twin pregnancies by biweekly sonography combined with patient instruction to report onset of symptoms.

OBJECTIVES: To assess the value of serial ultrasound examinations together with patient instructions to report the onset of symptoms in achieving timely detection of twin-to-twin transfusion syndrome (TTTS) in a cohort of monochorionic diamniotic twin pregnancies, and to evaluate sonographic TTTS predictors. METHODS: Timely detection of TTTS was defined as diagnosis before severe complications of TTTS occurred, such as preterm prelabor rupture of membranes, very preterm delivery (24-32 weeks of pregnancy), fetal hydrops, or intrauterine fetal death. During a 2-year period, a prospective series of 23 monochorionic twin pregnancies was monitored from the first trimester until delivery. At least every 2 weeks we performed ultrasound and Doppler measurements (nuchal translucency thickness, presence of membrane folding, estimated fetal weight, deepest vertical pocket, bladder filling, and Doppler waveforms of the umbilical artery, ductus venosus and umbilical vein). Measurements of TTTS cases were compared with those of non-TTTS cases matched for gestational age. Furthermore, patients were informed about the symptoms caused by TTTS, and instructed to consult us immediately in case of rapidly increasing abdominal size or premature contractions. RESULTS: In all four TTTS cases, the diagnosis was timely. At the time of diagnosis, one case was at Quintero Stage 1, two at Quintero Stage 2, and one at Quintero Stage 3. Two of the TTTS cases became apparent after the patients' feeling of rapidly increasing girth. The identification of TTTS predictors was successful with respect to one parameter: isolated polyhydramnios in one sac, without oligohydramnios in the other, preceded the ultimate diagnosis of TTTS in two of the four TTTS cases. All other ultrasound measurements of TTTS cases, prior to the diagnosis of TTTS, were within the range of measurements of non-TTTS cases. CONCLUSION: Biweekly ultrasound examinations, with special attention to the amniotic fluid compartments of both fetuses, combined with detailed patient instructions to report the onset of symptoms resulted in timely diagnosis of all TTTS cases and appears to be a safe program for monitoring monochorionic twin pregnancies.

Adult↗
PubMed2003

Prenatal diagnosis of esophageal atresia with the pouch sign.

A 19-year-old primipara was referred to our center for a routine scan at 33 + 4 weeks' gestation. A visible but small stomach bubble (18 mm) was detected in the fetal abdomen, associated with a dilation of the esophagus with a tapering distal part. Direct visualization of filling and emptying of the proximal esophagus suggested the presence of obstruction. A cystic pouch in the region of the esophagus was observed to be full and empty in accordance with fetal swallowing. No other fetal anomalies were detected. Fetal biometric measurements were on the 10th percentile and polyhydramnios was detected. Esophageal atresia type I was suspected. Fetal karyotyping was declined by the parents, no therapy was given and the pregnancy continued until week 37 when a female baby was delivered following spontaneous labor. Esophageal atresia type I was radiographically confirmed. Bougienage was used for 8 weeks and esophageal anastomosis was successfully performed when the infant was 11 months old. No other anomalies were found and the child is currently in excellent health. The present case shows that the upper neck pouch sign may be a delayed manifestation present only in certain types of esophageal atresia. However, when it occurs it should prompt careful fetal examination as it is an important step in the diagnosis of esophageal atresia.

Adult↗
PubMed1992

An epidemiologic study of environmental and genetic factors in congenital hydrocephalus.

Risk factors were studied in 96 children with congenital hydrocephalus (CH) coming from 118,265 consecutive births of known outcome. Hydrocephalus with neural tube defects, intracranial tumors or secondary to brain atrophy were excluded. The prevalence of CH was 0.81 per thousand. Diagnosis was performed prenatally in 41 cases. Forty-three (44.8%) of the cases had hydrocephalus without other malformations (isolated hydrocephalus), 18 (18.7%) infants had recognized chromosomal or non-chromosomal syndromes and 35 children (36.4%) had multiple malformations. Each case was matched to a control. Weight and length at birth of children with hydrocephalus were less than in the controls (p < 0.001). The weight of the placenta was lower than in the controls (p < 0.05). The pregnancy with a hydrocephalic child was more often complicated by threatened abortion, polyhydramnios and oligohydramnios. The mothers of children with hydrocephalus and multiple malformations had used oral contraceptives during the first trimester of pregnancy more often than the mothers of the controls. No differences appeared between the mothers of children with CH and the controls for the other risk factors studied: parental age, parity, previous pregnancies, previous stillbirths, smoking, diabetes, epilepsy, X-rays, hypertension, fever "flu", medication and occupational exposure. There was an increase of parental consanguinity in the parents of our patients (6.2% v. 1.1%, p < 0.001) and first degree relatives had more non-cerebral malformations than the controls (7.3% v. 3.2%, p < 0.05).

Case-Control Studies↗
PubMed1981

Arthrogryposis-like signs in trisomy 18.

Two cases of newborn male infants afflicted with trisomy 18 and with signs of arthrogryposis multiplex congenita (AMC) are described. Anomalies occurring in most cases of trisomy 18 such as polyhydramnios, reduced foetal activity, and skeletal muscle hypoplasia decrease articular movements and, thus might cause AMC. Since AMC is rarely associated with trisomy 18, chromosomal aberration is not the only factor involved in these cases.

Arthrogryposis↗