1/288. Diprosopus (partially duplicated head) associated with anencephaly: a case report.Craniofacial duplication (diprosopus) is a rare form of conjoined twin. A 16 year old mother with a twin pregnancy delivered one normally formed baby boy and one diprosopus male. The malformed baby was 33 weeks of gestation with a single trunk, normal limbs and various degrees of facial duplication. Of the following structures there were two of each: noses, eyes, ears (and one dimple), mouths, tongues and, with bilateral central cleft lips and cleft palates. This was associated with holoprosencephaly and craniorachischisis. Internal organs showed no duplication. There were multiple congenital anomalies including diaphragmatic hernia, small lungs, two lobes of the right lung, ventricular septal defect, small adrenal gland and small left kidney with short ureter. The body also had a short neck, small chest cavities and kyphosis. X-ray revealed duplication of the vertebral column. The case presented here represents a type II of diprosopia of Rating (1933) and is the least common type reported. We also reviewed 22 recently reported cases of diprosopus. In addition to facial duplication, anencephaly, neural tube defect and cardiac malformations represent the more common congenital abnormalities associated with diprosopus. The pathogenesis of diprosopus is not well understood. Factors that play a role in diprosopus are probably similar to those factors (genetic, environmental and abnormal placental circulation) which affect monozoygotic twins as observed in this case report. Early ultrasonography diagnosis of diprosopus permits one to consider a vaginal therapeutic abortion.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
2/288. Diagnosis of twin reversed arterial perfusion sequence in the first trimester by transvaginal color Doppler ultrasound.A case of twin reversed arterial perfusion (TRAP) sequence was diagnosed at 12 weeks' gestation using transvaginal color Doppler ultrasound, which demonstrated the presence of retrograde perfusion in the umbilical artery of the abnormal twin. Ultrasound imaging showed a monochorionic-diamniotic twin pregnancy with an inappropriately grown second twin, the morphological evaluation of which revealed an abnormal cephalic pole with acrania, diffuse subcutaneous edema and the presence of cardiac activity in an abnormal heart with a single chamber.- - - - - - - - - - ranking = 5519.2228291324keywords = umbilical artery, umbilical, artery, single (Clic here for more details about this article) |
3/288. Early prenatal diagnosis of cord entanglement in monoamniotic multiple pregnancies.OBJECTIVES: Cord entanglement is a severe complication in monoamniotic multiple pregnancies. Three cases were reviewed to determine how early ultrasound diagnosis might improve counselling and management. methods: In two monoamniotic twin and one dichorionic diamniotic triplet pregnancies, cord entanglement was detected between 10 and 18 gestational weeks by color Doppler and pulsed Doppler velocimetry. Pregnancies were followed up on a weekly basis with special observation of fetal behavior and use of color Doppler velocimetry. RESULTS: In Case 1, a monoamniotic twin pregnancy with cord entanglement close to the umbilical insertions was diagnosed at 10 weeks. Longitudinal follow-up showed intrauterine death of both twins at 15 weeks. In Case 2, entanglement of the umbilical cords of two monoamniotic triplets within a dichorionic diamniotic triplet pregnancy was diagnosed at 10 weeks. The pregnancy continued uneventfully until 35 weeks when cord entanglement was confirmed at cesarean section. All triplets have since developed normally. In Case 3, monoamniotic twins were diagnosed at 18 weeks. color Doppler detected side-by-side insertion of the umbilical cords and Doppler velocimetry suggested an entanglement at the chorionic plate. The pregnancy was complicated by polyhydramnios. cesarean section at 36 weeks confirmed cord entanglement at the chorionic plate. Postnatal computer angiography and morphological examination of the placenta showed the presence of superficial artery-to-artery and vein-to-vein anastomoses and of deep arteriovenous shunts. The development of the twins was uneventful. CONCLUSIONS: Diagnosis of cord entanglement is feasible early in gestation. Future protocols are proposed to document the gestational age at detection, the location, and the Doppler flow patterns and to facilitate the assessment of short- and long-term development.- - - - - - - - - - ranking = 3220.7339210919keywords = umbilical, artery (Clic here for more details about this article) |
4/288. Abnormal ductus venosus blood flow: a clue to umbilical cord complication.We report a case of umbilical cord complication causing, fetal hypoxemia and acidemia. At 30 weeks of gestation, the patient was referred because of slightly increased amniotic fluid volume and a non-reactive cardiotocogram. biometry was appropriate for gestational age. Umbilical artery and fetal aortic Doppler findings were normal, whereas diastolic blood flow velocities in the middle cerebral artery were increased and the ductus venosus showed severely abnormal flow velocity waveforms with reversal of flow during atrial contraction. Since other reasons for fetal hypoxemia could be excluded, careful examination of the umbilical cord was performed. traction of the hypercoiled umbilical cord due to its course around the fetal neck and shoulders was suspected. cesarean section confirmed the sonographic findings and fetal blood gases revealed fetal acidemia. This case indicates that investigation of fetal venous blood flow may also help to identify fetal jeopardy due to reasons other than increased placental vascular resistance.- - - - - - - - - - ranking = 7506.9142651821keywords = umbilical, artery (Clic here for more details about this article) |
5/288. Congenital hernia of the abdominal wall: a differential diagnosis of fetal abdominal wall defects.A 28-year-old woman was referred at 33 weeks of gestation with suspected fetal intestinal atresia. Sonography showed a large extra-abdominal mass on the right of the normal umbilical cord insertion. Following cesarean section at 36 weeks and immediate surgical treatment, the malformation was not definable either as an omphalocele or as gastroschisis. This reported case involves a previously undocumented malformation of the fetal abdominal wall described as a 'hernia' of the fetal abdominal wall.- - - - - - - - - - ranking = 1071.5450860225keywords = umbilical (Clic here for more details about this article) |
6/288. Fetal trisomy 10 mosaicism: ultrasound, cytogenetic and morphologic findings in early pregnancy.We report the ultrasound, cytogenetic and morphologic findings in a case of trisomy 10 mosaicism prenatally detected by chorionic villus sampling (CVS). CVS sampling was carried out at the 13th week of gestation because of ultrasound diagnosis of hydrops fetalis and hygroma colli. trisomy 10 mosaicism was diagnosed in cells from the cytotrophoblast (short-term culture) and the chorionic villus core (long-term culture). Fetal mosaicism was confirmed after termination of pregnancy in umbilical cord cells, placenta and fetal skin fibroblasts.- - - - - - - - - - ranking = 1071.5450860225keywords = umbilical (Clic here for more details about this article) |
7/288. Lymphoproliferative disorder of fetal origin presenting as oligohydramnios.lymphoma involving the placenta or fetus remains a very rare event. All cases reported to date have shown the lymphoma cells to be of maternal origin in that the tumor cells have preferentially involved the intervillous spaces with sparing of the villi and fetal circulation. We report a novel case of a monoclonal primary placental Epstein-Barr virus (EBV)-associated B-cell lymphoma of fetal origin. The placenta of a 20-week stillborn fetus born to a 19-year-old gravida 1 para 0 woman, presenting with oligohydramnios, showed a large cell infiltrate confined within villi and sparing the intervillous spaces, indicative of preferential involvement of the fetal circulation. Necropsy did not show any other site of involvement by malignant lymphoma or other abnormalities. Immunophenotypic studies showed the tumor cells to be of B-cell phenotype with a relatively high proliferation rate. EBV EBER1 rna was identified in more than 95% of tumor cells, and polymerase chain reaction studies showed EBV EBNA1 strain type A and wildtype EBV LMP1. Analysis of the immunoglobulin heavy chain by polymerase chain reaction showed a monoclonal B-cell population. in situ hybridization studies using a commercially available probe directed at repeated sequences on the human y chromosome showed a single intense signal within trophoblastic epithelium and lymphoma cells, indicative of male origin. The mother remains in good health 11 months after delivery.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
8/288. Sirenomelia. Pathological features, antenatal ultrasonographic clues, and a review of current embryogenic theories.We aimed to discuss the prenatal diagnosis and pathological features of sirenomelia, and to review current embryogenic theories. We observed two sirenomelic fetuses that were at the 19th and 16th gestational week respectively. In the former, transvaginal ultrasound revealed severe oligohydramnios and internal abortion, whereas bilateral renal agenesis, absence of a normally tapered lumbosacral spine, and a single, dysmorphic lower limb were detected in the latter. In both cases, x-rays and autoptic examination allowed categorization on the basis of the skeletal deformity. Subtotal sacrococcygeal agenesis was present in both cases. Agenesis of the urinary apparatus and external genitalia and anorectal atresia were also found. classification of sirenomelia separately from caudal regression syndrome is still debated. Recent advances in the understanding of axial mesoderm patterning during early embryonic development suggest that sirenomelia represents the most severe end of the caudal regression spectrum. Third-trimester ultrasonographic diagnosis is usually impaired by severe oligohydramnios related to bilateral renal agenesis, whereas during the early second trimester the amount of amniotic fluid may be sufficient to allow diagnosis. Early antenatal sonographic diagnosis is important in view of the dismal prognosis, and allows for earlier, less traumatic termination of pregnancy.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
9/288. Heterotaxy-neural tube defect and holoprosencephaly occuring independently in two sib fetuses.We report on two sib fetuses, products of a consanguineous union, who had multiple and apparently unrelated malformations. The first fetus, a female, had trilobed lungs, a single cardiac ventricle, asplenia, situs ambiguus of the liver, and a lumbosacral meningomyelocele. The brain of this fetus was normal. The second fetus, a male, had bilobed lungs, a single cardiac ventricle, situs solitus of the abdominal organs and spleen, and a semilobar holoprosencephaly. The occurrence of these malformations in sibs of different sexes and the parental consanguinity suggest a recessive mutation in a gene responsible for both heterotaxy and midline defects, including holoprosencephaly.- - - - - - - - - - ranking = 2keywords = single (Clic here for more details about this article) |
10/288. prenatal diagnosis in a family with severe type I plasminogen deficiency, ligneous conjunctivitis and congenital hydrocephalus.Severe type I plasminogen deficiency may cause severe ligneous conjunctivitis, a rare and unusual form of chronic pseudo-membranous conjunctivitis that usually starts in early infancy, but also pseudo-membranous lesions of other mucous membranes in the mouth, nasopharynx, trachea and female genital tract, and in rare cases congenital occlusive hydrocephalus. The index patient, the daughter of a consanguineous marriage, had suffered from severe ligneous conjunctivitis and had died from decompensated congenital hydrocephalus despite numerous shunt revisions. She was found to be homozygous for a non-sense mutation in exon 15 of the plasminogen gene (Trp597->Stop). In her next pregnancy, the mother asked for prenatal diagnosis of the plasminogen deficiency. Chorionic villus biopsy was performed at 12 weeks of gestation. dna analysis of the plasminogen gene by PCR and single-strand conformation polymorphism (SSCP) revealed that the fetus exhibited an identical heterozygous band pattern as observed in the healthy mother. Therefore, the fetus was heterozygous for the Trp597->Stop mutation in plasminogen exon 15. In addition, the fetus was found to be male by cytogenetic analysis and by multiplex PCR analysis using two polymorphic X-chromosomal markers (DXS424, HPRT). These findings excluded the possibility of contamination by maternal dna. It was concluded that the fetus was not at risk for ligneous conjunctivitis and its associated complications. After the birth of a healthy boy, plasminogen functional activity was shown to be 38 per cent. dna analysis confirmed prenatal molecular genetic results.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
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