1/44. prenatal diagnosis of dyssegmental dysplasia. A case report.BACKGROUND: Since the first use of sonography, most fetal dwarfism has been detectable prenatally. The correct differentiation of the subtype of dwarfism is difficult at times. Dyssegmental dysplasia is probably an exception to these subtypes because the vertebral disorganization and occipital encephalocele at times permits prenatal diagnosis. CASE: A 34-year-old woman, gravida 3, para 1, elective abortion 1 for dwarfism, was referred at 27 weeks' gestation for cystic hygroma. Further sonographic findings included: cystic hygroma with massive ascites, micromelia, occipital encephalocele, spinal disorganization and hydramnios. The fetus and both parents appeared to have a normal karyotype. Later the pregnancy was terminated with vaginal delivery. The fetus had micromelia, camptomelia, cystic hygroma, a flat face, short neck, short trunk, narrow thorax with protuberant abdomen, scoliosis and clubfeet. CONCLUSION: Sonography is effective in prenatal diagnosis of dyssegmental dysplasia. With sonography, diagnosis of dyssegmental dysplasia becomes possible as early as the first trimester.- - - - - - - - - - ranking = 1keywords = gestation, pregnancy (Clic here for more details about this article) |
2/44. sex chromosome pentasomy (49,XXXXY) presenting as cystic hygroma at 16 weeks' gestation.The pentasomy 49,XXXXY is one of the rarest sex chromosome defects, occurring with an estimated incidence of 1 in 85 000 male births. This condition is associated with pre- and postnatal growth deficiency, severe mental retardation, hypogenitalism, and other skeletal, facial and cardio-vascular anomalies. In this report we present such a case diagnosed prenatally by chorionic villus sampling after the ultrasound detection of cystic hygroma at 16 weeks' gestation. Although the prenatal diagnosis of cystic hygroma and its association with aneuploidy has been documented in numerous reports, sex chromosome aneuploidy, other than the 45,X karyotype, accounts for only 0.3 per cent of cases.- - - - - - - - - - ranking = 4.6008735861213keywords = gestation (Clic here for more details about this article) |
3/44. 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 = 1.319301131103keywords = gestation, pregnancy (Clic here for more details about this article) |
4/44. noonan syndrome presented with cystic hygroma and chylothorax: case report.A cystic hygroma was found in a full-term (39 week-old) male newborn delivered by cesarian section. polyhydramnios was diagnosed by sonography at 21 weeks of gestation. Clinical manifestations at birth, such as respiratory distress, tachypnea and chylothorax were successfully relieved by the insertion of chest tube and medical therapy. Other conditions, which included mild hydronephrosis of left kidney, thickening of aortic and pulmonary valves with mild mitral and tricuspid valves regurgitation, subsided within six months. The cystic hygroma regressed to a webbed neck. In general, the features and clinical manifestations of the present case resembled the criteria of noonan syndrome including various congenital heart defects; webbed neck; chest deformity; a characteristic facial appearance comprising of a broad forehead, ocular hypertelorism, antimongoloid slant of palpebral fissures, low set ears; and bilateral undescended testis etc., suggested by Noonan and other subsequent authors. The outcome of this infant was satisfactory following medical and surgical therapy (chest tube, orchiopexy) and a special dietary regimen.- - - - - - - - - - ranking = 0.92017471722425keywords = gestation (Clic here for more details about this article) |
5/44. Non-lethal arthrogryposis multiplex congenita presenting with cystic hygroma at 13 weeks gestational age.arthrogryposis is defined as multiple joint contractures, the aetiology of which is variable. prenatal diagnosis has focused on diminshed fetal movement and detection of joint contractures on ultrasound. These findings usually do not become evident until 16 to 18 weeks of gestation. Although others (Baty, 1989; Hyett et al., 1997) have reported the diagnosis of arthrogryposis in the first and early second trimester by the presence of nuchal oedema, these reports have all focused on lethal conditions. We report on two female siblings with non-lethal arthrogryposis multiplex congenita. The diagnosis was suspected in the second pregnancy at 13.5 weeks when a large cystic hygroma was detected on ultrasound. Multiple joint contractures became evident at 18 weeks. We hypothesize that the aetiology may be secondary to delay in lymphatic maturation with development of a large cystic hygroma resulting in restriction of fetal movement during early joint formation. Further, the fact that the two female siblings had a similar pattern of facial and joint development, and that their parents are second cousins, suggests an autosomal recessive basis for this form of AMC.- - - - - - - - - - ranking = 4.680698868897keywords = gestation, pregnancy (Clic here for more details about this article) |
6/44. Retro-peritoneal cystic lymphangioma in association with fetal hydantoin syndrome.Antiepileptic drugs are known to be teratogenic. Use of phenytoin during pregnancy can cause various congenital malformations leading to 'fetal hydantoin syndrome'. One such case reported is unique in the sense that it occurred with retroperitoneal cystic lymphangioma, itself a rare condition. Such an association is not described elsewhere.- - - - - - - - - - ranking = 0.079825282775748keywords = pregnancy (Clic here for more details about this article) |
7/44. Variability in the phenotypic expression of fryns syndrome: A report of two sibships.We report on two sibships with four fetuses of 12, 15, 17, and 20 weeks of gestation, respectively, and 1 preterm baby of 31 weeks of gestation affected by a multiple congenital disorder with manifestation suggestive of Fryns syndrome. In addition to the characteristic malformation pattern in Fryns syndrome, they presented with fetal hydrops, cystic hygroma, and multiple pterygias, allowing prenatal ultrasound diagnosis as early as in the 11th week of gestation. The two affected fetuses of family 1 showed severe craniofacial anomalies with bilateral cleft lip and palate, acral hypoplasia, postaxial oligodactyly, persistent truncus arteriosus, and interrupted aortic arch, asplenia sequence, and complex central nervous system midline malformations. In family 2 with three affected sibs, ear anomalies with atresia of the auditory canals, postaxial hexadactyly, intestinal atresias, callosal defects, and eye colobomas were the most outstanding features. On the basis of the present findings and former reports, the inter- and intrafamiliar phenotypic variability in Fryns syndrome, possible pathogenetic mechanisms, and the value of prenatal diagnosis are discussed. In the pathogenetic discussion, a special emphasis is put on the neural crest cell developmental field.- - - - - - - - - - ranking = 2.7605241516728keywords = gestation (Clic here for more details about this article) |
8/44. Outcome of fetal cystic hygroma and experience of intrauterine treatment.OBJECTIVE: To review our cases of fetal cystic hygroma and to examine the prognostic factors with the goal of establishing criteria for the intrauterine treatment for cystic hygroma. patients AND methods: Thirty-one cases of fetal cystic hygroma were managed by us from January 1988 to December 1997, and 21 cases were available for analysis. Three prognostic factors, namely chromosomal abnormality, structural anomaly and hydrops fetalis, were evaluated. We treated 2 cases of cystic hygroma associated with hydrops fetalis in utero using OK-432 injection under ultrasound guidance. RESULTS: The fetuses without any of the prognostic factors listed above showed a good prognosis throughout the fetal and neonatal periods. However, in this group, 2 infants with large tumors died of hemorrhage from the tumor at 6 months and 3 years of age, respectively. Cases with hydrops fetalis without chromosomal abnormalities or structural anomalies (5 cases) resulted in either intrauterine fetal death (IUFD, 2 cases) or early perinatal neonatal death (early PND, 3 cases). The cause of early PND was circulatory failure. Most of the hydrops cases with either a chromosomal abnormality or structural anomaly resulted in IUFD before 22 weeks of gestation. The size of the cyst decreased in 1 of 2 cases treated in utero. CONCLUSIONS: The fetal cases of cystic hygroma showing hydrops fetalis without chromosomal abnormalities or structural anomalies are considered to be possible candidates for intrauterine therapy. Those with very large cystic hygroma without any of the three prognostic factors are also thought to be candidates for fetal treatment. Based on our clinical experience, sclerotherapy using OK-432 is considered to be a treatment option in selected cases with fetal cystic hygroma.- - - - - - - - - - ranking = 0.92017471722425keywords = gestation (Clic here for more details about this article) |
9/44. Renal lymphangiomatosis during pregnancy: management with percutaneous drainage.We report a unique case of exacerbation of renal lymphangiomatosis during pregnancy which was managed percutaneously until delivery. Renal lymphangiomatosis is a very rare benign disorder that might cause abdominal pain and rarely hypertension and hematuria. Surgical treatment options may result in nephrectomy. Percutaneous drainage of symptomatic renal lymphangiomas should be viewed as an efficient therapeutic option particularly when surgery is contraindicated.- - - - - - - - - - ranking = 0.39912641387874keywords = pregnancy (Clic here for more details about this article) |
10/44. Recurrent fetal cystic hygroma with normal chromosomes: case report and review of the literature.recurrence of fetal cystic hygroma in subsequent pregnancies is extremely rare. A review of the literature to date revealed only two other reports of recurrence with normal fetal karyotypes documented in at least two of the affected pregnancies. At 11 weeks' gestation, the fetus of a 19-year-old gravida 3 para 0 was discovered to have a large cystic hygroma. Subsequent evaluation during the second trimester revealed increasing size of the septated nuchal mass and ascites. A 46,XX fetal karyotype was noted in her two prior pregnancies, both of which had also been complicated by the development of cystic hygroma and nonimmune hydrops. Cystic hygroma, associated with a normal karyotype, can be inherited as an autosomal recessive trait.- - - - - - - - - - ranking = 0.92017471722425keywords = gestation (Clic here for more details about this article) |
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