摘要:

Offering invasive prenatal cytogenetic testing in cases of isolated choroid plexus cysts is controversial. To give a contribution to this discussion we recorded prospectively the course of 41 fetuses with cysts of the choroid plexus diagnosed in 4,326 pregnancies sonographically scanned in our center between January 1994 and August 1995. The fetuses were all in the 13th to 24th week of gestation, with an average of 19.3 weeks. Only 1 of these fetuses (with large bilateral choroid plexus cysts) had further sonographically visible malformations (renal and cardiac anomalies, malposition of the hands). 34 fetuses had bilateral and 7 one-sided plexus cysts. 38 of the 41 patients decided on invasive diagnosis; karyotyping was successful in all these cases. The complete follow-up until 5 days after birth is known in 38 fetuses, including 3 without genetic diagnosis. A chromosomal aberration was detectable only in 1 fetus (trisomy 18, this fetus had the additional malformations described above), the other fetuses all displaying neither chromosomal nor morphological abnormalities. All fetuses, excluding 1 (the pregnancy was terminated due to trisomy 18) were re-examined before the 25th week of gestation, plexus cysts only still being visible in 3 fetuses. By the 30th week of gestation in these 3 fetuses the cysts had also disappeared. Furthermore, 20 pregnancies with confirmed trisomy 18 diagnosed between 1990 and 1996 were analyzed retrospectively. In 19 cases heart defects had been detected by prenatal ultrasound, cervical hygroma being less common (6 cases) and other malformations still rarer. Choroid plexus cysts had, however, been seen only in the 1 case described above. There was no case of isolated choroid plexus cysts in this group. From our data and current literature we conclude that isolated choroid plexus cysts are not an absolute indication for fetal karyotyping. In our opinion a detailed ultrasound assessment to seek for further malformations in a specialized center would be necessary if fetal choroid plexus cysts have been diagnosed, and only if additional fetal malformations are indeed detectable a fetal karyotype should be recommended.

ISSN:1015-3837    

DOI:10.1159/000264480

出版商:S. Karger AG    

年代:1997

数据来源: Karger

摘要:

Seven infants with laryngotracheoesophageal (LTE) clefts who had abnormal prenatal fetal sonographs were reviewed retrospectively to evaluate the antenatal scan characteristics, clinical features at presentation and associated malformations. The prenatal scans demonstrated polyhydramnios, lung cysts and an absent stomach in all. The mode of delivery was by emergency lower segment cesarean section for fetal distress, in all 7 babies. The mean gestational age at delivery was 36 weeks (range 33–38) and intrauterine growth retardation was seen in 4 neonates. A combination of endoscopy, surgery and autopsy confirmed LTE cleft type 4 in 5 patients, type 3 and type 2 in a patient each. Esophageal atresia and lower pouch tracheoesophageal fistula was present in all. Agastria was seen in 4 and microgastria in 3 children. Lung abnormalities were seen in all 7 infants and they included congenital lung cysts (4 patients), absent lung lobulation (3 patients), bronchogenic cysts (2 patients), cystic adenomatoid malformation (1 patient) and bronchoesophageal fistula (1 patient). The mortality was 86% and the sole survivor had a LTE cleft type 2 which was successfully repaired. The diagnosis of LTE cleft must be considered if a prenatal scan demonstrates the triad of: (1) polyhydramnios; (2) absent stomach, and (3) presence of lung cyst. This should lead to a detailed postnatal evaluation and early diagnosis of this uncommon anomaly resulting in early counseling and suitable managemen

ISSN:1015-3837    

DOI:10.1159/000264481

出版商:S. Karger AG    

年代:1997

数据来源: Karger

摘要:

The prenatal diagnosis of 2 fetuses with total anomalous pulmonary venous connection was made by color Doppler echocardiography at 31 and 38 weeks of gestation, respectively. Both had asplenic hearts and their diagnoses were confirmed by postnatal echocardiography, magnetic resonance imaging, and angiography. The antenatal diagnosis of total anomalous pulmonary venous connection in right isomerism could provide an optimal postnatal medical and surgical management. Moreover, monitoring of the velocity profile of the pulmonary venous flow is beneficial for decreasing the risk of sudden collapse by pulmonary venous obstruction throughout the perinatal period.

ISSN:1015-3837    

DOI:10.1159/000264482

出版商:S. Karger AG    

年代:1997

数据来源: Karger

摘要:

At 10–14 weeks of gestation about 80% of fetuses with chromosomal defects have abnormal accumulation of subcutaneous fluid in the nuchal region that is visualized by ultrasonography as nuchal translucency. A possible cause for this translucency is cardiac dysfunction due to the associated defects in the heart and great arteries. The aim of this study was to investigate whether in cardiac tissue from trisomic fetuses, compared to normals, there is an alteration in the steady state levels of expression of the genes encoding sarcoplasmic reticulum calcium ATPase (calcium ATPase), which is known to be downregulated in postnatal heart failure. After termination of pregnancy at 10–18 weeks of gestation, mRNA was extracted from cardiac tissue in 11 trisomy 21 and 4 trisomy 18 fetuses. Densitometric analysis of the Northern and slot blots was used to determine the steady state levels of expression of calcium ATPase and the values from the trisomic fetuses were compared to those of 30 normal controls at 10–18 weeks. Calcium ATPase gene expression did not change significantly with gestation at 10–18 weeks. In trisomic fetuses there was no significant decrease in calcium ATPase expression and expression levels of calcium ATPase were not related to increased nuchal translucency. However, the levels expressed in fetuses are already very low and cardiac dysfunction as a potential etiological factor cannot be e

ISSN:1015-3837    

DOI:10.1159/000264483

出版商:S. Karger AG    

年代:1997

数据来源: Karger

摘要:

The aim of this study was to evaluate the outcome of late emergency cervical cerclage, after 20 weeks’ gestational age (GA). This report describes a retrospective study from January 1, 1988 to December 31, 1993, of 34 patients with intact membranes who required emergency cervical cerclage after 20 weeks of GA, on observing significant cervical changes such as ‘cervix dilated at least 2 cm and bulging membranes’, in the Department of Obstetrics and Gynecology (Bichat-Claude Bernard Public Hospital, Paris, France). Eight patients were primigestae, and 3 had twin pregnancies. After 48 h resting under tocolysis infusion, emergency cervical cerclage (MacDonald technique) was performed with general anesthesia and prophylactic antibiotic administration. Out of 34 patients, 19 (73.1%) had a past history of one or more previous obstetrical events capable of causing cervical incompetence (CI). Mean duration of pregnancy at emergency cervical cerclage was 22.1 weeks of GA, and at delivery was 35.7 weeks of GA. The mean prolongation of pregnancy obtained was 13.9 weeks. There was a significant negative linear relationship between term at time of cerclage and the prolongation of pregnancy. In this series, 6 patients (17.6%) delivered before 28 weeks of GA, and 6 further patients (17.6%) delivered between 28 and 37 weeks of GA. Chorioamnionitis was observed in 5 cases (14.8%). Overall the neonatal survival rate was 86.5%, with 5 deaths among a total of 37 newborn. Two fetuses died in utero as a consequence of chorioamnionitis, 2 twins died shortly after birth at 24 weeks of GA, and 1 died after failure of emergency cervical cerclage (peroperative rupture of membrane). Out of 32 alive newborn, 7 were admitted to intensive care and were followed up at age 1 year with no signs of major handicap. On observing significant cervical changes with bulging membrane through an open cervix after 20 weeks of GA, an ‘aggressive’ multifactorial approach including cervical cerclage is legitimate and is associated with a satisfactory fetal survival rate with a minimum of maternal complications. However, in the absence of a controlled study and regardless of the major ethical problems this might entail, these beneficial effects described cannot be considered

ISSN:1015-3837    

DOI:10.1159/000264484

出版商:S. Karger AG    

年代:1997

数据来源: Karger

摘要:

Monozygotic (MZ) twins concordant for cloacal dysgenesis were diagnosed at 15 weeks’ gestation on ultrasound exam. The structural alterations result from abnormal morphogenesis of the cloacal membrane and contiguous anlage with resultant secondary changes. These defects are suggestive of teratogen exposure or an endogenous event early in gestation, resulting in MZ twinning and the development of a poly topic field defec

ISSN:1015-3837    

DOI:10.1159/000264485

出版商:S. Karger AG    

年代:1997

数据来源: Karger

摘要:

We describe a new case of mosaic isochromosome 20q revealed by amniocentesis. A 46, XX/46, XX, i(20q) chromosomic complement was indirectly confirmed by fluorescent in situ hybridization. Since control chromosome analysis performed on cord blood showed a normal karyotype, pregnancy was continued and resulted in the birth of a normal female infant.

ISSN:1015-3837    

DOI:10.1159/000264486

出版商:S. Karger AG    

年代:1997

数据来源: Karger

摘要:

At 28 weeks of amenorrhea, 1 fetus of a monoamniotic twin pregnancy died. Ultrasound and Doppler investigations of the surviving twin were normal. Three weeks later, endovaginal ultrasound and magnetic resonance imaging revealed massive bilateral cerebral ischemic necrosis in the surviving twin. In utero fetal blood sampling carried out before the termination did not reveal either anemia or thrombopenia. Current data suggest that cerebral or renal ischemic complications could set in immediately after the death of the first twin as a result of a period of acute hypotension. At least 2 weeks are necessary for them to be identifiable by ultrasound. It seems that they cannot be prevented by prompt delivery of the second twin.

ISSN:1015-3837    

DOI:10.1159/000264487

出版商:S. Karger AG    

年代:1997

数据来源: Karger

摘要:

Objective: 68,000 delivery records at Hutzel Hospital for a 9-year period. Ascertainment was based upon ICD-9 codes for limb defects, abdominal wall defects, and facial clefts. Transverse limb defects and gastroschisis were defined as cases, and nondismption anomalies served as controls. Statistical analysis for history of maternal cocaine use reported during pregnancy was performed by χ2 analysis and the odds ratio determined. Results: A total of 190 cases of limb anomalies, abdominal wall defects, and cleft lips were identified after exclusion criteria. Statistical analysis was performed on the 119 cases informative for maternal cocaine use during pregnancy. Seven of 34 vascular disruption cases had cocaine exposure reported versus 12 of 85 other malformations controls. The odds ratio for cocaine exposure and vascular disruption is 1.58 (95% confidence interval = 0.55–4.47). Conclusion: The putative association of prenatal cocaine exposure and vascular disruption birth defects remains unresolved, but the attributable risk is very likely less than the 3-fold odds ratio previously report

ISSN:1015-3837    

DOI:10.1159/000264488

出版商:S. Karger AG    

年代:1997

数据来源: Karger

摘要:

This case presents a woman with a fetus having a large hydrocephalus and other lethal malformations. The problem was how to avoid an unnecessary cesarean section at delivery because of the breech position of the baby. The solution was prenatal ultrasonographic-guided cephalocentesis after which a vaginal delivery could take place without any complications for the mother.

ISSN:1015-3837    

DOI:10.1159/000264489

出版商:S. Karger AG    

年代:1997

数据来源: Karger