摘要:

Objectives: We have previously shown that Duchenne muscular dystrophy (DMD) can be diagnosed by fetal muscle biopsy and immunohistochemical staining showing the absence of dystrophin. In Becker muscular dystrophy (BMD), there is a variable dystrophin staining pattern. Study design: A 26-year-old, gravida 5, para 1, SAB 2, VIP 1, white female had a son with the diagnosis of BMD, with no other affected family members. In the current pregnancy, the male fetus inherited the same X chromosome. Results: Fetal muscle biopsy revealed no dystrophin, consistent with the diagnosis of DMD, prompting reanalysis of the sibling whose diagnosis was then changed to DMD. Conclusions: Molecular techniques in prenatal diagnosis in this case not only led to the diagnosis of a severe disorder in the current pregnancy, but changed the diagnosis in another child, allowing for more appropriate counseling of this couple.

ISSN:1015-3837    

DOI:10.1159/000264206

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Twenty-four women out of 7,875 pregnant women who enrolled in a prenatal screening program showed extremely low levels of unconjugated estriol (< 0.15 MOM). In 19 cases, intrauterine fetal death was reported. In 1 case anencephalus was detected. In the remaining 4 cases apparently normal healthy babies (1 female and 3 males) were born following uneventful pregnancies. Physical examination of the 3 boys at 4–6 weeks revealed mild ichthyosis compatible with the X-linked type. Two of them had a positive family history of X-linked ichthyosis. The examination of the girl did not reveal any significant findings. In both cases in which amniocentesis was performed, low levels of steroid sulfatase and arylsulfatase C were found. The prevalence of X-linked ichthyosis in this study is higher than previously reported, i.e. 1:1,300 males. Our results suggest that the prenatal screening program for neural tube defects and for Down’s syndrome is useful for the prenatal detection of X-linked ichthyosis as well. These results are in accordance with two recent reports. The implications regarding genetic counselling are discus

ISSN:1015-3837    

DOI:10.1159/000264207

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Needle embroyfetoscopy (NEF) permits direct visualization of the embryo/fetus with a specially designed 16-gauge double-barrel instrument sheath which is passed transabdominally into the amniotic cavity. We report the case of a woman with a MSAFP of 2.5 MOM who had declined amniocentesis. A targeted ultrasound examination of the spine revealed what appeared to be spina bifida in the lumbar sacral segments from L2 to S1. The mother elected to undergo NEF at 15 weeks gestation, which was successfully performed and revealed no evidence of a neural tube defect. NEF has a tremendous potential for both early prenatal diagnosis, and possibly fetal treatment.

ISSN:1015-3837    

DOI:10.1159/000264208

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Fetal responses in 7 cases of mid-trimester amniocentesis, complicated by inadvertent contact between the amniocentesis needle and fetal parts, were analyzed by retrospective videotape review. The incidence of inadvertent needle contact with the fetus was 0.4% (7 of 1,458). Responses included brisk withdrawal of the ‘involved’ small part in all cases, with the exception of a fetus with lumbosacral meningomyelocele, which failed to withdraw the foot upon direct contact with the needle. Neurologic examination was normal in all neonates except for one with meningomyelocele whose defect was at the L3–L5 level. This patient exhibited paralysis of intrinsic foot muscles and hip extensors. Surgical closure of the defect was performed 12 h after birth. At 2 years of age, no significant improvement in this patient’s neurologic condition was noted. Further research is needed to assess the validity of the response to needle contact as a predictor of neonatal neurologic com

ISSN:1015-3837    

DOI:10.1159/000264210

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Ten sets of diamniotic twins with discordant fetal growth (ultrasonographic estimated fetal weight difference > 25%) and abnormal amniotic fluid volume were assessed for fetal serum erythropoietin concentration (Epo). All 20 fetuses had a percutaneous umbilical blood sampling performed between 21 and 33 weeks gestation. Three sets of twins were dichorionic while 7 sets were monochorionic. In these 7 monochorionic sets a vascular communication between twins was demonstrated prenatally and postnatally. From 24 weeks gestation the smaller twin of the dichorionic group had a higher serum Epo than its larger cotwin; the larger cotwin’s serum Epo was within normal limits for singleton controls. All fetuses with documented vascular communications had higher serum Epo concentration than singleton controls. These findings suggest that determination of fetal serum Epo in the large cotwin may be a clue to the diagnosis of vascular communications between twins with discordant growt

ISSN:1015-3837    

DOI:10.1159/000264211

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

The management of fetal hydrops in thesecond trimester is changing as the underlying etiologies are better understood. We report a case which was diagnosed at 18 weeks gestation. There was no underlying anatomical abnormality. Fetal blood sampling confirmed a normal karyotype and there was no evidence of fetal infection. Bilateral thoracocentesis and paracentesis caused temporary improvement of the fetal condition but subsequent fluid reaccumulation was noted within the left pleural cavity. A pleuroamniotic shunt inserted at 22 weeks caused permanent resolution of the hydrops. The infant was normal at 1-year follow up.

ISSN:1015-3837    

DOI:10.1159/000264212

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Twenty eight cases of fetal hydrops are reported. A diverse aetiology was found. Fetal therapy was undertaken in 12 (42.9%). The overall survival rate was 36.8% (excluding elective terminations). However, when normal fetuses presenting from 20 weeks were considered, the survival rate was 64%. The results were combined with those of two other studies (making a total of 182 cases with fetal hydrops) to ascertain the value of pleural effusions in predicting outcome in such cases. In the 143 cases that did not end in a therapeutic termination of pregnancy, fetal pleural effusions predicted death (fetal or neonatal) with a sensitivity of 67%, a specificity of 53%, a positive predictive power of 68%, a negative predictive power of 52% and an overall accuracy of 62%.

ISSN:1015-3837    

DOI:10.1159/000264213

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

The aim of the study was to determine the outcome of fetuses with non-immune hydrops (NIH) following modern invasive investigation and therapy. This prospectively planned observational study involved 23 women with singleton fetuses in whom a diagnosis of NIH was made in our fetal medicine unit in 1 year. After investigation and counselling 15 of the 23 women opted for termination of pregnancy (10 chromosomal and 5 structural abnormalities) and there was 1 intrauterine fetal death before therapy was attempted. One case with diaphragmatic hernia was treated with shunting which successfully reversed the hydrops, the pregnancy continued to term, the malformation was surgically corrected but the neonate died from pulmonary hypoplasia. In the remaining 6 cases structural and chromosomal abnormalities were excluded. One had amniotic fluid drainage for polyhydramnios but despite this delivered at 30 weeks’ gestation and the neonate died on day 5. The remaining 5 cases had fetal therapy between 22 and 32 weeks’ gestation (4 shunt insertions, 1 blood transfusion) and in all the hydrops reversed and the pregnancy continued to at least 35 weeks’ gestation. All 5 neonates were discharged from hospital alive and well. Fetal therapy in cases of NIH with normal structure and karyotype was associated with a very good outcome. Giving a uniform poor prognosis is no longer justified because if other fetal abnormalities are excluded, in utero treatment, reversal of the hydrops and survival are often possible. We recommend urgent referral of these cases to a fetal medicine

ISSN:1015-3837    

DOI:10.1159/000264214

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

The loss of middle cerebral artery compensatory vasodilatation appears to be ominous in fetuses with absent end diastolic umbilical waveforms. The authors report a case with a loss of the ‘brain-sparing effect’ 24 h before fetal death. Current pathophysiological explanations are discus

ISSN:1015-3837    

DOI:10.1159/000264215

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

In a case-control controlled study of 86 women identified as having bilaterally ‘notched’ uterine arterial waveform patterns at 18 weeks, the presence of bilateral ‘notched’ uterine arterial waveforms at that time was associated with the subsequent development of hypertension and small-for-gestational-age infants, but the predictive value was poor. For those women in whom the bilateral uterine ‘notches’ were observed to persist to 24 weeks, the relative risk of developing proteinuric hypertension increased 14 times, and in these women the positive predictive value for the subsequent development of hypertension increased to 58.6% when compared with their matched controls. The identification of women with persistent bilateral uterine ‘notches’ provides a means of identifying women at significant risk of hypertensive and growth disorders at a stage when therapeutic intervention aimed at limiting the severity of the disease and its associated complications cou

ISSN:1015-3837    

DOI:10.1159/000264216

出版商:S. Karger AG    

年代:1995

数据来源: Karger