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Objective: To develop recommendations for prenatal diagnosis of congenital cytomegalovirus (CMV) infection and evaluate possible prognostic markers., Methods: We studied 237 pregnant women who had suspected or confirmed primary CMV infections by amniocenteses with or without funipuncture. Diagnosis of CMV was based on culture and polymerase chain reaction (PCR) done on amniotic fluid (AF) samples; fetal blood tests for CMV immunoglobulin M antibodies, PCR, and nonspecific biologic markers; and repeated ultrasound examinations. In cases of pregnancy termination, viral and pathologic examinations of fetuses were done. At birth, CMV infections were sought in newborns. Pediatric follow-up was scheduled for at least 2 years., Results: Of 210 fetuses and newborns correctly evaluated, 55 had CMV infections. Ten of 38 fetuses infected before 20 weeks' pregnancy had severe congenital disease. The global sensitivity of prenatal diagnosis was 80%. Best sensitivity and 100% specificity were achieved by PCR done on AF sampled after 21 weeks' gestation, respecting a mean interval of 7 weeks between diagnosis of maternal infection and prenatal diagnosis. Fetal thrombocytopenia was associated with severe fetal disease. Ultrasound follow-up missed two fetuses who presented with neurologic impairment due to CMV after birth., Conclusion: A reliable prenatal diagnosis of congenital CMV infection based on PCR on amniocentesis samples can be made after 21 weeks' pregnancy, after a 7-week interval between diagnosis of maternal infection and antenatal procedure. Ultrasound and nonspecific biologic parameters are not sufficient to identify all fetuses at risk of severe sequelae.

Aims and Methods: We report the case of a locally advanced adenoid cystic carcinoma of Bartholin's gland which required posterior pelvic exenteration, radical vulvectomy and ablation of the ischiorectal fossa in order to obtain tumour clearance with negative margins. Including this case, only three pelvectomies have been performed for this disease. This is the first reported case in which a controlateral unsuspected intravulvar metastasis was found on histology., Results and Conclusions: No consensus exists on the adequate surgical management of this particular disease. Nevertheless, a review of the literature and this reported case suggest that radical vulvectomy with negative margins should be preferred to wide local excision as the primary surgical procedure. It also suggests that inguinofemoral lymph-node dissection should only be performed when suspect lymph nodes are found at clinical examination., (Copyright 1999 W.B. Saunders Company Ltd.)

Background: Multiple pregnancies consisting of a complete hydatidiform mole and coexisting fetuses are relatively rare but may become more common due to the increasing use of ovulation-induction agents., Cases: We report on a twin and a triplet pregnancy, conceived using clomiphene citrate, with contrasting outcomes. The twin pregnancy resulted in a term delivery of a healthy singleton and the triplet pregnancy in a termination at 17 weeks followed by the development of choriocarcinoma., Conclusion: The few cases available suggest that a subgroup of complete moles follows a more benign course and can be managed conservatively, allowing the pregnancy to go to term with appropriate follow-up, whereas other cases follow a more aggressive course. Larger case series are needed to develop definitive protocols.

Background: Monoamniotic twinning is a rare event with a high perinatal mortality rate from cord accidents. To date, only a few cases have been reported in which cord entanglement was diagnosed with Doppler ultrasonography., Case: In a monoamniotic twin pregnancy, umbilical cord entanglement was diagnosed at 20 weeks' gestation by color flow Doppler ultrasonography. The entanglement was associated with growth discordance between the twins and subsequent death of the smaller fetus., Conclusion: The rarity of this condition hinders our understanding of the pathophysiology and development of management protocols.

Background: The early development of complications in twin-twin transfusion syndrome is a poor prognostic sign. For this reason, new techniques for intrauterine therapy are being developed: invasive options, such as selective feticide of one of the twins, have been reported., Cases: Two cases of twin-twin transfusion syndrome in the late second trimester were treated by selective feticide using vascular embolization to the more severely damaged fetus. In one case the embolized fetus was a hydropic recipient with a normal cotwin; in the other, the donor fetus was affected by bilateral hydrocephalus. These fetuses underwent ultrasound-guided embolization using a bolus of histoacryl injected into the umbilical vein and fetal heart. Both patients went on to deliver healthy singletons in the third trimester., Conclusion: In twin-twin transfusion syndrome of early onset, embolization may help one of the twins survive. This technique is neither time-consuming nor expensive and does not require a general anesthetic.

In order to launch a new transplantation program for Parkinson's disease (PD), we evaluated the safety and efficacy of fetal ventral mesencephalic grafts in 3 patients with advanced PD. Inclusion criteria and clinical evaluation followed strictly the Core Assessment Program for Intracerebral Transplantation. The transplantation procedure was based on the technique previously described by the groups in Lund (Sweden) and Créteil (France). The putamen contralateral to the site of predominant symptoms was unilaterally grafted in all patients. Magnetic resonance (MR)-based stereotactic guidance with multiplanar correlation was used to define 3 implantation trajectories in the precommissural, commissural, and postcommissural putamen. Fetal ventral mesencephalon was prepared from 6- to 8-week-old human embryos obtained from same-day abortions. Under general anesthesia, 8 deposits of 3 microliters of the fetal tissue were placed 1 mm apart along each implantation trajectory using a customized microsyringe and needle attached to the stereotactic frame. The patients recovered uneventfully from the neurosurgical procedure. Early postoperative MR clearly showed the implantation trajectories reaching the putamen in all patients. The follow-up period was of 12, 9 and 6 months, for each of the 3 patients, respectively. Clinical changes appeared between 3 and 6 months after transplantation and consisted of an increase in the 'on' periods and in quantitative bilateral improvement in the motor timed tests. There was an improvement of the Unified Parkinson's Disease Rating Scale score and an improvement of rigidity. Tremor was unchanged, and there was a slight and transient increase in dyskinesias. Neuropsychological follow-up revealed slight frontal alterations in 2 patients. Positron emission tomography demonstrated an increase of 18F-fluorodopa uptake in the grafted site. Adverse events include a reversible Cushing syndrome secondary to immunosuppression in 1 patient and a transient episode of confusion in another. The results of this study, designed as a prerequisite for a wider transplantation program, are in accordance with those previously reported by others and show that, using standardized neurosurgical techniques and methods of evaluation, transplantation is a reproducible and safe therapeutic approach which provides clinical benefits to patients with advanced PD.

Objective: We report our experience with 1251 chorionic villus samplings (CVS) performed by a single team of operators., Study Design: From April 1984 through August 1993, 1251 CVS were performed in 1236 pregnancies. The transcervical route was used in the vast majority and the sampling was performed during the 9th through 13th weeks of gestation in 1193 cases (96%). Follow-up was ensured to tabulate the pregnancy-related complications and fetal loss rate until 28 weeks' gestation. Pregnancy outcome was documented for all but 36 women (3%)., Results: Most of the tests (72%-891/1236 pregnancies) were performed for advanced maternal age (> or = 35 years). The percentage of each indication remained relatively stable, around 90% for chromosomal indications and between 8 and 11% for DNA studies. Samples adequate for diagnosis were obtained in one or two sessions in 1179 pregnancies (95%). The rate of spontaneous abortion possibly related to CVS was 2.5% (28/1092). Mosaicism confined to the placenta was found in 23 cases (1.8%). The pregnancy outcome was known in 1098 pregnancies. There were 10 perinatal losses (0.9%) and nine congenital malformations (0.8%). No transverse limb defects were observed. The rate of premature deliveries (4.6%) and of small for gestational age were comparable to the general uninstrumented population., Conclusion: CVS is a safe and effective mode of antenatal diagnosis when performed by a single team of experienced operators.

Between October 1985 and December 1993, 421 patients underwent fetal blood sampling for rapid karyotyping (426 samplings, 5 twin pregnancies). The aim of the study was to evaluate cordocentesis in terms of results, complications and additional information in this specific indication especially in case of abnormal pregnancy sonogram. The fetal loss rate possibly related to fetal blood sampling was 1.9%. Abnormal sonograms represented 91% of rapid karyotype indications. Chromosomal abnormalities were found in 9.5% of abnormal sonograms and in 16.9% of fetal structural anomalies (37 cases). The commonest chromosomal abnormality was trisomy 21 (11 cases). In conclusion, cordocentesis is a safe and reliable method for rapid karyotyping although it is associated with more risks than in other indications (congenital infections). The high rate of chromosomal abnormalities pleaded for ultrasonographic screening in a population usually not investigated by cytogenetic studies.

Objective: To assess the efficacy and safety of diagnostic funipuncture., Methods: Between October 1985 and November 1993, fetal circulation was accessed 891 times in 828 pregnancies. The technique was similar to that described in earlier studies. We did not make more than two attempts at the procedure in any session. Each procedure was recorded prospectively in a computerized data base. Data included information about indications, laboratory indices, gestational age, number of successful and failed punctures, duration of fetal bradycardia, duration of bleeding, ultrasonographic findings, follow-up of pregnancies, and perinatal outcome., Results: The most frequent indication was rapid karyotyping (48.9%), followed by risk of congenital infection (38.6%). The success rate of the method was high (98.6%). Most samples (97%) were pure fetal blood, undiluted by amniotic fluid. Transient bleeding was observed from the cord puncture site in 9.8% of the procedures. Sixty-three percent of prolonged bradycardia occurred in growth-retarded or congenitally malformed fetuses. Seven fetal and neonatal deaths (five pregnancies) occurred within 1 week after the funipuncture; the funipuncture indication was rapid karyotyping in four of these cases., Conclusion: Funipuncture performed by operators trained in ultrasonic needle guidance is a safe and reliable procedure.

Objective: Diagnosis and treatment of haemolytic disease of the fetus has considerably progressed since the introduction of Liley's diagram. Amniocentesis and cordocentesis have changed diagnostic and therapeutic options. Recently, some authors pleaded for restraint in diagnostic cordocentesis. In this context of relative controversy, we wanted to compare our results with those of the literature., Subjects and Methods: Thirty-nine pregnancies complicated by antigen incompatibilities were referred to our unit. The haemolytic disease was evaluated by the measurement of antibody titers, by spectrophotometry in the amniotic fluid, by measurement of fetal haematocrit in cord blood samples and by ultrasound examination. Sixty-four amniocenteses, 85 cordocenteses and 25 in utero transfusions were performed., Results: Alloimmunization anti-D represented 67% of the cases in our series of 39 pregnancies. Fifteen percent of the fetuses were antigen negative. One neonatal death after chorioamnionitis was observed after cordocentesis, the fetal loss rate related to the procedure was 1.2%, Six fetuses had a haematocrit below 30% at the first sampling; 9 other fetuses developed an anaemia later in pregnancy. Six fetuses underwent in utero transfusion. One of these fetuses had hydrops at the ultrasound before the procedure. Twenty-five in utero transfusions were uncomplicated in spite of the observation of one post-transfusional haematoma of the umbilical cord. The delta OD450 measurement did not predict the severity of fetal anaemia in all cases., Conclusion: In our experience, the fetal haematocrit measurement remains the most reliable method to evaluate the severity of the haemolytic disease.

Objective: To determine the feasibility of prenatal diagnosis of fetal cytomegalovirus (CMV) infection., Methods: Fifty-two pregnant women were investigated in our unit between October 1985 and July 1992. The diagnostic procedures included ultrasound examination, amniocentesis, and fetal blood sampling. Specific tests for CMV infection included specific immunoglobulin (Ig) M antibodies, viral culture, and amplification of CMV DNA by polymerase chain reaction. Nonspecific tests included white blood cell count, hemoglobin, hematocrit, platelets, and gamma-glutamyl transferase determination., Results: The combination of tests allowed an antenatal diagnosis of CMV in 13 of the 16 infected fetuses (sensitivity 81%). Amniocentesis allowed the diagnosis in 12 of the 13 antenatally diagnosed cases. The sensitivity of CMV IgM antibody detection in fetal blood was 69%. The culture of fetal blood was never positive. Thrombocytopenia was present in six cases, and ultrasound was abnormal in five., Conclusions: Amniotic fluid is the best sample to diagnose CMV infection, and fetal blood sampling and sonography are important to assess the fetal condition. Our experience underscores the importance of repetitive sampling.

The birth of a male baby was induced at 32 weeks. In utero, the child presented, inter alia, signs of hydrops, hepatosplenomegaly and anaemia. Two in utero transfusions for correction of the anaemia were performed at 28 and 29 weeks, respectively. The baby rapidly presented respiratory distress with mixed acidosis. Three hours after birth, pink urine was excreted. Signs of icterus necessitated phototherapy, after which photosensitivity occurred. Erythrocytes were fluorescent under long-wavelength UV light. The baby died 24 hours after birth, displaying severe acidosis, a diffuse haemorrhagic syndrome, and repeated brady-cardia which did not respond to isoprenaline. The analysis of porphyrins in urine, blood and faeces of the baby gave the following results: 1) uroporphyrin (I and III isomeric series) was increased in urine and faeces, with traces in erythrocytes and plasma; 2) heptacarboxyporphyrin I was found mainly in urine and much less in erythrocytes, plasma and faeces; 3) coproporphyrin I was increased in urine, erythrocytes, plasma and faeces, and 4) 5-aminolaevulinic acid and porphobilinogen in urine and plasma were within the reference ranges. Determination of the enzymes of haem biosynthesis in erythrocytes and lymphocytes showed that both parents possessed only 50% of the normal activity of cosynthase. A previously described point mutation in codon 73 was observed in one parent. Fatal cases of neonatal Günther's disease are extremely rare and such an observation, according to our knowledge, is probably one of the first described.

The purpose of this study was to find out whether there was a relationship between placental morphology and velocimetric measurements of the umbilico-placental circulation. The Doppler parameters measured at the placental insertion of the umbilical artery between 28 and 40 weeks in 145 normal pregnancies were analysed in relation to placental maturation, as evaluated by real-time ultrasonography. A significant relationship between gestational age and fetal measurements was observed in relation to the ultrasonographic progress of placental maturity. As the placental grading changed from immature to mature, no variations in Doppler parameters and placental thickness were noted. It is concluded that anatomical placental changes evaluated by ultrasonography do not correlated with the changes observed in Doppler parameters during the third trimester of normal pregnancies.

Placental and endometrial partial pressures of oxygen (PO2) were measured using a polarographic oxygen electrode during the first trimester of pregnancy. Between 8-10 weeks' gestation, placental PO2 levels were significantly lower (P less than .001) than endometrial levels. A significant (P less than .001) increase was observed for placental PO2 values measured at 12-13 weeks compared with those obtained at 8-10 weeks. We suggest that the increase of placental PO2 at the end of the first trimester is related to the establishment of continuous maternal blood flow in the intervillous space.

Thirty-two multifetal pregnancies were reduced to twin gestations. Our control group was composed of 32 spontaneous twin gestations. The comparison of these two groups did not show that the procedure altered obstetrical results as far as duration of gestation, birth weight and rate of dismaturity are concerned.

Twenty one pregnancies complicated by alloimmunization were managed by the use of intravascular method on an outpatient basis. One group was made of 9 women having had at least one pregnancy with a severely affected fetus. The other group was composed of 12 women without a previously affected infant; in 5 cases a situation at risk, either a transfusion (4 cases) or a severe obstetrical hemorrhage (1 case), was evidenced. Knowledge of fetal blood type (2 cases) and hematocrit determination obtained by fetal blood sampling allowed treatment individualized to the specific needs of each patient. In total 59 cordocenteses were performed, including 19 intrauterine transfusions.

Antenatal diagnosis of fetal goitre has been reported rarely. Once detected, however, it is important to evaluate fetal thyroid function so early treatment can be initiated if necessary. In reporting three new cases, the authors analyse the various methods of evaluation. The normal sequence of appearance of the various epiphyseal ossification centres is an indirect illustration of thyroid function and can be followed by ultrasound. Direct evaluation of hormone levels through cord blood sampling under sonographic guidance is a complementary method in doubtful cases. The mechanisms predisposing to the development of fetal goitres and the possible implications of these findings are also discussed.

Our institution admitted 39 ELBW (less than 1 kg) between November 1978 and December 1990. In our center, mortality has decreased from 61% to 33% within a decade. Improvements in neonatal intensive care have lowered the limit for these possible survival to 26 weeks of gestational age and 700g of birthweight. Morbidity is still very high. The mean hospital stay is 96 days. Perinatal asphyxia is frequent (3/4) as well as infections, nutritional problems and renal failure. Sixty-six % of this population suffer from respiratory distress syndrome which is the main cause of death. Morbidity and mortality are explained and compared to the recent literature.

Cordocentesis was performed in 234 pregnancies (241 fetuses) for rapid karyotyping. The indication was in 86% of cases: abnormal ultrasound. The abnormality encountered were IUGR (85 fetuses) or morphologic abnormality of the pregnancy (130 fetuses). The other indications were maternal mosaicism, mosaicism in cultured amniotic cells, maternal age (late booking), fragile X syndrome, confirmation of abnormal karyotype obtained by amniocentesis. The fetal karyotype was established in 97.5% (6 failures), 18 karyotypes were abnormal in the group "abnormal ultrasound" (208 pregnancies, 8.6%; 215 fetuses, 8.3%). No maternal complication were observed, there were 6 fetal losses (2.5%).

Two patients presenting a cervical trophoblastic implantation were treated with selective uterine artery embolization associated with dilatation and curettage. This interventional radiological maneuver helped greatly in the management of the bleeding caused by the ectopic pregnancies.

Multifetal pregnancy reductions were performed during the first trimester of pregnancy in 26 patients. Transabdominal intrathoracic KC1 injections were performed in 23 cases, and transcervical aspirations in 3 cases. There were 4 miscarriages (15%) during the second trimester, 18 pregnancies ended in 33 births, 4 pregnancies are going on uneventfully and are beyond 32 weeks. There was no maternal morbidity related to the procedure; fetal morbidity has been mild.

The first diagnostic cordocentesis was performed in our unit in october 1985. Our 4-year experience is reported: 391 cordocentesis were performed in 360 patients during gestational weeks 14 to 42. The first attempt was successful in 90% of the procedures, 4 samplings failed, there were 4 fetal deaths within one week after diagnostic cordocentesis, one of them appears to be directly linked to the punction. A transient fetal bradycardia was observed in 9.9% of the cases, bleeding occurred in 19% of the cases. The indications for cordocentesis were: risk of fetal infection, karyotyping, hemopathy, search for paternity, assessment of fetal acid-base status, biochemical dosage. Our data confirm that cordocentesis is a safe and reliable diagnostic procedure providing guidelines for management of the pregnancy.

We report our experience in first trimester antenatal diagnosis since 1984. Transcervical chorionic villus sampling (CVS) was performed in 498 pregnancies. The rate of abnormal pregnancies was 6%, the rate of chromosomal abnormalities (trisomy) in the indication group "maternal age" was 2%. The fetal loss rate (until 28 weeks) was 3.4% (17 cases), the procedure related loss plus the background loss was 2.4% (12 cases). For 92.8% of the patients a diagnosis was available after 1 CVS procedure. Ultimately an antenatal diagnosis was given to 99% of the women through a second CVS procedure or an amniocentesis or a cordocentesis. No maternal complication was observed.

The authors report the results of 468 foetal karyotypes performed on amniotic fluid or foetal blood samples after ultrasound discovery of foetal anomalies. A total of 46 chromosomal aberrations (10%) were detected. The rates of anomalies vary considerably according to the alarm sign; very high (greater than 30%) in cases of multiple malformations, foetal hydrops or foetal death, low (less than or equal to 2%) in cases of poly- or oligohydramnios and foetal growth retardation without detectable malformation. In addition to these chromosomal diagnoses, further investigations enabled in 9 cases the diagnosis of genetic autosomal recessive disorders. Our results which are comparable with those reported in the literature, demonstrate the importance of prenatal diagnosis in cases of pathological pregnancies, with regard to obstetrical and perinatal management as well as to genetic counseling.

The authors report the results of chromosomal analyses performed on 6235 amniocenteses and 559 choriocenteses. Whereas the frequencies of chromosomal anomalies observed respectively on amniocenteses and choriocenteses did not differ significantly, the comparison of the types of aberrations found revealed, in chorion villi, a relatively high proportion of lethal anomalies, never encountered in amniocyte cultures. Furthermore, chromosomal mosaicism was observed 10 times more frequently on chorion villi than on amniotic cells. These results are globally comparable to those reported in other surveys. In view of literature reports of discordances between fetal chorionic karyotypes, never found in amniocenteses, rapid karyotyping from chorion villi is not as reliable as from amniotic cells. Taking into account the risk of cytogenetic discordance specific to choriocentesis, it is recommended that this method be strictly limited to pregnancies with high genetic risk.

Ultrasonography of the neck in a 28 week-old fetus suggested the presence of a goiter. Since sonographic evaluation of epiphyseal ossification centers showed no delayed bone maturation, the fetus was considered to have an euthyroid goiter, that allowed amniocentesis to be performed. The fetus was sonographically followed from 32 to 36 weeks: the development was normal. At birth, hormonal tests confirmed an euthyroid goiter. The authors consider that bone maturation should be monitored in utero especially when a thyroid dysfunction is suspected, in order to detect severe disease and to prompt treatment.

We have measured the levels of alpha-feto protein in 127 samples of amniotic fluid, obtained in the course of antenata diagnosis, using the immunoelectrophoretic method of Laurell. The mean, the upper limit of normal and the extreme levels of alpha-feto protein in liquor have been calculated for each gestational age. The difficulties which have been met with in interpreting the results (false positives and false negatives) have been discussed.

Alphafetoprotein (AFP) and concanavalin A non-reactive alphafetoprotein determination and the acetylcholinesterase (AchE) qualitative test have been performed on amniotic fluid samples from 33 normal pregnancies, 44 pregnancies with fetal malformations and 8 normal pregnancies with elevated amniotic fluid alphafetoprotein (3 false positive AFP results, 5 contaminations with fetal blood). The validities of these three tests in detecting abnormal pregnancies are compared. The usefulness of the existing complementary tests in the detection of neural tube defects in a low neural tube defect incidence area is discussed. Risk figures for open spina bifida according to the prior risk situation and the results of maternal serum AFP, amniotic fluid AFP, AchE qualitative test and ultrasound examination have been calculated.

Prenatal diagnosis of cord defects by means of ultrasound examination is possible and highly accurate. Although this is a rare pathological finding, we report two cases in which umbilical cord pseudocysts were associated with trisomy 18. These observations underscore the need of umbilical blood sampling for establishing the karyotype in fetuses with such umbilical cord anomalies and the importance of careful examination of placentas and infants born with such defects.