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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.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.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.In our experience, the fetal haematocrit measurement remains the most reliable method to evaluate the severity of the haemolytic disease.

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.

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.

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%).

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.

Since the very start of using ultrasound to monitor pregnancy the information that the obstetrician has obtained from it has been great. Measuring the fetus (biparietal diameters, rump-crown length etc.) makes it possible to check development of the fetus in the uterus, as well as seeing the various organs and their placing and internal structure. Real time pictures make it possible to visualise the organs precisely from the point of view of their positioning and their internal structures. We report 12 cases of malformations of the central nervous system which were diagnosed in utero and we point out the value of early diagnosis in pregnancy. The 12 cases we found included four of hydrocephaly, one cyst of the choroid plexus, one hydrencephaly , two cases of holoprocencephaly and four cases of anencephaly. Since these malformations may be part of generalised malformations it is important to search for these others by ultrasound as well as by caryotyping and estimation of alpha-fetoprotein levels.

24 cases of non-immune feto-placental hydrops which were diagnosed by ultrasonography are presented. The precise etiology was possible in 21 of the cases using chromosome analyses, radiological assessments and carefully conducted post mortem examinations. The cause was maternal in 3 cases and due to fetal pathology in 18 cases, of which 5 were due to chromosome abnormalities. Three recessive autosomal syndrome, 9 malformations and in particular cardiac malformations and one twin pregnancy with transfusion from one fetus to the other were diagnosed. These features, which can be compared with those already in the literature, show that most of these cases of hydrops are due to genetic fetal defects and demonstrate how important it is to carry out chromosome analyses and systematic anatomo-pathological investigations. The results of these tests will indicate the way the doctors should look after the mother during pregnancy and how to deliver these mothers in subsequent pregnancies.

The authors report on 80 cases of the syndrome of a single umbilical artery (SUA) and compare the anatomo-clinical features with the abnormalities found on ultrasound. The clinical results confirm the information given in the literature which is that there is a higher incidence of poor intra-uterine fetal growth (36.4%), of prematurity (16.3%), of associated congenital abnormalities (42%) and of perinatal mortality (21.3%). Ultrasound examination makes it possible to screen for associated major fetal malformations (26.6%) and of most cases of intra-uterine growth retardation (28.3%). The ultrasound detection of the absence of one of the umbilical arteries and of the associated fetal abnormalities together with the techniques for sampling fetal cells now causes change in the approach to these high risk pregnancies on the cytogenetic level as on the perinatal handling of this syndrome.

Three cases of pregnancies complicated by feto-maternal anti-Kell iso-immunisation are presented, as well as a review of the literature. The evolution of new techniques for antenatal diagnosis has made it possible to have a new approach to this fetal pathology. Chorionic villus biopsy can be carried out in the first trimester of pregnancy when there has previously been a serious incidence of anti-Kell immunisation with a couple where the husband is heterozygous for the Kell antigen. In the second and third trimesters the surveillance of the patient is essentially dependent on ultrasound examination of the fetus and placenta, which makes it possible to detect hydropic changes, and also depends on blood sampling from the cord which makes it possible to assess by direct measurement the degree of fetal anaemia. Now pulsed Doppler must be added to these classical diagnostic techniques because it allows a gross estimation of fetal haematocrit levels.

This investigation was undertaken to determine whether examination of the placenta contributed to a better understanding of the causes of fetal malformations. Specific histological abnormalities were found in triploidy and lysosomal storage disorders. Placentas from trisomies only showed a marked a specific retardation of villous maturation. The most frequent placental abnormalities detailed in cases presenting major fetal malformations with normal karyotype were: velamentous insertion of the umbilical cord, placental hypotrophy, single umbilical artery, marginal retroplacental hematoma and generalized perivillous fibrin deposition. Examination of the placenta after fetal malformation can provide helpful informations in counseling the parents and the perinatal team in the follow-up of any future child bearing.

Based on the experience of 63 antenatal diagnosis of fetal uropathies, the authors discuss the diagnostic problems, practical implications of antenatal diagnosis and potential indications of in utero interventions. A correct diagnosis was established in 43 out of the 63 cases (70%). Diagnostic problems were encountered in differentiating between multicystic dysplastic kidneys and uretero-pelvic junction obstruction, dilatation due to reflux or from obstruction and from the lack of visualisation of small hypoplastic kidneys. Transitory urinary tract dilatations were found in 14 cases (22%) and can be responsible for additional false positive findings. Evaluation of the thoracic development and amniotic fluid must be part of the examination since they are related to severe obstructive uropathy. Repeated examinations are necessary in these cases. In evaluating the eventual benefit of an in utero decompression one should keep in mind the diagnostic difficulties but mainly the time of diagnosis of most uropathies when related to the time of its onset during morphogenesis and the absence of any reliable method of evaluation of fetal renal function. This leads the authors to consider that at the present time there are no real indication for in utero intervention. The major benefit of prenatal echography is to allow early recognition of major uropathies before postnatal infection worsens it prognosis.

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.

Amniofetography is a valuable tool for the diagnosis of fetal malformations. We have studied the effect of radiopaques dyes, containing large amounts of iodide, on fetal thyroid function. We have performed serial determinations of serum thyrotropin and thyroxine in seven newborn infants submitted to amniofetography. This work demonstrates that amniofetography induces a transient impairment of fetal thyroid function.