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[Infectious fetal diseases. Prevention, prenatal diagnosis, practical measures].

Many congenital infections can produce foetal diseases and are sometimes responsible for major disablements. The most frequent infectious foetal diseases are toxoplasmosis, rubella and chickenpox. Diseases caused by parvovirus or cytomegalovirus are exceptional. Foetal blood sampling has considerably simplified the prenatal diagnosis and made it accessible to more medical centres; it has also widened the therapeutic possibilities and above all, it has considerably reduced the number of therapeutic abortions. It may well be that the development of molecular biology, which has the great advantage of permitting an earlier diagnosis, will in the near future make it possible not only to detect numerous monogenic diseases before birth, but also to diagnose some foetal infections. We might then hope that a much earlier treatment in utero will also be more effective.

Chickenpox↗

Dilated and contracted forms of primary endocardial fibroelastosis: a single fetal disease with two stages of development.

Left ventricular endocardial fibroelastosis was diagnosed by echocardiographic scanning in a fetus at 20 weeks' gestation. Repeated prenatal examination over the next 20 weeks' gestation showed the development of the left ventricle from a chamber with a dilated cavity to a small cavity with a very thick wall. These findings were confirmed at necropsy and by the absence of other morphological anomalies. The contracted form of primary fibroelastosis in the fetus must have followed an insult that prevented any further increase in the size of the left ventricular cavity.

Adult↗

Autoimmune thrombocytopenic purpura: maternal and fetal disease.

We have followed up 63 pregnancies in women with autoimmune thrombocytopenic purpura (ATP). Of these, 15 were previously splenectomized. The characteristics of the sample can be summed up as follows: average age 27 years (17-41); platelets at the beginning of pregnancy, mean 129.5 x 10(9)/l (range 16-488); platelets at delivery, mean 133 x 10(9)/l (range 8-477); PA-IgG at delivery, mean 320 ng IgG/10(7) platelets (range 10-1000); SPB-IgG at delivery, mean 262 ng IgG/10(7) platelets (range 10-1000). There were 30 spontaneous deliveries and 33 cesarean sections. Forty-two newborns had a platelet count within the normal range while nine had a platelet count less than or equal to 150 x 10(9)/l, while six had less than or equal to 100 x 10(9)/l and a further six less than or equal to 50 x 10(9)/l. The aim of this study is the evaluation of maternal risk and of possible feto-neonatal thrombocytopenia at birth. In this regard, the following parameters were considered: previous maternal splenectomy; the platelet count at the beginning of pregnancy; the platelet count and the titres of PA-IgG and SPB-IgG at delivery. Preliminary statistical evaluation of these parameters enabled us to identify a risk score. From this it was possible to obtain an optimum management of the final stage of pregnancy regarding the therapeutic approach and the timing of delivery.

Cesarean Section↗

Pregnancy in Jamaican women with homozygous sickle cell disease. Fetal and maternal outcome.

The outcome of 664 pregnancies in 297 Jamaican women with homozygous sickle cell (SS) disease over the period 1959-1984 was reviewed. Overall, the spontaneous abortion rate was 118 per 1000 pregnancies, the stillbirth rate 128 per 1000 births, and perinatal mortality 171 per 1000 births. There was a striking secular increase in both spontaneous abortions and stillbirths which was accounted for, in part, by a trend for abortions to increase with maternal age up to the age of 30 years, a greater proportion of patients in the high-risk 25-29 year age group occurring in the 1980-1984 period. Another factor contributing to the poor obstetric performance in the 1980-1984 period was probably an increased survival and pregnancy rate in high-risk patients. Seven women had pregnancy-related deaths giving a pregnancy mortality rate of 1.1%.

Adult↗

Normal values for human umbilical venous and amniotic fluid pressures and their alteration by fetal disease.

Umbilical venous and amniotic fluid pressures were measured in 68 human pregnancies at the time that cordocentesis was performed. Normal umbilical venous pressure was unrelated to gestational age and remained within a tight range (5.3 +/- 2.3 mm Hg, mean +/- SD). Fetuses with an elevated umbilical venous pressure had disorders consistent with either hepatomegaly or congestive heart failure. Umbilical venous pressure was significantly increased before treatment in two fetuses with immune hydrops; it rapidly declined with treatment. Neither gestational age nor umbilical venous pressure was significantly different in the groups that received and did not receive pancuronium. There was a strong relationship between amniotic fluid pressure and gestational age in normal pregnancy (r = 0.54, p less than 0.0001). Women with hydramnios had amniotic fluid pressures greater than control subjects (p = 0.0007). This investigation documents normal human amniotic fluid and fetal umbilical venous pressures. These measurements are altered by disease and may prove to be of diagnostic and therapeutic value in the future.

Amniotic Fluid↗

An unusual variant of congenital dyserythropoietic anaemia with mild maternal and lethal fetal disease.

An unusual variant of congenital dyserythropoietic anaemia is described presenting as mild haemolytic anaemia with multinucleated erythroblasts in the marrow of the proband. The outcome of her non-consanguineous pregnancy was a third trimester, in utero, fetal demise. The hydropic fetus had dyserythropoiesis with circulating multinucleated erythroblasts, and haemosiderosis. Re-evaluation of the proband revealed a variant of congenital dyserythropoietic anaemia with an inheritance pattern, and with morphological, serological and biochemical features which are not consistent with any of the three described variants of congenital dyserythropoietic anaemias.

Adolescent↗