Inv dup (15): prenatal diagnosis and postnatal follow-up.

A de novo inv dup (15) was diagnosed at amniocentesis. No physical abnormalities were detected after birth. The boy developed severe mental and motor retardation, which became obvious at 16 months of age.

[Chromosome studies of chorionic villi: experiences following 118 diagnostic interventions].

We summarize our experience with chorionic villi cultures. Cell growth and chromosome analysis were successful in all cases. A significant admixture of maternal cells in chorionic villi cultures can be excluded by comparison of fluorescence polymorphisms between maternal and embryonic chromosomes.

[Prenatal diagnosis from chorionic villi: results in Münster].

We report on our experience with the first 46 diagnostic chorionic villi samplings in Münster. A new echogenic plastic catheter is used. The observed abortion rate is in accordance with international experience.

Multiple congenital anomalies in a child born after prenatal diagnosis of trisomy 20 mosaicism.

The clinical significance of trisomy 20 mosaicism in amniotic fluid cultures has remained unclear so far. We report data on a child with multiple congenital anomalies born after a diagnosis of true trisomy 20 mosaicism in 65% of amniotic fluid cells. The child had generalized dysmorphic features, including facial dysmorphy resembling those of a child with Williams syndrome.

Antenatal assessment of fetal outcome in pregnant diabetics.

The predictive value of three parameters (amniotic fluid insulin and C-peptide, and HbA1) in prognosticating major neonatal symptomatology was investigated in 57 pregnancies of diabetic women. The prediction of a healthy neonate can be achieved with a 90% accuracy by measurement of the amniotic fluid insulin alone. The correct prognosis for a child with major neonatal problems due to maternal diabetes can be made with 70% certainty using the same method.

Fetal lymphangiectasia--another cause for a positive amniotic fluid acetylcholinesterase test.

A case of a fetal lymphangiectasia on the ventral aspect of the neck was detected prenatally by ultrasound examination. Polyhydramnios was present. AFP values in amniotic fluid and maternal serum were in the upper normal range.

[Sonographic diagnosis of holoprosencephaly in the 2d trimester].

Data on the sonographic diagnosis of holoprosencephaly in the second trimester are presented. Polyhydramnions was detected during outside ultrasound screening, and the lacking midline echo in association with hypotelorism and central face clefting allowed early diagnosis. The autopsy of the fetus confirmed the prenatal diagnosis, the parents subsequently had genetic counseling.

[Significance of hormones in the amniotic fluid. II. STH and corticoids].

We measured the concentrations of growth hormone and corticosteroids in the amniotic fluid of 50 pregnant diabetic women between the 33rd and 36th week of gestation. These values were compared with normal values obtained by amniocentesis in 275 healthy patients. In the amniotic fluid the concentration of growth hormone decreases during pregnancy.

[Changes in prostaglandins in endotoxin-induced shock in pregnant minipigs].

Six pregnant mini-pigs received a continuous endotoxin infusion of 1 mg/kg body weight. E.-coli-lipopolysaccharide, two control animals were treated in the same way without endotoxin application.

Sonographic demonstration of fetal sacrococcygeal teratoma.

Six cases of sonographically diagnosed fetal sacrococcygeal teratoma (SCT) are presented and illustrate the variable features of fetal SCT. The sonographic findings assisted the parents and perinatal team in making decisions, and in two of the cases the children survived after elective Cesarean section and prompt neonatal resection of the tumors. None of the patients showed signs of malignant degeneration of the teratoma or metastases.

Septicemia during pregnancy: a study in different species of experimental animals.

When Escherichia coli B6 lipopolysaccharide, 0.2 mg/kg of body weight, was infused into nonpregnant minipigs during a 5-hour period, the animals died after 12 to 16 hours as a result of endotoxic shock. When the same infusion was given to six pregnant minipigs at term, these animals died after only 3 1/2 hours.

Prenatal diagnosis of persistent common cloaca with prune belly and anencephaly in the second trimester.

We report the prenatal diagnosis of a fetus with persistent cloaca, prune belly sequence, and anencephaly. This fetus resembles the recently reported patient with prune belly and anencephaly. A syndromic diagnosis was not possible in either case, but the likelihood of a chance association also has to be regarded as low.

Prenatal diagnosis and perinatal management of a fetal ovarian cyst.

A case of a prenatally diagnosed fetal ovarian cyst is presented. The pregnancy was complicated only by polyhydramnios, and some degree of fetal bowel obstruction could be recognized on sonogram. The newborn was delivered vaginally in the 39th week of pregnancy, and the cyst was removed by laparotomy on the day of the delivery.

[Clinical picture in patients with 46,X,i(Xq) karyotype. Are there differences from Turner syndrome?].

Clinical presentation in 2 patients with 46,X,i(Xq)-Karyotype are described. In both cases no mosaicism could be detected. The two patients show the classical features of gonadal dysgenesis: short stature, sexual infantilism and primary amenorrhea due to streak ovaries.

Histochemical demonstration of ornithine transcarbamylase activity in fetal liver.

A histochemical technique for demonstrating ornithine transcarbamylase (OTC) activity in human and rhesus monkey fetal liver is described. The proportion of OTC-positive cells increases in fetal monkey liver between 130 and 150 days of gestation. The histochemical assay can be used to verify the prenatal diagnosis of OTC deficiency in the human fetus.

[Differential diagnostic procedure in sonographically detected fetal cystic hygroma].

A series of 5 consecutive cases of fetal cystic hygroma diagnosed prenatally in the second trimester by sonography within a year in an ultrasound screening program is presented. 3 fetuses had a 45,X karyotype, one fetus had a 47,XY,+21 chromosome constitution and in one case no cytogenetic abnormality could be found. Because there was a cleft palate present in this latter female fetus, it is possible that this was a case of the recently described malformation syndrome.

A monoclonal antibody micromethod for studying fetal lymphocytes: potential for prenatal diagnosis of inherited immunodeficiencies.

Using monoclonal antibodies and indirect immunofluorescence an easy, reliable, inexpensive micromethod for the quantitative analysis of fetal lymphocyte markers was developed. Monoclonal antibodies specific for identification of all peripheral T lymphocytes (OKT 3), the subclass of suppressor/cytotoxic T lymphocytes (OKT 8), and for B lymphocytes (OKla 1) were employed. This technique will permit in utero recognition of immunodeficiency states which alter the ratio of these cell types.

Investigation of nonimmune hydrops fetalis.

Fifty pregnancies complicated by fetal ascites and generalized edema are reviewed and their prenatal findings, obstetric management, and fetal outcome are discussed. From the myriad of maternal, fetal, and placental problems which are known to cause nonimmune hydrops fetalis, many different causes of the disorder could be identified in 84% of all patients studied by extensive prenatal and postnatal workup. Therefore, in only 16% of the cases was the nonimmune hydrops fetalis labeled "idiopathic.

[Early sonographic determination of hydatidiform mole with a simultaneously developed fetus].

The incidence of hydatidiform mole with an associated foetus is between 1 in 10,000 and 1 in 100,000 pregnancies. Two cases are presented which are diagnosed prenatally before the 22nd week of gestation. They illustrate the two possible forms of molar pregnancy: Type I is characterised by large hydropic villi in a major discrete portion of the placenta.

Chorion villi sampling (CVS) for prenatal diagnosis of genetic disorders: first results and future research.

Chorion villi sampling (CVS) in the first trimester of pregnancy has become available recently as an alternative method to second trimester amniocentesis for prenatal diagnosis of genetic defects. Currently there are six different tissue sampling techniques being investigated in different centers around the world, but there are very few trials in ongoing pregnancies. From chorionic villi material cytogenetic and biochemical studies as well as DNA analyses can be performed.