[Methods for obtaining fetal blood and its characterization]. / Sposoby polucheniia krovi ploda i ikh osobennosti.

Fetal blood was collected in 83 women, 71 of these before abortions and in 12 of them with diagnostic purpose. Cardiocentesis was used in 31 cases, cordocentesis in 52. Obstetrical situation was analyzed and fetal heart beat recorded during the procedure. Blood group and rhesus appurtenance were determined in blood samples, Kleinhauer-Batke test was carried out, karyotype, HLA phenotype, and DNA analyzed. A positive result was found dependent on the adequate assessment of an obstetrical situation during fetal blood collection, as well as on equipment resolution power and physicians' experience. The possibility of practical use of cordo- and cardiocentesis is discussed with due consideration for these factors.

[Value of early amniocentesis for prenatal diagnosis in the first trimester of pregnancy]. / Znachenie rannego amniotsenteza dlia prenatal'noi diagnostiki v I trimestre beremennosti.

For the prenatal diagnosis of the fetal status, amniocentesis was performed in 9-12-week pregnancy in 31 females at risk for birth of a baby with chromosomal abnormalities and congenital malformations of the central nervous system. There were no difficulties in carrying out the procedure. A balanced translocation-bearing female was found to have a fetal chromosomal abnormality. Her pregnancy was interrupted at the 11th week; the prenatal diagnosis was evidenced by cytogenetic examination of the abortion specimen. The amniotic fluid alpha-fetoprotein estimated by radioimmunoassay ranged from 15-18 to 550-620 ng/ml. The findings suggest that early amniocentesis may be useful in the prenatal diagnosis of the fetal status and further evidence should be accumulated.

[Ways of reducing perinatal morbidity and mortality due to hereditary pathology]. / Puti snizheniia perinatal'noi zabolevaemosti i smertnosti, obuslovlennykh nasledstvennoi patologiei.

The paper presents different ways of preventing the perinatal morbidity and mortality due to genetically predisposed abnormalities, such as environmental protection; definition of the factors having a mutagenic influence on the female; family planning, medico-genetic advisory. It also outlines the methods of perinatal diagnosis, which is now the most effective tool for birth prophylaxis of a baby with a hereditary abnormality.

[Medical history of female carriers of chromosome aberrations]. / Osobennosti anamneza zhenshchin-nositel'nits khromosomnykh perestroek.

The incidence of extragenital and gynecologic diseases, surgical procedures and menstrual, gestational and family histories have been evaluated in 50 female carriers of balanced chromosomal rearrangements (index group) and 33 women without karyotype abnormalities (control group). This study provided criteria for karyotype testing in women. Counseling guidelines were recommended for female carriage of chromosomal anomalies. These recommendations depend on karyotypic presentations of the anomalies in a carrier: alternatives are prenatal diagnosis of the fetal karyotype and adequate contraception (in robertsonian translocation involving homologous chromosomes).

[Artificial late abortion for medical genetic indications]. / Iskusstvennoe preryvanie beremennosti v pozdnie sroki po mediko-geneticheskim pokazaniiam.

Late abortions have been induced for genetic indications in 96 women using intra-amniotic administration of 20% sodium chloride or Enzaprost. The results were compared within this group and with a control group of 90 women whose pregnancies were terminated for other indications at similar dates and with the same agents. The use of 20% sodium chloride was associated with significantly higher blood loss and greater lengths of abortions. Patterns and rates of complications were comparable in both groups. These data suggest a utility of 20% sodium chloride and, especially Enzaprost, in late pregnancy termination for genetic indications.

[Evaluation of diagnostic potential of various methods of chorionic sampling in the first trimester of pregnancy]. / Otsenka vozmozhnostei razlichnykh sposobov polucheniia tkani khoriona v I trimestre beremennosti.

Potentials of the most common chorionic sampling methods have been examined: transcervical biopsy (TCB) (n-65), transcervical aspiration (TCA) (n-63) and transabdominal aspiration (TAA) (n-10). These procedures were done in outpatient settings at 6-12 week's gestation with sonographic guidance using accepted methodologies. TCB and TCA yielded 14.3 mg and 27.5 mg of a sample, respectively. The chorionic sample obtained with TAA was at best 3 mg. The incidence of successful chorionic sampling was 92.4% for TCB, 76.1% for TCA and 80.0% for TAA. Spontaneous abortions occurred after TAA (7.9%) and combined transcervical procedures (10%). These results suggest a potential of TCB and TCA in first-trimester prenatal diagnosis, but TCB has a number of advantages. TAA is a promising technique which, however, requires further sophistication.

[The prenatal diagnosis of Herlitz's borderline epidermolysis bullosa letalis]. / Prenatal'naia diagnostika letal'nogo pogranichnogo bulleznogo épidermoliza Gerlittsa.

Methods of morphologic prenatal diagnosis permit optimizing the medicogenetic prognosis thus preventing the birth of patients with severe incurable forms of congenital bullous epidermolysis and preserve normal pregnancy in risk-group females. Studies on the estimation of the prognostic and prophylactic value of methods for the prenatal diagnosis of congenital dermatoses are necessary.

Fetal skin biopsy in prenatal diagnosis of some genodermatoses.

Various methods of obtaining fetal skin for prenatal diagnosis of certain autosomal-recessive congenital genodermatoses have been assessed. An attempt was made to obtain fetal skin by fetoscopy in 15 patients prior to pregnancy termination for a variety of medical reasons at 18-26 weeks. Specimens were obtained only in five cases (8 successful attempts out of 48). In twelve cases, of which five had a history of a child with junctional (Herlitz type) or dystrophic (Hallopeau-Siemens type) epidermolysis bullosa or non-bullous congenital ichthyosiform erythroderma at 16-25 weeks of pregnancy, fetal skin was obtained without fetoscopy under direct ultrasonic control. Specimens were obtained in all cases (33 successful attempts out of 39). In three cases, fetal pathology was diagnosed by the method of semi-thin and ultra-thin skin sections, and the respective pregnancies were terminated.

[The obstetrical aspects of amniocentesis and chorionic biopsy]. / Nekotorye akusherskie aspekty amniotsenteza i biopsii khoriona.

Threatened abortion, a history of operation or tumor-like masses of the uterus and adnexa were seen in 70 women who underwent amniocentesis or chorionic villus sampling for prenatal diagnosis. A control group comprised 40 women with similar obstetric risks who refused to have the invasive studies done. Evidence has been obtained to indicate that, with certain provisions, amniocentesis and chorionic villus sampling may be employed in situations which are regarded as contraindications.

[Prenatal diagnosis of several hereditary skin diseases]. / Prenatal'naia diagnostika nekotorykh nasledstvennykh zabolevanii kozhi.

Twenty-two control women and 5 women at risk for delivering a baby with Brocq's ichthyosiform erythroderma or fatal epidermolysis bullosa were investigated in order to make prenatal diagnosis of inherited fetal skin diseases. Fetal skin abnormalities were detected in 3 of the 5 high-risk patients, and their pregnancies were terminated. There was a spontaneous abortion with a normal fetus in 1 case. In one woman, pregnancy progressed to term delivery of a normal girl. Methodologic aspects of obtaining fetal skin samples and the results of their morphologic studies are discussed.