[Biochemical and ultrasonic screening of chromosomal aneuploidies in the second trimester of pregnancy]. / Kromoszomális aneuploidiák biokémiai és ultrahangszürése a terhesség második trimeszterében.

For prenatal screening of chromosomal aneuploidies (primarily the most frequent Down syndrome) maternal serum AFP screening in the second trimester of pregnancy has been supplemented by the determination of hCG in Hajdú-Bihar county. In pregnancies at risk on the basis of biochemical tests, a thorough, aimed ultrasound examination for the detection of minor and major anomalies characteristic for chromosomal abnormalities was carried out. If both biochemical and ultrasound examinations were suggestive of high risk prenatal karyotyping was offered. During a two-years prospective study 14328 pregnancies were screened. Authors could detect 38% of Down-syndrome cases prenatally, 5 cases in pregnant women at age under 35 years and at the same time the number of amniocenteses increased only by 70. It was concluded that 66% of all Down syndrome cases could have been prenatally diagnosed if prenatal chromosome test were performed in all cases at high risk on the basis of screening tests and maternal age.

[Selective termination of the development of the defective fetus in discordant twin pregnancies]. / A beteg magzat fejlödésének szelektív leállítása fejlödési rendellenességre discordans ikerterhességekben.

Selective termination of the affected fetus in twin pregnancies was performed in the second trimester of seven pregnancies. The malformations included anencephaly/exencephaly (2 cases), hydrocephalus (1 case), thoracoabdominopagus of "B" and "C" cotwins (1 case), urethral obstruction sequence (1 case) and hygroma colli (2 cases). Intrauterine intervention on the affected fetus was done by transabdominal intracardial injection of 20% NaCl solution in the 15--24 weeks of gestation. All cases had dichorionic placentation. Unaffected co-twin infants were delivered at term with normal weight in 4 cases. In 2 cases the affected fetus was found in the lower gestational sac and both pregnancies, as well as the triplet pregnancy were lost 1--6 weeks and 3 weeks after the intervention, respectively. In the other cases, neither the mother, nor the survived fetus showed any complications. We believe that using hypertonic saline is lethal for the affected fetus but carries little or no risk either the other fetus or the mother, even if small amounts of the solution might inadvertently enter their circulation.

[Experience with chorionic villi sampling]. / Tapasztalataink chorionboholy-mintavétellel.

The authors discuss their experiences from 412 chorion villus samplings, (CVS), which they have done under four and a half years since 1985. They used eight types of instruments in performing their examinations and each instrument proved to be satisfactory in the gaining of chorion villus samples, suitable for further tests. They also discuss the bacteria found most frequently in the vagina on the basis of the examination and culturing of both vaginal and cervical fluid done prior to 151 CVS examinations and the effective method with which ascending infection can be prevented. They discuss a distributional pattern of their results based on the different indications for the CVS examinations, and the outcome of each of the pregnancies after CVS. In 377 cases they did direct karyotyping, in 30 cases DNA examination and in five cases enzyme determination also occurred.

[Prenatal diagnosis of cystic fibrosis based on DNA analysis]. / A cysticus fibrosis DNS analízisen alapuló praenatalis diagnosztikája.

25 families at risk of having a child with cystic fibrosis have been counselled about prenatal diagnosis by the use of linked DNA probes (xV-2c, pCS.7, Met D, Met H, pJ3.11 and KM 19). In 20 families one or more informative probes, in 3 cases only partly informative probes were found, and in 2 families there was no informative probe at all. In 9 cases prenatal diagnosis have been performed, 6 children have been born and confirmed to be free from cystic fibrosis and 3 terminations were carried out because of prenatal prediction of cystic fibrosis.

[Possibilities of prenatal diagnosis in hemophilia A based on DNA analysis]. / Lehetöségek a haemophilia-A praenatalis diagnosztikájára DNS analízis alapján.

Haemophilia-A is the most common bleeding disorder in man, resulting from a deficiency of the coagulant protein, factor VIII. The factor VIII gene is located at Xq28 and the disease is inherited as an X-linked recessive disorder. There is a possibility using DNA probes closely linked to the gene factor VIII to determine the genotype. The availability of factor VIII DNA probes has led to the detection of carrier females and first trimester prenatal diagnosis of haemophilia-A. The authors give a short account on their experiences with four DNA probes. Their studies were carried out in nine families who have affected individuals and plan another pregnancies in the near future. DNA analysis can allow first trimester prenatal diagnosis from chorionic villi taken at 8-10th weeks of gestation. In the case of a male fetus it is possible to determine whether the mutant gene is inherited or not. Till now seven prenatal diagnoses have been performed based on the chorionic DNA.

[Prenatal diagnosis of Hunter's disease]. / Hunter-betegség (MPS--II) praenatalis felismerése.

The authors give a short report about the first-trimester prenatal detection of Hunter's disease (MPS II) inherited as X-linked disorder. There is written about a family having one affected child with Hunter's syndrome. Chorionic villus sample was taken at 10th weeks of gestation in the new pregnancy of the mother. The sex of the fetus was a male determined by DNA analysis. The activity of sulphoiduronate sulphatase was very low. The enzyme activity was also extremely low in the cultured cells from amniotic fluid taken at 16th weeks of gestation. On the basis of these results the pregnancy was terminated at parents's request. The diagnosis of Hunter's disease was confirmed by measuring the enzyme activity of the cultured fibroblasts from the male fetus.

[In utero creation of a reno-amniotic shunt for the preservation of a hydronephrotic fetal kidney]. / Hydronephrotikus magzati vese megmentése in utero renoamnialis shunt alkalmazásával.

The authors wish to discuss the successful decompression treatment of a serious, fast progressing one-sided hydronephrotic fetal kidney (that also caused deformation of abdominal and thoracic organs) in a 29th week pregnancy. Under the guidance of ultrasonography they created a permanent link between the amniotic cavity in the uterus and the pelvis of the kidney. As a final solution a pyelo-ureteral anastomosis operation was performed on the newborn that was delivered on the 37th gestational week. The baby is 11 months old at the moment and both of her two kidneys are functioning perfectly.

Invasive intrauterine procedures in twin pregnancies discordant for fetal malformation.

Invasive intrauterine procedures in two twin pregnancies for exencephaly and multiple malformations are reported. In the first case, to ensure the development of the normal fetus, selective feticide of the affected fetus was undertaken by transabdominal intracardial injection of 20% NaCl solution. A healthy newborn infant with normal weight and a fetus papyraceus were delivered at term. In the second case, because of monoamnial placentation, the procedure was regarded too dangerous, therefore, only therapeutic amniocentesis was carried out to decrease the volume of amniotic fluid. The fetuses were delivered in the preterm period. The advantages of the procedure of selective feticide developed by the authors are also discussed.

First trimester chorionic villus sampling for DNA analysis.

Early prenatal diagnosis of cystic fibrosis (CF) has become possible after the identification of linked DNA markers on chromosome 7. Chorionic villus sampling (CVS) has made possible the first-trimester prenatal diagnosis of CF. We report our experience of 336 pregnant women between 8-12th week. Six different types of sampling devices have been used to get chorionic tissue. Our results proved that the quantity and the quality of the sample gained was the same irrespective of the method employed in obtaining them.

[Sex determination of the embryo by DNA studies of chorionic villi samples]. / Az embryo nemének meghatározása chorionboholy-mintából DNS vizsgálattal.

The first step in the prenatal diagnosis of X-linked genetic disorders is the determination of the sex of the fetus. A new method for this purpose is based on recombinant DNA technology. The authors give a short account on their experiences with a Y specific DNA probe. Fetal DNA was prepared from chorionic villi taken at the 8th-12th weeks of gestation. The DNA was hybridised with the Y specific probe. This probe was isolated from the 3,4 kilobase human repeat sequence derived from heterochromatin of the Y chromosome and had 1000 times more affinity for male DNA than for female DNA. The method based on hybridisation with the Y specific probe should facilitate first-trimester prenatal sex determination of X-linked genetic disorders.

[Ruling out fetal Sanfilippo's syndrome (mucopolysaccharidosis IIIA) in the first trimester of pregnancy]. / Magzati Sanfilippo A (mucopolysaccharidosis IIIA) betegség kizárása a terhesség elsö trimesterében.

The defect of the enzyme heparan sulfamidase is the cause of Sanfilippo A syndrome (mucopolysaccharidosis IIIA) which is an autosomal recessive inherited disease. Three children of a marriage couple who attended our genetical counselling died of this disease which at the moment is incurable. At the 10th week of the following pregnancy chorion villi analysis was carried out and normal values of the enzyme heparan sulfamidase were obtained. In view of this it was decided that pregnancy should continue. At the moment the child is one year old and clinical and laboratory findings also show that she is not affected.