Interstitial deletion of the short arm of chromosome 3. Fetal pathology and exclusion of the gene for beta-galactosidase-1 (GLB-1) from 3(p11----p14.2).

A de novo interstitial deletion of the short arm of chromosome 3 was prenatally diagnosed in a male fetus, karyotype 46,XY,del(3)(pter----p14.2::p11----qter). The fetus had craniofacial dysmorphisms, a single transverse palmar crease, ulnar deviation in the wrists, cardiovascular anomalies, a slight ureteric dilatation and a mobile caecum. Our observations are compared with five other cases with interstitial deletion of the short arm of chromosome 3 to delineate further the proximal 3p deletion syndrome. The gene for beta-galactosidase-1 (GLB-1) has previously been assigned to chromosome 3(p21----q21). The absence of a gene dosis effect for GLB-1 in this study indicates exclusion of GLB-1 from 3(p11----p14.2).

Transabdominal chorionic villus sampling for fetal genetic diagnosis. Technical and obstetrical evaluation of 100 cases.

First trimester fetal diagnosis was established in 100 pregnancies at risk by transabdominal chorionic villus sampling (TA-CVS). Forty-eight per cent of the women were 35 years or more at the time of sampling. Using the double needle technique, both the aspiration and the diagnostic success rate were 100 per cent. The mean amount of villi aspirated was 28.2 mg (10-50 mg). The mean needle time was 3 min. Vaginal spotting appeared in 2 per cent of the women. Four women had therapeutic abortion due to abnormal findings and one for social reasons. Three fetuses with normal karyotypes were lost. Excluding the therapeutic abortions, the fetal loss rate was 3.2 per cent. The fetal loss rate in the amniocentesis control group (n = 200) was 3.6 per cent. The cytogenetic diagnosis was carried out by the direct preparation technique as well as by chorion villus cultivation. All karyotypes were confirmed by lymphocyte cultures from umbilical cord blood or heel blood from the newborn or from aborted fetal tissue. Transabdominal CVS is deemed a safe and easy tool for achieving chorionic villi in the first trimester.

Prenatal cytogenetic diagnosis after transabdominal chorionic villus sampling in the first trimester.

First trimester prenatal cytogenetic diagnosis was attempted in 350 pregnancies after transabdominal chorionic villus sampling. The cytogenetic investigation was performed using both a short-term method (24 h incubation) and cell culture. Adequate samples were obtained in 99.1 per cent and in all these cases the fetal karyotype was established. A chromosome abnormality was found in 2.0 per cent of cases. A discrepancy between the karyotype obtained after 24 h incubation and the karyotype in cell culture was observed in 2.3 per cent. Maternal cell contamination in the cultures was confirmed in 13 of 181 cases where the 24 h incubation revealed a male karyotype. Studies of culture morphology showed that colonies of convoluted cells may serve as a marker for contamination with maternal cells in culture. For the present, we recommend using a short-term method as well as cell culture for cytogenetic investigation until the problems with karyotype discrepancy and maternal cell contamination have been further clarified.

Transabdominal chorionic villi sampling for first trimester fetal diagnosis. First 26 pregnancies followed to term.

A consecutive series of 26 women followed to term after first trimester transabdominal chorionic villi sampling is presented. The clinical application of transabdominal chorionic villi sampling (TA-CVS) seems to have certain advantages, especially from the patients' point of view, but also in regard to successful sampling and to the complication ratio. The results in this clinical trial revealed no cases of abortions, no signs of placental damage and no cases of vaginal bleeding or infections.

Prenatal diagnosis of a 46,XX/47,XX, + 12 mosaic.

A case of true mosaicism 46,XX/47,XX,+ 12 was diagnosed prenatally. The pregnancy was terminated in the 21st week of gestation and the aberrant cell line was rediscovered in cultured fetal tissue. However, a detailed examination of the fetus did not disclose any significant physical malformation.

Transabdominal fine needle biopsy from chorionic villi in the first trimester.

A technique for sampling first trimester chorionic villi for prenatal diagnosis by transabdominal fine needle biopsy is described. Specimens of chorionic villi were obtained from 49 out of 58 women, a success rate of 84.5 per cent. No fetal or maternal complications were demonstrated in the period before abortion. The procedure is useful for obtaining fetal tissue for culturing, DNA analysis and direct chromosome analysis.

Hemoglobin A1c determinations in diabetic pregnancy.

To investigate the relationship of hemoglobin A1c (HbA1c) to average blood glucose concentration and to birth weight of infants of diabetic mothers, HbA1c was determined in 42 consecutive insulin-dependent pregnant diabetic women in the third trimester. HbA1c correlated significantly to the average blood glucose levels in the preceding 8 wk (r = 0.73, P less than 0.001). No correlation was found between HbA1c and the relative birth weight ratio (RBWR) for all newborn infants. However, in the major subgroups of pregnancies, White class B and C without prognostically bad signs in pregnancy (PBSP), HbA1c in the third trimester significantly correlated to RBWR (r = 0.59, P less than 0.01). In a subgroup of six pregnant diabetic women in whom HbA1c and blood glucose concentrations frequently were determined from the 13th to the 33rd gestational week, a relationship between HbA1c and the average blood glucose concentration of the preceding 8 and 12 wk in the individual pregnant subject was established. In spite of this correlation, HbA1c was found to be a poor predictor of the average blood glucose concentration in the individual patient. This indicates that HbA1c cannot satisfactorily describe the degree of diabetes control without simultaneous determinations of blood glucose. HbA1c determinations were found to be of value as an additional indicator of the quality of regulation during ambulatory control in diabetic pregnancy because an increase in HbA1c suggested an impairment of diabetic control. The perinatal mortality and morbidity of the infants of diabetic mothers were satisfactory in this series, as only one perinatal death, one nonserious malformation, and two cases of mild respiratory distress syndrome occurred among the 43 infants.

Chromosome studies in induced abortions.

PIP: Chromosome studies of 172 cases of induced abortions during 1967-1972 in Denmark using 212 cultures from fetal skin, placenta, and amniotic fluid cells showed 6 (3.48%) fetuses with aberations. The aberrations were: two 47, XY+C; one 47, XY+E; one 47, XY+G; one 46, XX/47, XX,+C; and one 46, XX/47, XX,+G. Besides these aberrations, tetraploidy was observed in cultures from amniotic fluid and membranes in frequencies up to 10%. Only 1 case of aberration was found in maternal age groups of less than 34 years (.7%) as opposed to 3 cases (27%) in 40+ groups. Average maternal age for total material was 26.5 years and for aberrations 33.6 years. Average gestational age was 12 1/2 weeks, with 10 1/2 weeks for aberrations. Sex ratio of males to females was .88 for abortions of the first trimester and 1.30 for second trimester.^ieng