Harlan R. Giles

Intrauterine Fetal Sex Determination by Radioimmunoassay of Amniotic Fluid Testosterone

Amniotic fluid testosterone levels were measured by a sensitive and specific radioimmunoassay technique from 75 term pregnancies and from 57 pregnancies prior to 20 weeks gestation. Statististically significant differences (p < 0.05) were found between levels for term males (123 pg/ml) and term females (63 pg/ml) and between less than 20-week males (176 pg/ml) versus less than 20-week females (60 pg/ml). However, the hormone levels between term males and less than 20-week males were not significantly different from each other, and, similarly, levels between term females and less than 20-week females were not statistically different. In this study, the sex of 37 out of 38 male fetuses and 19 out of 19 females less than 20 weeks gestation could be correctly predicted solely on the basis of amniotic fluid testosterone levels. The implications are apparent for genetic counseling by using this rapid methodology for intrauterine sex determination instead of, or in addition to, full chromosome analysis.

The association of maternal and neonatal thrombocytopenia in high-risk pregnancies

In this study of 136 women with pre-eclampsia, eclampsia, placenta previa, or abruptio placentae, 21 mothers were noted to have thrombocytopenia. Seventeen of the 21 were in the pre-eclampsia group. Of the 21 thrombocytopenic mothers, nine were associated with thrombocytopenia in the children, seven children had normal platelet counts, and five had no counts performed. Eight of the nine thrombocytopenic neonates were associated with pre-eclampsia in the mother, and five of these were not believed to have disseminated intravascular coagulation as the etiology of the platelet defect. The results suggest that thrombocytopenia is common in high-risk pregnancies in both the mother and the baby. However, the etiology of the platelet defect cannot be easily explained on the basis of a hypercoagulable state.

Polyamines in amniotic fluid, plasma, and urine during normal pregnancy

Polyamines have been implicated as markers of cell kinetic parameters. Putrescine and spermine were elevated in the urine of women with normal pregnancies. Particularly striking was the over 75-fold increase in spermine excretion. Putrescine was more than twofold that found for normal women. In several patients followed serially during pregnancy to assess the temporal pattern of the urinary excretion of polyamines, it was found that the highest levels of all three polyamines occurred at 12 weeks of gestation. In amniotic fluid, putrescine was higher prior to 30 weeks of gestation whereas spermidine was significantly higher at or beyond 30 weeks of gestation. Spermine was relatively high in both groups. Studies are ongoing to assess whether alterations from these normally elevated patterns will occur in the fluids of pregnant women at high risk for abnormal fetal development.

A simple, rapid method for prenatal detection of defects in propionate metabolism.

Incorporation of radiolabel from propionate‐l‐i4C into protein (TCA insoluble material) in fibroblasts or amniotic fluid cells, provides a rapid, simple means of detecting fetuses with inborn errors of propionate metabolism using small numbers of cells. Controls were easily differentiated from mutant lines over differing media pH conditions. This method was successfully used to diagnose correctly a normal fetus at risk for methylmalonic acidemia. This method can be used as an adjunct in diagnosis, but cannot replace direct enzyme analysis.

X‐short arm deletion gonadal dysgenesis in two siblings due to unique translocation (Xp‐;16p+)

A family demonstrating short arm deletion of the X chromosome as a consequence of X‐16 balanced translocation in the mother is reported. The two Xp‐ sisters exhibit clinical signs of gonadal dysgenesis, while the balanced carriers are phenotypically normal. To our knowledge this represents the only example of both the balanced carrier state for an X translocation and its genetic consequence occurring in the offspring, as well as the involvement of X‐16 interchange. Literature data of 37 additional cases of verified X translocations are discussed.

The Arizona high-risk maternal transport system: an initial view

Abstract There are two Level III Maternity Centers in Arizona at the present time. A statewide system of maternal transport to these two centers exists as part of the Arizona Perinatal Program, and the characteristics of the first 357 maternal transports to one of these centers (Arizona Medical Center, Tucson) are reported herein. The manner in which the Program was developed is described. It is our hope that this overview of our initial experience will be of interest to those persons developing a graded-care program for high-risk matermal patients.

Balanced translocation karyotypes in patients with repetitive abortion: Case study and literature review

Cytogenetic studies were conducted upon 100 consecutive couples with abortions. Eight balanced carrier translocation karyotypes were discovered (8%): three cases of Robertsonian translocations and five reciprocal translocations. Two structural variant karyotypes and a poly-X mosaic were also found. A review of the literature on repetitive abortion revealed 82 balanced translocations in 1,331 couples, a rate of 6.2%. Cytogenetic studied should be routine for patients with repetitive abortion. In the pooled series, 3.7% of couples with translocation had wastage, including some with normal offspring; 9.2% had malformed offspring; 62% of the carrier couples lacked the malformation history. Seventy-four percent of the translocations were reciprocal; risk rates for imbalanced progeny were undefined for 90% of the carrier couples. Only 11 imbalanced conceptuses were demonstrated cytogenetically in 262 pregnancies of the carrier group.

Comparison of B-mode ultrasonography and computed tomography in gynecologic cancer

Abstract Fifteen patients with gynecologic malignancies were studied prospectively to determine the relative effectiveness of B-mode ultrasonography and abdominal computed tomography (CAT) scans in detecting and measuring the extent of tumor. All patients underwent surgical procedures to evaluate tumor size. In 8 of 12 patients with tumor present at surgery there was complete agreement between the scans and surgical findings. There were two false negative sonograms and two false negative CAT scans, but in no patient were both scans falsely negative. Three other patients had negative scans; at laparotomy no residual disease was detected. Considering the greater cost and time requirement of CAT scans, our results suggest that ultrasonography is a more efficacious method of following abdominal and pelvic tumor size in patients on therapy. The CAT scan can be used to increase diagnostic confidence and may be the noninvasive procedure of choice for the diagnosis of intrauterine tumor masses.

Comparison of ultrasonic and indium-111-bleomycin scanning of gynecologic tumors

Abstract Fifteen patients, 10 with ovarian carcinoma and 5 with endometrial carcinoma, were included in a prospective study of indium-111-bleomycin and ultrasound diagnostic scanning techniques between September 1975 and November 1976. Twenty-two scans were carried out with each imaging technique. With each of these diagnostic modalities, two studies were found to be inaccurate. However, the scanning procedures were found to be complementary and in no one patient were the indium-111-bleomycin and ultrasound studies both misleading. We propose that both techniques be used for the initial evaluation of patients with ovarian or endometrial malignancies and in subsequent follow-up examinations for indentification of response to treatment. When optimal ultrasound scanning cannot be achieved because of poor patient cooperation (i.e., consistently incomplete urinary bladder filling or excessive pain on abdominal compression), then the indium-111-bleomycin scan may supplant the former technique for follow-up of patients with known pelvic and abdominal disease.

Propionate metabolism in fetal livers of 15 to 19 weeks' gestation

Extracts of hepatic tissue obtained from saline-induced abortuses were analyzed for methylmalonyl CoA carbonylmutase (MM) and propionyl CoA carboxylase (PC) activity. MM activity was similar to control values, which suggests that abortion material may be used to confirm the prenatal diagnosis of methylmalonic acidemia. Confirmation of a presumptive propionic acidemia diagnosis is more tenuous due to the instability of PC and the possibility that saline may induce PC activity.