Carlo Valenti

PRENATAL DIAGNOSIS OF TAY-SACHS DISEASE

Abstract Uncultured cells and fluid collected by amniocentesis during the second trimester from a mother of a child with Tay-Sachs disease were shown to have trace amounts of hexosaminidase-A activity. Accordingly the pregnancy was terminated. Biochemical and morphological studies of the aborted fetal tissue confirmed the prenatal diagnosis of Tay-Sachs disease.

FETAL BLOOD-SAMPLING IN UTERO

Abstract A fetal blood-sample, adequate for the study of haemoglobin synthesis, can be obtained by aspiration of the anterior placenta. In a preliminary trial, the procedure was successful in 58% (eleven) of the nineteen cases and seemed to be safe.

PRENATAL DIAGNOSIS OF β-THALASSÆMIA AND SICKLE-CELL ANÆMIA: Experience with 24 Cases

Abstract Prenatal diagnosis of β-thalassaemia and sickle-cell anaemia was attempted in 24 pregnancies. Adequate amounts of fetal blood (for studying globin-chain synthesis) were obtained in 22 cases. 4 cases of homozygous β-thalassaemia and 2 of sickle-cell anaemia were diagnosed. The difference between the homozygous and non-homozygous states was well defined. Fetal bleeding from cord puncture and amnionitis resulted in the loss of three fetuses, and methods to avoid these complications are being devised. It is concluded that prenatal diagnosis of disorders of β-globin synthesis is feasible.

Endoamnioscopy and fetal biopsy: A new technique

Abstract A new technique is described by which tissue biopsies were obtained under direct vision from human fetuses during the second trimester. Direct visualization of the fetus in utero by a surgical endoscope, if proved safe by further experimentation, will expand considerably the field of prenatal genetics, to encompass conditions not diagnosable by amniocentesis. In selected high-risk pregnancies, fetal cytogenetic and biochemical studies may be performed better on tissue biopsy specimens than they have been on amniotic fluid cells obtained by amniocentesis.

Antenatal detection of hemoglobinopathies. A preliminary report.

Abstract A surgical endoamnioscope (laparoamnioscope) was used to visualize the fetus and obtain fetal blood and skin biopsy specimens. This procedure, if safe, might be used not only for in utero detection of hereditary anemias and other genetic disorders but also for intrauterine therapy.

Effects of uremia and chronic hemodialysis on the reproductive cycle

Abstract Abnormal menstrual patterns in 22 women with chronic renal failure are presented. In 4 of these women, ovulatory function was evaluated. Three of the 4 women subjected to the ovulatory study were receivingg maintenance hemodiailysis therapy and the fourth patient studied had severe urenal failure but was receiving medical management only. The nature of the menstrual abnormalily in all 23 women was correlated with the degree of renal failure as estimated by creatinine clearance, endogenous and/or effective. Ovulatury cycles were demonstrated in one woman receiving maintenance hemodialysis therapy. On the basis of three of the four parameters studied, another woman receiving maintenance hemodialysis therapy probably ovulated. Contraceptive therapy is recommended for women in the childbearing age group receiving maintenance hemodiaysis theapy.

Caveats of antenatal diagnosis of Tay-Sachs disease

Abstract The heat denaturation method for N-acetyl-β- d -hexosaminidase A (Hex A) should be used solely for Tay-Sachs disease (TSD) carrier detection of the Ashkenazi Jewish population. All suspected carriers, pregnant women, and persons with debilitating disorders ought to be rechecked, with the use of leukocyte preparations for the Hex A assay, with both heat denaturation and electrophoretic methods. The antenatal diagnosis of TSD should be based on the complete absence of Hex A in amniotic fluid and cultured amniotic cells as determined by procedures which separate Hex A from its isoenzymes, e.g., electrophoresis. When time is a factor, as in advanced pregnancy or when cultures fail to grow, such electrophoretic methods yield Hex A values for amniotic fluid itself which are in concordance with those found for cultured amniotic cells.

Prenatal sex determination.

Abstract Prenatal sex was diagnosed by the sex chromatin and the Y fluorescent body techniques simultaneously applied to uncultured amniotic fluid cells obtained by amniocentesis in 111 cases during the second trimester of pregnancy and in 6 cases at term. The accuracy of the sex chromatin scoring alone, of 97.5 per cent, was not improved by association with the Y method, which offered incorrect findings in 6 out of 57 phenotypically male fetuses and in 1 of 60 phenotypically female fetuses.

Acute monilial infection as a cause of death

Abstract 1. Four deaths in gynecologic and obstetric patients from septicemia due to C. albicans have been presented. 2. The predisposing factors of this disease as well as the methods and problems of diagnosis have been discussed. 3. The specific therapy for septicemia due to C. albicans has been outlined.

Cytogenetic analysis of abortuses following maternal rubella

Abstract During an epidemic of rubella, the chromosomal complement of the conceptus was analyzed in 7 cases of therapeutic abortion. Tissues from fetal parts and/or placenta were studied. No significant chromosomal aberrations were observed.