Fetal blood sampling in midtrimester pregnancies.

Sonographically directed placental aspiration has been investigated as a method for obtaining fetal erythrocytes. The technique is generally successful and the fetal red cells are generally usuable for the prenatal diagnosis of the hemoglobinopathies.

Effects of human chorionic gonadotropin preparations on amino acid uptake and incorporation into protein in vitro.

Human chorionic gonadotropin preparations were tested for their effect on protein metabolism by cultured fibroblasts. Commercial preparations of HCG strongly inhibit amino acid uptake and incorporation into protein by a variety of human adult and fetal fibroblast lines, whereas, highly purified HCG is without such an effect.

New and future techniques in prenatal diagnosis.

Fetal evaluation may be accomplished in the future using techniques experimental at this time. These include direct visualization of the fetus by endoscopy, biopsy of fetal tissues, and indirect techniques accomplished in the laboratory. It is hoped that in the future technology may provide us with means to diagnose the abnormal fetus more accurately and rapidly than currently.

Thymus transplantation in patients with thymic hypoplasia and abnormal immunoglobulin synthesis.

Fetal thymus transplantation was performed in three patients with thymic hypoplasia with abnormal immunoglobulin synthesis, one patient with ataxia telangiectasia, and one patient with immunodeficiency with eczema and thrombocytopenia. All patients received transfer factor before transplantation of a fetal thymus i.p.

Prenatal diagnosis of homozygous beta-thalassaemia.

In two pregnancies at risk for homozygous beta+ and beta0 thalassaemia, fetal blood mixed with maternal blood was obtained by placental aspiration and was purified to over 90% purity by differential agglutination with anti-i antibodies. Study of globulin-chain synthesis showed absence of beta-globulin chain in both fetuses. The diagnosis of homozygous beta-thalassaemia was made and was confirmed after the pregnancies were terminated.

Lens changes in a galactosemic fetus.

The first child of a Spanish-American couple died presumbably from galactosemia. Early in the mother's fourth pregnancy, the parents' red blood cell levels of galactose 1-phosphate uridyl transferase were measured and both parents were found to be heterozygous (carriers) for transferase deficiency. A prenatal diagnosis of galactosemia in the fetus was made with the aid of amniocentesis and tissue culture.

Psychological sequelae of elective abortion.

A mild, short, depressive and guilt ridden period following abortion is quite common, but a severe psychological reaction is rare. The indication for the abortion and the preabortal psychological state of the patient are the two most important factors. Almost all reported instances of postabortion psychoses have occurred in patients who had severe preabortal psychiatric problems.

The psychological sequelae of abortion performed for a genetic indication.

Psychometric testing and psychiatric interviews were conducted on 13 families in which the women had undergone amniocentesis for the prenatal detection of a genetic defect in the fetus and, upon receiving positive results, elected to have a therapeutic abortion. The indication for amniocentesis was maternal age in two families, a previous child with Down's syndrome in one family, a previous child with a recessively inherited inborn error of metabolism in four families, and the mother being a carrier for an X-linked disease in six families. The incidence of depression following selective abortion may be as high as 92 per cent among the women and as high as 82 per cent among the men studied, and was greater than that usually associated with elective abortion for psychosocial indications or with delivery of a stillborn.

Ocular pathology of infantile Niemann-Pick disease. Study of fetus of 23 weeks' gestation.

A fetus of 23 weeks' gestation was aborted following the demonstration of sphingomyelinase deficiency (infantile form of Niemann-Pick disease) in cultured amniotic fluid cells that were obtained by amniocentesis. Histopathologic study of the eyes disclosed normal findings for the fetal age, except for fine lipid droplets in the inner plexiform layer of the retina. By electron microscopy, membranous cytoplasmic bodies (MCB) characteristic of lipid storage diseases were identified in many ocular tissues, including corneal epithelium and keratocytes, lens epithelial cells and fibroblasts of choroid and sclera, and in extraocular muscle.

Successful application of prenatal diagnosis in a pregnancy at risk for homozygous beta-thalassemia.

A Sicilian couple whose first child had homozygous beta-+-thalassemia requiring monthly transfusion requested prenatal diagnosis during the second pregnancy. Fully informed consent was obtained. The placenta was localized by ultra-sound at the 20th week of gestation, and was aspirated with a 20-gauge needle.

The center-satellite system for the wide-scale distribution of genetic counseling services.

A 6-year experience with a center-satellite system for the provision of comprehensive genetic counseling services to a large geographical area is described. A series of 12 satellite genetic clinics established throughout northern and central California have brought genetic counseling services to within a 2-hour drive for most patients. These satellite clinics are largely organized by local groups (such as National Foundation-March of Dimes chapters and county health departments) but are backed by the personnel and resources of the center at the University of California, San Francisco.

Mycoplasma contamination of cultured amniotic fluid cells: potential hazard to prenatal chromosomal diagnosis.

Amniotic fluid cell cultures were screened for mycoplasma contamination. Mycoplasma RNA's were observed in more than half the cultures examined. Karyotypic analyses of these contaminated cell cultures revealed a significant increase in chromosomal aberrations.

A pattern of craniofacial and limb defects secondary to aberrant tissue bands.

Seven infants have been studied who have a similar pattern of severe craniofacial and limb anomalies associated with aberrant tissue bands. The craniofacial anomalies consist of unusual encephaloceles, facial clefts, and cranial plus midfacial distortion; the limb anomalies consist of constrictions, amputations, and pseudosyndactyly. These defects are interpreted as being secondary to the early distorting and disruptive effects of aberrant tissue bands, the etiology for which is undetermined.

Male pseudohermaphroditism in a child with Down's syndrome.

A case of male pseudohermaphroditism in a child with Down's syndrome is reported. The patient had infantile testis, ambiguous genitalia, and no apparent internal female genitalia indicating a failure of either gonadal function or end-organ response.

Deletion from the long arm of chromosome 4 (46,XX,4q-) associated with congenital anomalies.

A congenitally malformed infant with a partial deletion of the long arm of chromosome 4 identified by Giemsa banding studies is described. The relationship of the anomalies to the chromosome abnormality is discussed.