Chorion biopsy in early pregnancy: A method of early prenatal diagnosis for inherited disorders

Abstract

Chorion biopsy was performed in 165 cases at 6-12 weeks of pregnancy, following an ultrasonic or embryo-fetoscopic chorion frondosum localization. One hundred patients had their biopsies taken immediately before induced abortion. In 39 cases abortion was carried out 5-10 days after biopsy. In 26 pregnant patients biopsy was performed for genetic reasons. Fetal sex was determined in 'native' smears from biopsy specimens for cytological investigation, using X-and Y-chromatin assays. Fetal sex diagnosis proved correct in all the cases. In 40 observations, the origin of the biopsy specimen was histologically checked. In 16 biopsy specimens, a number of enzymes were simultaneously assayed : ,t?-D-ghcosidase, /3-D-galactosidase, ,t?-D-hexosaminidase, /3-D-glucuronidase, a-L-fucosidase, 8-D-mannosidase, sphingomyelinase and arylsulphatase A. The levels of the above enzymes were compared to those observed in tissue cultures of amniotic cells obtained through amniocentesis at 16-18 weeks of pregnancy. The amniotic sac remained intact in all cases of chorion biopsy. If the pregnancy was maintained after the biopsy, no spontaneous abortions were recorded, and pregnancies resulted in the timely delivery of full-term healthy infants. Therefore, the method described is a valuable means of diagnosing inherited disorders, with promising applications in prenatal medicine.

Fetal Tissue Biopsy: Techniques and Indications

“…Recently this ap proach has been successfully used with smaller endoscopes [Kazy et al, 1982;Rod eck et al, 1983a;Gustavii et al, 1984], The biopsies are obtained under direct vision through aspiration needles or biopsy forceps [Kazy et al, 1982] passed down the operating channel of the fetoscope cannula. found that a combination of real-time ultra sound guidance and direct vision endoscopic biopsy yielded villi with a high degree of reli ability (>95% ) without maternal tissue con- Fig.…”

Aspects of the History of Prenatal Diagnosis

“…in which they had considerable success in obtaining tissue, in preventing pregnancy loss, in diagnosis of sex. and also in several biochemical diagnostic analyses [26]. Two British groups reported using real-time ultra sound and a more flexible and even narrower (1.5 mm) biopsy instrument in the diagnosis of the hemoglobinopathies, through molecu lar analysis [27.…”

Ethical Issues in Intrauterine Diagnosis and Therapy

“…Newer techniques, particularly the use of chorionic villus sampling [1] during the first trimester of pregnancy, may advance the time of accurate diagnosis. If this technique proves to be safe, it will allow for earlier detection of genetic and chromosomal disor ders.…”