Diagnosis of fetal sex in a sex-linked hereditary disorder

Antenatal Determination of Fetal Blood Groups

“…The finding that a correct prediction of fetal sex can be made from examination of liquor amnii in the antenatal period confirms earlier reports such as those of Riis and Fuchs (1960), Serr and Margolis (1964) and Amaroze et al (1966). They refer to possible applications of the findings in relation to selective abortion in sexlinked disease.…”

Human Genetics and Genetic Enhancement

“…The technique of amniocentesis was first introduced for prenatal diagnosis in the 1950s for rhesus iso-immunisation (Bevis, 1953), and subsequently it became a route for treating this condition in the foetus by intra-peritoneal blood transfusion (Liley, 1961(Liley, , 1963. In the 1960s amniocentesis was used to analyse sex chromatin (Riis and Fuchs, 1960;Serr and Margolis, 1964) for severe X-linked recessive disorders, as well as some inborn errors of metabolism (Jeffcoate et al, 1965;Nadler, 1968), and the first prenatal diagnosis of Down syndrome was made (Valenti et al, 1968). The procedure extracts a small quantity of amniotic fluid from around the foetus, usually at 16 weeks gestation, and can be used for biochemical analysis of the fluid itself (e.g., AFP), foetal karyotyping (chromosomal analysis) or quantitative enzyme testing (for inborn errors of metabolism) on cultured amniocytes.…”

A Survey of Amniocentesis in 925 Patients at High Risk of Fetal Genetic Disorder

“…EXAMINATION of the cells and other constituents of the amniotic fluid can yield information about fetal sex (Serr et al, 1955;Fuchs and Riis, 1956;Dewhurst, 1956;Riis and Fuchs, 1960;Serr and Margolis, 1964), fetal karyotype (Steele and Breg, 1966), inherited metabolic disorders (Nadler, 1968a;Fujimoto et al, 1968) and fetal neural tube defects (Brock and Sutcliffe, 1972). Thus amniocentesis has become an integral part of genetic counselling; reviews have been presented by Milunsky et a1 (1970), Nadler (1976) and Niermaijer et a1 (1976).…”