BACKGROUND Having a child with Down syndrome (DS) is usually unexpected and stressful. AIM To describe the experiences of parents of children with DS at the time of diagnosis. MATERIAL AND METHODS A self-administered survey was answered by 345 parents (62% women) with an offspring with DS. RESULTS Eighty four percent of parents received a postnatal diagnosis of DS, 32.3% were informed of ...

This cross-sectional study evaluated knowledge and acceptability of prenatal diagnosis among 500 pregnant women at the University College Hospital, Ibadan. Most participants were aged 25-34 years, self-employed, Muslim, monogamy, secondary school leavers, on income of < naira10,000.00 (US$ 67.00)/month. Attitudinal mean score was dependent on age (p = 0.006), educational attainment (p = 0.001),...

This paper addresses the changing ideology regarding reproduction, an evolving American, and potentially worldwide, value system regarding children and parenthood. Children are increasingly being seen as products, and the new technology of reproduction, including the sale of reproductive material and services and especially prenatal diagnosis and selective abortion, encourage this commodificati...

We have monitored two pregnancies from families at risk for galactosaemia. The fetus was diagnosed as having galactosaemia in one and to be unaffected in the other. The accuracy of the predictions was confirmed postnatally. Assays for galactose 1-phosphate uridyl transferase involving the reduction of the coenzymes NAD or NADP are unsuitable for amniotic cells whereas estimation of (14)C-UDP-ga...

The question who is the subject of the right to prenatal diagnosis may be answered in four ways: the parents, the child, society, or no one. This article investigates the philosophical issues involved in each of these answers, which touch upon the conditions of personal identity, the principle of privacy, the scope of social responsibility, and the debate about impersonalism in ethics.

In recent years the prevalence of Down syndrome has been increasing. The increase in the prevalence might be partly explained by better compilation of statistics on Down syndrome today. Also, the mean maternal age at first delivery as well as the proportion of older moth‐ ers is increasing in all western countries and the risk of Down syndrome increases with ad‐ vancing maternal age [1]. The pr...

We report prenatal diagnosis of phenylketonuria by linkage analysis of the markers linked to the phenylalanine hydroxylase (PAH) gene. Three markers comprising STR (TCTAT)n in intron 3, VNTR (30bp long cassette) in the 3' UTR and Xmn1 RFLP were ascertained in the affected child, the parents and the chorionic villi sample. The foetus was confirmed to be heterozygous for the mutant allele. The di...

Human serum normally contains only the conjugated bile salts, glycocholate, glycochenodeoxycholate, taurocholate and taurochenodeoxycholate (Sandberg et al., 1965 ; Panveliwalla et al., 1970), with a total concentration below 5pmol/l. In serum from jaundiced patients the total bile salt concentration may rise to values exceeding 250pmol/l (Panveliwalla et al., 1970). The conjugated chenodeoxych...

The presence of foetal DNA in the plasma of pregnant women has opened up new possibilities for non-invasive prenatal diagnosis. The use of circulating foetal DNA for the non-invasive prenatal detection of foetal chromosomal aneuploidies is challenging as foetal DNA represents a minor fraction of maternal plasma DNA. In 2007, it was shown that single molecule counting methods would allow the det...

Prenatal diagnosis, traditionally used as a synonymous for invasive fetal testing and evaluation of chromosomal constellation, presently encompasses many other issues like pedigree analyses, fetal risk assessment, population screening, genetic counseling and fetal diagnostic testing as well. Ultrasound guided chorionic villus samling (CVS), amniocentesis and, to a lesser extent, fetal blood sam...