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PubMed1999

Long-term psychological effects of carrier testing and prenatal diagnosis of haemophilia: comparison with a control group.

The long-term psychological effects resulting from carrier testing and prenatal diagnosis (PD) of haemophilia were evaluated by comparing mental symptomatology scores (Symptom Check List, SCL-90) for 50 carriers of haemophilia who had undergone PD about five years earlier, 55 carriers who had not undergone PD and 262 control women who were not carriers. All of the women had children. Carrier testing for haemophilia per se and in combination with PD does not appear to have negative long-term psychological effects. A low tendency for somatization seems to be a factor characteristic of carriers considering PD for haemophilia and it was particularly salient when carriers had to consider the more invasive late PD procedures (amniocentesis and fetal blood sampling). Women who performed late PD appeared to represent a positive selection of carriers for whom a good sense of coherence and social support protected them from negative long-term psychological effects. It is reassuring that early PD by CVS, which is the current method of choice for PD for haemophilia, did not appear to have negative long-term psychological effects, even for women who had had an early abortion following PD.

Adult↗
PubMed2003

Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice.

Huntington disease (HD) is a neurodegenerative, autosomal dominant disorder of late-onset, caused by the expansion of a CAG repeat in the coding region of the gene. Ours is the reference laboratory for genetic testing in HD, in Portugal, since 1998; 90.1% of all 158 families known were identified for the first time, including patients with unusual presentation or without family history. A total of 338 genetic tests were performed: 234 for diagnosis, 96 for presymptomatic and four for prenatal testing (four were done for family studies). Most referring physicians were neurologists (90.6%); 82.8% of all clinical diagnosis were confirmed, while 83.1% of those sent for exclusion were in fact excluded. In presymptomatic testing, an excess of female subjects (59.4%) was again verified; 37.5% of the consultands were found to be carriers. None of the foetuses, in four prenatal tests, were mutation carriers. One juvenile case was inherited from her mother. Our patient population is very similar to others described so far, namely in terms of mean age at onset and (CAG)(n) distribution, except perhaps for a higher frequency of large normal (class 2) alleles (3.7%). We also identify cases posing particular problems for genetic counselling, such as, 'homozygosity' that can pose a serious ethical dilemma, carriers of large normal alleles, and 'homoallelism' for a normal gene, which will demand further procedures and may delay results in presymptomatic and prenatal testing.

Adolescent↗
PubMed2000

Cocaine use during pregnancy and intrauterine growth retardation: new insights based on maternal hair tests.

Prenatal cocaine use is more accurately measured by maternal hair assay than by urine toxicology screening or self-report. To investigate the consequences of improved measurement, the authors ascertained cocaine use during pregnancy by maternal hair test, urine test, and self-report in a sample of 691 patients recruited from one New York City hospital in 1990-1992. Associations with intrauterine growth retardation, head circumference, and length of gestation were investigated. A positive hair test at delivery was not more strongly associated with birth weight (-38.1 g; 95% CI: -164, 88.3) or head circumference (-1.73 mm; 95% CI: -5.91, 2.44) than a positive urine test at delivery (-182 g (95% CI: -295, -69.8) and -6.11 mm (95% CI: -9.99, -2.24), respectively). Cocaine concentration in hair (which was higher if urine tests were positive) had a dose-response relationship with birth weight: a 27-g decrease (95% CI: -51.9, -1.04) with each log-unit increase in concentration. Birth weights were similar among infants of never users and infants of users who stopped using cocaine before delivery. Heavier use of cocaine, but not lighter use, was associated with intrauterine growth retardation, and exposure in late pregnancy was necessary to the association. Although maternal hair tests were instrumental in clarifying these relations, their clinical use is probably not warranted.

Adult↗
PubMed1989

Prenatal exclusion testing for Huntington's disease: a problem of too much information.

At eight weeks of pregnancy a couple were informed that the prospective father's mother had died of Huntington's disease (HD). There were no living affected members in the immediate family to confirm the diagnosis. By inspection of the local genetic register, it was established that it was indeed HD segregating in the extended family. Genotyping of the prospective mother and father, the father's unaffected father, and his unaffected maternal grandmother was carried out using a battery of polymorphic DNA markers, including a new probe which has a very low recombination rate with the HD locus. Analysis of DNA from a chorionic villus sample taken at 10 weeks of pregnancy showed that the fetus must have inherited a chromosome from its father's affected mother. Its risk of developing HD was 47%. If the genotype of the unaffected maternal grandmother was taken into account, the risk was reduced to 42%. Neither risk was considered acceptable by the prospective parents and the pregnancy was terminated at 12 weeks' gestation. Prospects for future pregnancies are good, with a 50% chance of having a child whose risk of inheriting the HD gene is less than 1.5%. In retrospect it was noted that although genotyping of the maternal grandmother had refined the fetal risk, it had also nearly contributed to an inadvertent and unwanted predictive test for HD on the father. This case makes the point that in prenatal exclusion testing, linkage information must be generated with considerable care.

Adult↗
PubMed1993

Providers and consumers of prenatal genetic testing services: what do the national data tell us?

Prenatal genetic services are currently available in all but a few states. The Council of Regional Networks for Genetic Services (CORN) has developed and implemented a data collection project to collect a minimum data set (MDS) on genetic services, including prenatal services, throughout the US. More than 400 reporting units were solicited for data in 1989, and approximately 240 (60%) responded. The CORN MDS Report for 1989 shows that more than 124,000 prenatal patients received services in the reporting centers. These individuals received almost 303,000 individual prenatal clinical services and accounted for more than 481,000 laboratory tests. Advanced maternal age was the primary indication for service in the vast majority of patients (62%). Based on data from the two major proficiency testing programs for laboratories performing screening tests for maternal serum alpha-fetoprotein (MSAFP), it is estimated that 50% of the pregnancies in the US are screened for MSAFP. The CORN database provides the only data available for the rapidly expanding area of genetic services. Therefore, it provides a unique resource for evaluating progress toward the Healthy People 2000 objectives regarding genetic services.

Adult↗
PubMed1998

Carrier testing and prenatal diagnosis of haemophilia--utilisation and psychological consequences.

Attitudes towards prenatal diagnosis, and abortion vary widely between different countries, religions, cultures and over time. Carrier testing and prenatal diagnosis (PD) of haemophilia have become an integrated part of the comprehensive care for haemophilia in Sweden as well as in many other countries. Almost all carriers are interested in carrier testing if they are aware of the possibility. With the development of PD by chorionic villus sampling in the first trimester, the method became acceptable for many carriers, and it has in Sweden actually had an effect on the incidence of haemophilia in the 1990s. The use of PD is more common among women who perceive haemophilia as a very serious disease and who have a positive attitude towards legal abortion. The main reason for carriers not to use PD was that they do not find haemophilia to be a sufficiently serious disorder to justify an abortion. Women and their spouses are under a great deal of psychological pressure in association with the PD procedure, and the psychological consequences of having to terminate a pregnancy are long-lasting. At follow-up, about 6 years after PD and abortion, these women, however, do not have more signs of psychological distress than women without PD experience. Nevertheless, they must be offered qualified assistance both before and after PD as well as adequate follow-up after an abortion to help them cope with the emotional strain they are under.

Abortion, Legal↗
PubMed1997

Compliance with voluntary prenatal HIV testing in a large health maintenance organization (HMO).

Results of a recent national clinical trial show that maternal-to-fetal transfer of HIV can be decreased threefold by prenatal, intrapartum, and neonatal treatment. The question is whether to make prenatal HIV testing compulsory or to encourage voluntary testing. Kaiser Permanente Northern California (KPNC), which has 2.5 million members, is part of a large health maintenance organization (HMO). In 1994, KPNC cared for 32,700 prenatal patients; 16,500 (50%) agreed to voluntary HIV testing. Compliance with testing ranged from 0% to 92% among the 31 KPNC locations. A study done by telephone survey identified three main factors favoring success of voluntary HIV screening: the ease and accessibility of HIV testing, a designated educator, and the presence of a registered nurse on the counseling team. In 1995, following feedback to the 31 facilities of the 1994 results, compliance rose to 19,800 of 31,300 prenatal patients (63%). KPNC, by encouraging counseled voluntary screening and following known positive cases, hopes to identify, track, and offer treatment options to all HIV-positive prenatal patients.

Female↗
PubMed1996

Attitudes to predictive DNA testing in familial adenomatous polyposis.

Attitudes to predictive DNA testing for familial adenomatous polyposis were documented in 62 affected adults. Patient views on prenatal testing and termination of pregnancy for this disorder were sought, as were opinions on the most suitable age to offer predictive testing for at risk children and the most appropriate age to begin screening. While 15 (24%) of those questioned stated that they would proceed to termination of pregnancy if a prenatal test indicated that the unborn baby was affected, in clinical practice no one has yet requested this option. Six (10%) people who had refrained from having children for fear of passing on the polyposis gene felt that the arrival of prenatal testing would enable them to consider planning a family. The majority of patients (93%) said they would like their children tested by DNA analysis at birth or in infancy, but felt that 10 to 12 years was the most appropriate time to discuss the diagnosis with the child.

Abortion, Spontaneous↗
PubMed1988

Anxiety reduction after chorionic villus sampling and genetic amniocentesis.

This study compares anxiety levels in women undergoing prenatal testing by means of chorionic villus sampling versus genetic amniocentesis. Chorionic villus sampling can be performed earlier in a pregnancy (8 to 12 weeks' gestation) but has a higher risk of miscarriage. Randomized to undergo chorionic villus sampling or genetic amniocentesis as part of a trial examining the safety and accuracy of these procedures, the women were studied at four time periods: time 1, before prenatal testing (9 to 12 weeks' gestation); time 2, after the chorionic villus sampling results were received (13 weeks); time 3, before the genetic amniocentesis results were known (18 weeks), and time 4, after all results were known (22 weeks). Although they were still at risk for miscarriage, members of the chorionic villus sampling group showed a sharp drop in anxiety levels immediately after receiving their results. The genetic amniocentesis group remained anxious until the last test time. In summary, prenatal testing by means of chorionic villus sampling resulted in earlier and sustained anxiety reduction.

Adult↗
PubMed2005

Prenatal diagnostic testing for infantile and late-infantile neuronal ceroid lipofusinoses (NCL) using allele specific primer extension (ASPE).

Infantile (INCL, NCL1) and late-infantile (LINCL, NCL2) neuronal ceroid lipofuscinoses have been found to result from genetic deficiency of genes CLN(1 ) and CLN(2), respectively. The application of molecular analyses can facilitate prenatal diagnosis for families affected by NCL1 or NCL2, in which the familial mutation(s) have been identified. Molecular testing with allele-specific primer extension and DNA sequencing was performed in nine pregnancies, four from two NCL1 families and five from five NCL2 families. Lysosomal enzyme activity assays were carried out as well.Four fetuses from three pregnancies in NCL1 families were found to be carriers for a mutation 451C-T in the CLN(1) gene and one was normal. Prenatal testing of three NCL2 families who carried mutation R208X in the CLN(2) gene showed that all fetuses were carriers. In NCL2 families who carried either mutation IVS5-1C or/and IVS5-1A two normal pregnancies were detected. Our studies indicate that DNA testing, which may provide definitive prenatal diagnosis for NCL, may be used in combination with lysosomal enzyme activity analyses.

Alleles↗
PubMed2003

Prenatal genetic testing by amniocentesis appears to result in a lower risk of fetal loss than chorionic villus sampling in singleton pregnancies achieved by intracytoplasmic sperm injection.

OBJECTIVE: To compare pregnancy outcome after prenatal genetic testing by chorionic villus sampling (CVS) or amniocentesis in singleton pregnancies achieved by intracytoplasmic sperm injection (ICSI). DESIGN: Retrospective analysis. SETTING: Tertiary referral center. PATIENT(S): Eight hundred twenty-eight patients with singleton gestations achieved by ICSI. INTERVENTION(S): Midtrimester amniocentesis (685 patients) and first-trimester CVS (143 patients). MAIN OUTCOME MEASURE(S): Fetal loss rate, preterm delivery rate, and proportion of babies born with low or very low birth weight. RESULT(S): A significant difference was observed in fetal loss rate between CVS and amniocentesis (3.7% vs. 0.9%, respectively). On the other hand, a similar preterm delivery rate was present between the two methods (11.2% vs. 12.4%, respectively). No significant difference was observed between amniocentesis and CVS in the proportion of babies with birth weight of either <1,500 g (1.8% vs. 3.8%, respectively) or between 1,500 and 2,500 g (8.2% vs. 4.6%, respectively). CONCLUSION(S): Amniocentesis appears to result in a lower risk of fetal loss as compared with CVS in patients with a singleton pregnancy achieved by ICSI.

Abortion, Spontaneous↗
PubMed1991

Prenatal genetic testing and screening: constructing needs and reinforcing inequities.

This Article considers the influence and implications of the application of genetic technologies to definitions of disease and to the treatment of illness. The concept of "geneticization" is introduced to emphasize the dominant discourse in today's stories of health and disease and the social construction of biological phenomenon is described. The reassurance, choice and control supposedly provided by prenatal genetic testing and screening are critically examined, and their role in constructing the need for such technology is addressed. Using the stories told about prenatal diagnosis as a focus, the consequences of a genetic perspective for and on women and their health care needs are explored.

Abortion, Induced↗
PubMedDate not supplied

The lived experience of women who undergo prenatal diagnostic testing due to elevated maternal serum alpha-fetoprotein screening.

PURPOSE: To explore the lived experiences of a sample of 16 pregnant women who obtained an elevated maternal serum alpha-fetoprotein screening and had further prenatal diagnostic procedures to determine fetal status. DESIGN: Phenomenology METHODS: Sixteen pregnant women were interviewed on two occasions, immediately after contact with a maternal-fetal medicine specialist, and again during the immediate postpartum period. Interviews were conducted until analysis indicated that there was emergence of common themes. A nine-step method was used in the analysis procedure. RESULTS: The exhaustive description of the experience revealed four chronological reaction periods during the experience. CLINICAL IMPLICATIONS: Interactions clearly demonstrated the need for nursing interventions throughout the experience of prenatal diagnostic testing.

Adult↗
PubMed1998

Strong preference for non-invasive prenatal diagnosis in women pregnant through intracytoplasmic sperm injection (ICSI)

Intracytoplasmic sperm injection (ICSI) is a new and most powerful technique to treat severe forms of human infertility. While the follow-up studies have not shown an increased malformation risk so far, the genetic implications of ICSI are still not fully understood. For this reason, many institutions routinely recommend or even enforce invasive prenatal tests after successful intracytoplasmic sperm injection. We have counselled 107 women pregnant through ICSI about prenatal diagnosis. Sixty-five had already received genetic counselling prior to the treatment (group 1), while 42 had not attended our clinic before (group 2). They were free to choose between invasive and non-invasive diagnosis or no prenatal tests at all. Fifty-four per cent of these patients had an indication for prenatal karyotyping or other invasive procedures independent of ICSI. Only 17 per cent of the total cohort made use of amniocentesis or fetal blood sampling, 82 per cent opted for non-invasive tests (ultrasound, serum screening), and one couple did not wish any prenatal studies. The preference for non-invasive procedures was stronger in group 1 (94 per cent) than in group 2 (65 per cent). We suggest that if patients pregnant through ICSI have the option to choose freely between invasive and non-invasive prenatal tests, they strongly favour the latter.

Adult↗
PubMedDate not supplied

Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies.

Fragile X syndrome is the second leading cause of mental retardation after Down syndrome. Most women carriers of the fragile X mutation are unaware of their condition. We critically evaluated whether screening pregnant women at low risk for FMR1 mutation would be feasible as a routine part of antenatal care in general practice. We also studied acceptance and attitudes to gene testing. From July 1995 until December 1996, a carrier test was offered at the Kuopio City Health Centre free of charge to all pregnant women in the first trimester following counselling given by midwives on fragile X syndrome. All women found to be carriers of FMR1 gene mutations underwent detailed genetic counselling and were offered prenatal testing. Attitudes towards the gene test were elicited by questionnaire. Most pregnant women (85%) elected to undertake the gene test. Six women were found to be carriers (a rate of 1 in 246), and all subsequently accepted prenatal testing. Three foetuses had a normal FMR1 gene, one had a large premutation, one a 'size mosaic' mutation pattern, and another a full mutation. This observational and interventional study demonstrates that antenatal screening provides an effective way of identifying carriers and incorporating prenatal testing into this process.

Feasibility Studies↗
PubMed2003

The use of record linkage for auditing the uptake and outcome of prenatal serum screening and prenatal diagnostic tests for Down syndrome.

OBJECTIVES: To pilot the use of linked routine records for auditing Down syndrome prenatal serum screening and diagnostic tests. METHODS: The cohort studied were 110 272 patients of 4 London maternity units that offered the Bart's maternal serum tests any time between 1990 and 1999. Audit was based on linked data derived from obstetric records, referral data on maternal serum screening and/or prenatal diagnoses. Cytogenetic reports without matching obstetric data were retained in the cohort as they included fetal deaths or terminations. RESULTS: (1) Significant independent influences on uptake of serum screening (58% overall) were maternal age, ethnicity, year and referring hospital, and those on uptake of prenatal diagnosis (4% overall) were screening result (54% uptake after positive screen), maternal age, year and referring hospital; (2) detection, false-positive rates and odds of being affected after positive results were respectively 49%, 4% and 1 : 59 between 1990 and 1994, and 78%, 7% and 1 : 58 after 1994. Using maternal age alone (cut-off > or =37 at delivery), these would have been respectively 40%, 7% and 1 : 96 between 1990 and 1994, and 40%, 9% and 1 : 107 between 1995 and 1999. CONCLUSIONS: Ongoing audit of DS prenatal programmes could be derived from computerised maternity data sets if they included fetal deaths, and relevant laboratory and ultrasound findings.

Adult↗
PubMed1993

Non-invasive prenatal fetal testing by analysis of maternal blood.

As the number of women undergoing invasive prenatal diagnosis for cytogenetic, molecular, or biochemical testing is increasing, the development of new non-invasive methods of analyzing fetal cells is imperative. We have analyzed blood from 27 pregnant women (gestational age of 10-11 weeks) by the polymerase chain reaction (PCR) with oligonucleotide primers specific for Y sequences. The sensitivity of our assay, which did not include a step for fetal cell selection prior to PCR analysis, was 45% and the specificity was 89%. A review of the published studies of non-invasive prenatal diagnosis is provided. We conclude from our results and those of others that it is feasible to amplify fetal-specific sequences from maternal blood. However, techniques such as fluorescence-activated or magnetic-activated cell sorting of the maternal blood, as used in other studies, are necessary to enrich for fetal cells prior to analysis. With further improvements of these techniques, it is likely that fetal cell typing from maternal blood will be a feasible method of non-invasive prenatal diagnosis.

Chorionic Villi Sampling↗