First trimester biochemical screening for trisomy 21.
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Amniocentesis↗
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Prenatal diagnosis of Down's syndrome: a method for measuring the consistency of women's decisions.
A method was developed for judging the quality of womens' decision making in the field of prenatal diagnosis by measuring the internal consistency of their replies to a series of hypothetical decisions. Seventy-three nonpregnant women were interviewed using a lottery technique to elicit the risks of the birth of a Down's child at which they would request the two main procedures for prenatal diagnosis, amniocentesis and chorionic villus biopsy (CVB). The consistency of their replies was tested by performing a third lottery to elicit at what CVB-related abortion risk the subject would choose CVB in preference to amniocentesis. Almost half the subjects were inconsistent, in that their difference level on this third lottery differed by a factor of two or more from that expected from the first two lotteries.
Amniocentesis↗
Placental pathology in antiphospholipid syndrome.
One of the major targets of antiphospholipid antibodies (aPL) is the placenta, the evolution of which during pregnancy has been well documented. Histopathological findings are related to gestational age, and several physiologic and pathologic alterations that occur during its development. The major findings in placentae from aPL positive patients are thrombosis, acute atherosis, a decreased number of syncytio-vascular membranes, increased number of syncytial knots and obliterative arteriopathy. These findings are not specific to the antiphospholipid syndrome (APS) and sometimes do not correlate with the fetal outcome. Histopathological study of placentae may elucidate mechanisms of action of aPL in fetal loss and other obstetric complications. In addition, it may assist in the investigation of the differential diagnosis between APS and pregnancy-induced hypertension. Immunohistochemical studies of local placental proteins contribute to this differential diagnosis.
Abortion, Habitual↗
Health behaviour modelling for prenatal diagnosis in Australia: a geodemographic framework for health service utilisation and policy development.
BACKGROUND: Despite the wide availability of prenatal screening and diagnosis, a number of studies have reported no decrease in the rate of babies born with Down syndrome. The objective of this study was to investigate the geodemographic characteristics of women who have prenatal diagnosis in Victoria, Australia, by applying a novel consumer behaviour modelling technique in the analysis of health data. METHODS: A descriptive analysis of data on all prenatal diagnostic tests, births (1998 and 2002) and births of babies with Down syndrome (1998 to 2002) was undertaken using a Geographic Information System and socioeconomic lifestyle segmentation classifications. RESULTS: Most metropolitan women in Victoria have average or above State average levels of uptake of prenatal diagnosis. Inner city women residing in high socioeconomic lifestyle segments who have high rates of prenatal diagnosis spend 20% more on specialist physician's fees when compared to those whose rates are average. Rates of prenatal diagnosis are generally low amongst women in rural Victoria, with the lowest rates observed in farming districts. Reasons for this are likely to be a combination of lack of access to services (remoteness) and individual opportunity (lack of transportation, low levels of support and income). However, there are additional reasons for low uptake rates in farming areas that could not be explained by the behaviour modelling. These may relate to women's attitudes and choices. CONCLUSION: A lack of statewide geodemographic consistency in uptake of prenatal diagnosis implies that there is a need to target health professionals and pregnant women in specific areas to ensure there is increased equity of access to services and that all pregnant women can make informed choices that are best for them. Equally as important is appropriate health service provision for families of children with Down syndrome. Our findings show that these potential interventions are particularly relevant in rural areas. Classifying data to lifestyle segments allowed for practical comparisons of the geodemographic characteristics of women having prenatal diagnosis in Australia at a population level. This methodology may in future be a feasible and cost-effective tool for service planners and policy developers.
Adult↗
Prenatal diagnosis of hemoglobinopathies in Ontario, Canada.
In 1989, the Province of Ontario established a molecular diagnostic laboratory for carrier detection and prenatal diagnosis of hemoglobinopathies. Over the past 15 years, the laboratory has provided prenatal diagnosis for 672 pregnancies at-risk for severe hemoglobinopathies: 276 (41%) for homozygous beta-thalassemia or hemoglobin (Hb) E/beta-thalassemia, 211 (31%) for homozygous alpha 0-thalassemia (Hb Bart's hydrops fetalis), and/or Hb H disease, and 185 (28%) for various sickling disorders (Hb SS, Hb SC, Hb S/beta-thalassemia). Despite the availability of services for carrier screening, genetic counseling, and prenatal diagnosis, there has been only a modest reduction in the overall incidence of hemoglobinopathies in Ontario.
Adult↗
Prenatal diagnosis of collagen disorders by direct biochemical analysis of chorionic villus biopsies.
We have developed a method for early prenatal diagnosis of molecular disorders of collagens I and III. The method takes advantage of the fact that isolated chorionic villi contain significant amounts of collagens in their extracellular matrix (stroma) and that they synthesize collagens in vitro. After metabolic labeling of chorion villus biopsies in toto with radioactive amino acids, collagens are extracted and analyzed by SDS-PAGE. Direct staining of the gel shows collagens synthesized in vivo, whereas autoradiofluorography identifies collagens synthesized during incubation in vitro. Unlike collagens synthesized by cultured amniotic fluid cells, collagens extracted from chorionic villi are not overmodified and thus allow better identification of molecular defects. Results are available within 3 to 5 d after biopsy. Using this method, we have correctly excluded Ehlers-Danlos syndrome type IV in two pregnancies, Ehlers-Danlos syndrome type VII in one pregnancy, and lethal osteogenesis imperfecta in four pregnancies. In addition, we correctly predicted a healthy fetus and an embryo affected with lethal osteogenesis imperfecta in consecutive pregnancies from a couple in which the asymptomatic mother was a somatic mosaic for a COL1A1 G-to-A transition (Gly355Asp). Direct collagen analysis of chorion villus biopsies labeled in toto is rapid and reliable and may become the method of choice for the prenatal diagnosis of selected collagen disorders.
Adult↗
Prenatal diagnosis and treatment of 11beta-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitalia.
Congenital adrenal hyperplasia (CAH) consists of autosomal recessive disorders of cortisol biosynthesis, which in the majority of cases result from 21-hydroxylase deficiency. Another enzymatic defect causing CAH is 11beta-hydroxylase deficiency. In both forms, the resulting excessive androgen secretion causes genital virilization of the female fetus. For over 10 yr female fetuses affected with 21-hydroxylase deficiency have been safely and successfully prenatally treated with dexamethasone. We report here the first successful prenatal treatment with dexamethasone of an affected female with 11beta-hydroxylase deficiency CAH. The family had two girls affected with 1beta-hydroxylase deficiency born with severe ambiguous genitalia who were both homozygous for the T318M mutation in the CYP11B1 gene, which codes for the 11beta-hydroxylase enzyme. In the third pregnancy in this family, the female fetus was treated in utero by administering dexamethasone to the mother, starting at 5 weeks gestation. The treatment was successful, as the newborn was not virilized and had normal female external genitalia. A second family with two affected sons was also studied in preparation for a future pregnancy. We report a novel 1-bp deletion in codon 394 (R394delta1) in the CYP11B1 gene in this family.
Adrenal Hyperplasia, Congenital↗
Update on the prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
11beta-Hydroxylase deficiency is a common form of congenital adrenal hyperplasia causing virilization of the female fetus and hypertension. DNA analysis of the gene (CYP11B1) encoding 11beta-hydroxylase has been reported previously to be effective in the prenatal diagnosis of one affected female fetus. In that case, prenatal treatment with dexamethasone resulted in normal female genitalia. We now report five new pregnancies that underwent prenatal diagnosis for 11beta-hydroxylase deficiency. In the first family, the proband is homozygous for a T318M mutation and all fetuses from four subsequent pregnancies are carriers. In a second family, the mother is homozygous for a A331V mutation and was started on dexamethasone, but identification of a homozygous normal fetus led to the discontinuation of treatment. In another family, the fetus was a male homozygous for R384Q and treatment was discontinued. Lastly, a novel G444D mutation in exon 8 was identified and proven to reduce 11beta-hydroxylase activity.
Adolescent↗
Clinical experience with the triple test for Down's syndrome screening.
The introduction of maternal serological screening for chromosome disorders in pregnancy in women aged over 30 years at the estimated date of delivery was monitored in two hospitals. The test used involved measurement of three substances in maternal serum combined with maternal age (the triple test). This is the first report of such screening applied to an unselected antenatal clinic population. Test uptake was high but there was no overall increase in amniocentesis numbers because the increase in younger mothers was compensated for by a decrease in older women who previously, without serological testing, might have gone directly to amniocentesis. It is anticipated that widespread introduction of such testing will lead to improved detection of Down's syndrome as predicted from retrospective studies.
Adult↗
Information on prenatal diagnosis at the antenatal clinic. The women's experiences.
The issue of information and autonomy (informed consent) in prenatal diagnosis (PND) was studied by questionnaires given to women undergoing amniocentesis (group A, n = 122) or chorionic villus biopsy (group V, n = 90). About 1/4 of the women were also interviewed. Sixty-eight percent of the women had learnt most about PND already before visiting the antenatal clinic. More women in group A (75%) than in group V (51%) were satisfied with the information given at the clinic, probably because amniocentesis is a well-known routine, while chorionic villus biopsy is not. Further, in both groups, more of the women who underwent PND because of age were satisfied with the information than those having PND because of strong fear of giving birth to a handicapped baby. This might be explained by the complicated character of this fear, which the medical staff could not always understand and meet. Also the women who were investigated because of a known genetic problem seemed to need more specialized genetic counselling. Fifty-eight percent of the women were well informed about the risk of giving birth to a child with a congenital disorder and 83% about which disorders could be detected by the procedure they were undergoing. Seventy-three percent had not felt any uneasiness when they were offered PND by their midwife or gynecologist; 18% had initiated the discussion themselves. Seventy-four percent of the women recommended that the medical staff actively offered PND. Most women (87%) answered that the midwife's or gynecologist's attitude towards PND had been positive. The majority (85%) considered that there is a risk of persuasion in counselling.(ABSTRACT TRUNCATED AT 250 WORDS)
Amniocentesis↗
Sixty-six cases of intrauterine fetal death. A prospective study with an extensive test protocol.
BACKGROUND: A prospective study was performed to elucidate the etiology of intrauterine fetal death and to evaluate diagnostic procedures. METHODS: Sixty-six stillbirth cases with a gestational age of more than 25 complete weeks were studied, using an extensive test protocol. The validity of the cause of death was classified as certain, probable, possible and unexplained. The extent to which the diagnostic measures had been performed was classified: patients in whom none or only a few tests were performed, patients partially tested and patients completely tested. RESULTS: The cause of death was certain in 57%, probable in 20%, and possible in 11% of the cases. In only 12% of the cases did the cause of death remain entirely unexplained. The principal causes of IUFD were infections, including premature rupture of the membranes (15%), anomalies (11%), preeclampsia-associated conditions (9%) and intrauterine growth retardation of unknown etiology (8%). In this series, less well-known conditions, such as circulating maternal autoantibodies and feto-maternal transfusion, also appeared to play an important role in causing intra-uterine fetal death. CONCLUSIONS: An extensive and relevant test protocol provides information as to the cause of death in the majority of cases. Future protocols should include tests for autoimmune antibodies and feto-maternal transfusion.
Blood Coagulation Disorders↗
The expectant father and prenatal diagnosis.
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Abortion, Eugenic↗
Studies of beta-thalassemia mutations in families living in three provinces in southern China.
beta-Thalassemia is a common disease in Southern China and 10 different mutations or frameshifts are responsible for most types of beta-thalassemia in this area. We studied 126 chromosomes of 80 beta-thalassemia patients from the Guangxi, Guangdong, and Sichuan Provinces using the polymerase chain reaction followed by dot-blot hybridization with specific oligonucleotide probes. The most common mutation in the three provinces is the frameshift at codons 41-42, followed by the A----T mutation at codon 17. The A----G mutation at nt -29 of the promoter is common in Sichuan but not in the other two provinces. Three mutations (T----C at nt -30; G----T at IVS-I-1, and G----C at IVS-I-5) were not observed. These data were used to initiate a prenatal diagnosis program using the same techniques for identification. Eleven fetuses at risk for beta-thalassemia have been diagnosed.
Base Sequence↗
Cytogenetic study employing chorionic villi in ectopic pregnancy.
Maternal factors such as salpingitis and peritubal adhesion are known to be associated with ectopic pregnancy; however, a few studies have considered the chromosomal complements of ectopic conceptuses. We studied 16 ectopic conceptuses obtained by surgical resection. The karyotyping of chorionic villi was performed using direct and culture technique. Among 16 studied cases, 14 cases showed normal karyotype (nine with 46, XY; five with 46, XX). One case showed trisomy 16(47, XY, + 16) and another showed variation from normal chromosomal complement (46, XY, 14s+), resulting in 6.3% incidence of the structural abnormalities of the chromosome. On the basis of our study, we determined the possibility of chorionic villi karyotyping in ectopic pregnancy. This ectopic conceptuses are no more likely to show chromosomal abnormalities than in utero conceptuses of comparable gestational age. Therefore, maternal factors such as salpingitis and peritubal adhesion are the most likely explanations for ectopic pregnancy.
Adult↗
The openings of uteroplacental vessels with villous infiltration at different gestational ages.
CONTEXT: The number of uteroplacental vessels flowing into the intervillous space in mature placentas has been reported in some studies to increase and in others to decrease. Both villous infiltration and proliferation in the vessels have been neglected in histologic examinations and need to be studied. OBJECTIVE: To clarify these conflicting findings regarding villous infiltration and proliferation in the uteroplacental vessels. DESIGN: A retrospective study was done using placental sections of different gestational ages. The openings of the vessels in each section were counted, noting if they were with or without villous infiltration. The frequency of openings per section was calculated, and the findings were grouped by gestational age. RESULTS: The frequency of total openings was significantly lower in the 41 to 37 weeks group (1.2) than in the 36 to 30 weeks group (2.0), the 29 to 20 weeks group (2.2), and the 19 to 13 weeks group (2.4) (P < .001). The frequency of openings with villous infiltration decreased similarly in mature placentas. Chorionic villi infiltrated the openings and proliferated in uteroplacental vessels. Differentiation between arteries and veins was difficult in the basal plate, because all vessels had veinlike structures. CONCLUSIONS: This decreasing frequency of openings in mature placentas suggests that the amount of intervillous blood flow is limited in full-term and postterm pregnancy. Villous infiltration into the vessels is considered a normal finding with gestation and can provide trophoblast for uteroplacental arteries. The relationship between placental development and villous proliferation in the vessels is presented.
Chorionic Villi↗
Ultrasonography in the detection of aneuploidy in the first trimester.
Ultrasonography has been used increasingly in the first trimester to identify fetal anomalies as early as possible in gestation. First trimester sonographic screening may detect a greater proportion of aneuploid fetuses than sonography performed later in pregnancy, and it may allow determination of potential markers for prediction of chromosomal anomalies.
Aneuploidy↗
First trimester diagnosis of cyclopia and holoprosencephaly.
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Adult↗
Genetic sonography: a cost-effective method for evaluating women 35 years and older who decline genetic amniocentesis.
OBJECTIVE: To determine whether offering genetic sonography to patients who decline invasive testing can increase the detection rate of trisomy 21 and is cost-effective. METHODS: The detection rate of trisomy 21, the number of pregnancy losses after amniocentesis, and the cost of detecting a single fetus with trisomy 21 were determined in women 35 years and older managed according to the following 3 policies: (1) universal amniocentesis, (2) genetic counseling for maternal age-associated risks for trisomy 21 followed by amniocentesis in patients who elected it, and (3) genetic counseling followed by genetic sonography in patients who originally declined genetic amniocentesis. RESULT: From a population of 40,143 women 35 years and older, the expected number of trisomy 21 fetuses was 349. After genetic counseling, 32% of patients declined invasive testing, resulting in detection of 70% of fetuses with trisomy 21. For universal amniocentesis, the cost to detect 1 fetus with trisomy 21 was $138,036. For the 32% who declined invasive testing after genetic counseling and underwent genetic sonography, the cost to detect a single fetus with trisomy 21 was a function of sensitivity and the screen-positive rate. For screen-positive rates between 5% and 25%, genetic sonography resulted in a cost savings between 14.3% and 18.8% when compared with universal invasive testing and resulted in a considerable increase in detection of fetuses with trisomy 21 (77% to 97%). CONCLUSIONS: A policy of offering genetic sonography followed by amniocentesis to patients 35 years and older who originally decline invasive testing for the diagnosis of trisomy 21 is cost-effective and results in a higher overall detection rate for trisomy 21 without an increased risk of pregnancy loss.
Adult↗