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PubMed1990

Prenatal genetic diagnosis following recurrent early pregnancy loss.

Recurrent pregnancy loss affects 1% of patients, an incidence higher than expected from the prevalence of spontaneous abortion in the general population. Some couples may show a tendency for aneuploid conceptions. Genetic counseling and amniocentesis or chorionic villus sampling were offered to 305 couples with a history of two or more pregnancy losses and normal parental karyotypes, with no additional known risk factors for aneuploidy. Prenatal diagnostic procedures were performed in 96 pregnancies. Two hundred nine couples declined active intervention, and these pregnancies were followed to delivery. Five chromosomal abnormalities (1.6%) were diagnosed in the study group. A group of 979 prenatal diagnostic procedures performed in "low-risk" pregnancies in Hutzel Hospital was used as controls, and three chromosomal anomalies (0.3%) were diagnosed. That the rate of aneuploid conceptions was statistically significantly (P = .02) higher in low-risk couples experiencing recurrent pregnancy loss than in controls points to a tendency for chromosomal aberrations in their offspring and suggests a place for prenatal diagnosis in subsequent pregnancies.

Abortion, Habitual↗
PubMed1991

Clinical and pathological factors in spontaneous abortion following chorionic villus sampling.

Twenty-nine cases of spontaneous abortion following first-trimester chorionic villus sampling (CVS) were reviewed out of a series of 722 patients. Of the 29 cases, there were only four abnormal CVS results. Pathological examination was performed in 79 per cent of cases, and this did not identify any characteristic pathological feature associated with spontaneous abortion after CVS. There was no obvious difference in the pathological features following the transabdominal (TA) or the transcervical (TC) methods. The majority of miscarriages occurred within 4 weeks of the procedure, but 38 per cent of cases aborted between 7 and 14 weeks after CVS. The TC method was used in 22 patients; the TA in 6; and both methods in 1 patient. The TA method was associated with a significantly lower fetal loss rate than the TC method (TA 2 per cent, TC 9 per cent, p less than 0.001).

Abortion, Spontaneous↗
PubMed1999

Cardiac blood flow studies in fetuses with homozygous alpha-thalassemia-1 at 12-13 weeks of gestation.

OBJECTIVE: Fetuses affected by homozygous alpha-thalassemia-1 develop anemia as early as the first trimester. Our objective was to study hemodynamic indices in affected fetuses at 12-13 weeks of gestation to determine whether these would be useful in the prediction of anemia. DESIGN: Prospective observational study. SUBJECTS: Women referred before 14 weeks of gestation for the prenatal diagnosis of homozygous alpha-thalassemia-1. METHODS: Transabdominal and/or transvaginal Doppler sonography was performed to measure the flow velocities in the fetal ascending aorta and pulmonary artery at 12-13 weeks. The Doppler indices were compared between those that were subsequently confirmed to be affected by homozygous alpha-thalassemia-1 and those that were unaffected. RESULTS: Between June 1997 and April 1998, 60 eligible women were recruited. Doppler examination was successful in 58 fetuses. Of these, 22 were subsequently confirmed to be affected by homozygous alpha-thalassemia-1. The diagnosis was made by chorionic villus sampling and DNA analysis in two affected fetuses and by cordocentesis and hemoglobin evaluation in 20 affected fetuses. Hemoglobin concentrations could be measured in ten fetuses and these ranged from 4 to 8 g/dl. The affected fetuses had significantly higher peak velocities at the pulmonary valve and ascending aorta and a larger inner diameter of the pulmonary valve than that in unaffected fetuses. The total cardiac output was increased by one-third in affected fetuses and was mainly due to an increase of the right-side cardiac output. CONCLUSION: In the early stage of anemia, the fetus responds mainly by increasing its right-side cardiac output. However, there is extensive overlap of the values of cardiac output between the affected and the unaffected fetuses, precluding its use in the prediction of anemia.

Adult↗
PubMed1996

Chorionic villus sampling: clinical experience of the initial 750 cases.

OBJECTIVE: To assess the factors that might influence the success rate, safety and reliability of chorionic villus sampling (CVS) and to evaluate the relationship between CVS and other congenital anomalies. DESIGN: Analysis of the outcome of 750 cases of CVS (730 cases with transcervical and 20 cases with transabdominal). SETTING: The outpatient prenatal genetic clinic of a university tertiary care center. SUBJECT: Seven hundred and fifty pregnant women that underwent CVS for prenatal genetic diagnosis from 7 to 12 weeks of gestation. RESULTS: Advanced maternal age was the most common indication for CVS (32.8%). The overall sampling success rate was 98.0% (735/750), representing 93.9% at 7 to 8 weeks, 98.1% at 9 to 10 weeks, and 98.3% at 11 to 12 weeks of gestation. The majority of cases (93.1%) required one or two aspirations. Cytogenetic analysis routinely included direct overnight and long-term culture methods which revealed 16 abnormalities (2.2%). Of 735 cases in which CVS was successful, 700 advanced to normal offspring, 17 had therapeutic termination, and 18 resulted in spontaneous abortions; there was an overall fetal loss rate of 2.4% (18/750). CONCLUSION: CVS in early pregnancy is a relatively safe and reliable method of prenatal genetic diagnosis capable of replacing genetic amniocentesis. However, it must be done by experienced personnel. No congenital anomalies were found to be related to CVS in this series.

Adult↗
PubMed1992

Limb anomalies following chorionic villus sampling: a registry based case-control study.

Using data from the Italian Multicentric Birth Defect Registry a case-control study was performed to verify if chorionic villus sampling (CVS) was associated with transverse limb defects (TLD), with or without features of oro-mandibular-limb hypogenesis complex (OMLHC), in the exposed offspring. The results show that the risk of TLD and OMLHC is increased following CVS, and is particularly high for CVS performed early in pregnancy, i.e., under 70 days of gestational age. These results, together with a review of other epidemiologic studies, biological data and clinical reports, strongly suggest a causative role of CVS as a risk factor for TLD and indicate that at this stage CVS before 70 days of gestational age should be discouraged as an option for prenatal diagnosis and that all patients wishing to undergo CVS should be informed about the possible risk of the procedure.

Abnormalities, Multiple↗
PubMed2002

Parental decisions to abort or continue a pregnancy with an abnormal finding after an invasive prenatal test.

OBJECTIVE: To determine the importance of various factors on the decisions whether to terminate or continue a pregnancy after an abnormal result. METHODS: The decisions of 1467 women who had an abnormal result after an invasive prenatal test were examined according to their religion, the time of diagnosis and the severity of the disorder. RESULTS: When the examinations were performed by chorionic villus sampling (CVS) among both Jews and non-Jews most of the women opted to terminate the affected pregnancy. After amniocentesis the rate of termination of pregnancy was still very high among cases in which Down syndrome or other significant chromosomal aberrations were diagnosed among Jews. For all the other diagnostic groups either among Jews or non-Jews there was a significant proportion of the cases in which the women decided to continue the pregnancy. A significant exception about the decisions of the couples was in the case of hemoglobinopathy-affected pregnancies among Arabs since both after CVS and amniocentesis many women often decided to continue the pregnancy. CONCLUSION: The main factor in the decision to terminate or continue the pregnancy is the severity of the disorder diagnosed. However, among Arabs other factors are important, in particular the time at which the diagnosis is made.

Abortion, Eugenic↗
PubMed1997

Invasive antenatal procedures and requirement for neonatal intensive care unit admission.

Neonatal respiratory difficulties are increased following second trimester amniocentesis. In preterm, prolonged rupture of the membranes, respiratory outcome is particularly poor when rupture occurs in the first trimester. It therefore seems likely that first trimester/ early amniocentesis (EA) would be associated with severe respiratory problems necessitating a high neonatal intensive care unit (NICU) admission rate. To test that hypothesis, the requirement for admission to the NICU of 278 infants whose mothers had undergone EA, 262 whose mothers had undergone chorion villus sampling (CVS group) and 264 controls whose mothers had undergone no invasive procedures were reviewed as were their diagnoses if they needed admission. There was no significant difference in the mode of delivery, gestational age or gender distribution of the three groups and the median maternal age of the EA and CVS groups was similar. Nineteen EA, eight CVS and five control infants required admission to the NICU (EA versus controls, P < 0.01; EA versus CVS plus controls, P < 0.005). Nine EA, one CVS and four control infants had suffered respiratory problems (EA versus CVS P < 0.05). Logistic regression analysis demonstrated that immaturity and EA were significantly associated with a requirement for NICU admission. We conclude infants whose mothers have undergone EA may be at increased risk for NICU admission, this is partly due to respiratory problems but the association is uncommon.

Amniocentesis↗
PubMed1992

Lung volume measured by functional residual capacity in infants following first trimester amniocentesis or chorion villus sampling.

OBJECTIVE: To determine the incidence of respiratory problems and lung volume abnormalities in babies born after first trimester amniocentesis or chorion villus sampling. DESIGN: A prospective randomized study. SETTING: Harris Birthright Research Centre for Fetal Medicine, Paediatric Respiratory Laboratory, King's College Hospital. SUBJECTS: Babies of mothers who had undergone first trimester amniocentesis (n = 74) or chorion villus sampling (CVS) (n = 86) for fetal karyotyping because of advanced maternal age, parental anxiety or family history of chromosomal abnormality in the absence of parental chromosome re-arrangement. MAIN OUTCOMES: Respiratory distress in the neonatal period and lung volume as assessed by measurement of functional residual capacity (FRC). RESULTS: CVS was associated with a significantly higher incidence of neonatal respiratory distress, six infants in the CVS group but none in the amniocentesis group required admission to the special care baby unit because of respiratory distress (P less than 0.05). Although there was no significant difference in the mean FRC between the two groups (amniocentesis 29.7 ml/kg vs CVS 29.6 ml/kg) the overall incidence of FRC values less than 2.5th centile of the normal range was 9%. CONCLUSION: Both amniocentesis and CVS performed in the first trimester of pregnancy may impair antenatal lung growth.

Amniocentesis↗
PubMedDate not supplied

Prenatal diagnosis and control strategies for beta-thalassaemia on the Indian subcontinent.

BACKGROUND: The control of beta-thalassaemia by prenatal diagnosis is an important option in India. The disease is common and resources are scarce for the treatment of affected children. Presently the most suitable approach for prenatal diagnosis is DNA analysis of a chorion villus sample by direct mutation detection. For the implementation of such a prenatal diagnosis programme it is essential to know the spectrum of beta-thalassaemia mutations in the population. METHOD: The beta-thalassaemia mutations of 708 unrelated carriers from seven different regions of the Indian subcontinent were characterized by the allele-specific polymerase chain reaction and DNA sequencing. RESULTS: Sixteen different beta-thalassaemia mutations were identified which could be divided into three groups according to their frequencies. Five common mutations accounted for 93% of alleles. Significant regional differences in the frequency and distribution of mutations were observed. CONCLUSIONS: The spectrum of mutations defined forms the basis for a beta-thalassaemia prenatal diagnosis programme in India. A strategy has been outlined for mutation detection which could be successfully applied. Since prenatal diagnosis has become comparatively simple, recommendations are made for a community-based thalassaemia control programme.

Base Sequence↗
PubMed1996

Prenatal cystic fibrosis screening in a low-risk population undergoing chorionic villus sampling for fetal karyotyping.

Screening for cystic fibrosis (CF) has been offered to pregnant women seeking chorionic villus sampling (CVS) for prenatal chromosomal abnormality investigation. The mutation panel has increased over the years to include 8 mutations and can detect 65% of abnormal CF genes in the Italian population. Testing was offered to a total of 2214 consecutive pregnant women; 45 of them declined screening (take up rate: 98%). In 1055 of the 2169 pregnancies screened, the test was at first done on the fetus, while in the remaining cases both parents were investigated. Among parents 46 carriers were identified (2.1%), in 41 of whom the mutation was delta F508. In two couples both parents were heterozygous, and in one the fetus was affected and the pregnancy was terminated. Although CF testing offered to pregnant women undergoing invasive investigation such as CVS may not be the model for a mass screening, its very high effectiveness can represent an advantageous component of more comprehensive strategies.

Abortion, Legal↗
PubMed1989

Cytogenetic findings in 1250 chorionic villus samples obtained in the first trimester with clinical follow-up of the first 1000 pregnancies.

First-trimester chorionic villus sampling (CVS) was performed in a series of 1250 pregnancies. The direct method of karyotyping was successful in 1205 (96.4%). Abnormal laboratory findings resulted in 60 terminations of pregnancy (4.8%). In addition, six unexpected balanced chromosome rearrangements were detected. False-positive cytogenetic findings occurred in 2.3%, comprising 22 with mosaicism confined to the trophoblast, and a further six non-mosaic false-positive discrepancies were detected, four after termination of pregnancy. The outcome of the first 1000 pregnancies is known in all but one. There were no false-negative findings. Of 947 pregnancies meant to be continued, 34 (3.6%) ended in pregnancy loss before 28 weeks gestation. However, obstetricians with an experience of over 150 procedures had a pregnancy loss of 1.3%.

Adult↗
PubMed1996

First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency).

In Smith-Lemli-Opitz syndrome (SLOs), 7-dehydrocholesterol (7-DHC) accumulated because there is a block in the pathway for synthesis of cholesterol via 7-DHC. Prenatal diagnosis of SLOs has been achieved by analysis of 7-DHC in amniotic fluid obtained at 16-18 wk from pregnancies at risk. The purpose of this study was to investigate 7-DHC and cholesterol concentrations in chorionic villus (CV) samples with a view to performing first trimester prenatal diagnosis. Using a sensitive gas chromatography-mass spectrometry assay it was possible to detect 7-DHC in CV samples obtained as early as 7 wk of gestation. The ration of 7-DHC to cholesterol in placental tissue was shown to be relatively constant over the gestational period of 7-18 wk. We therefore proceeded to analyze the 7-DHC/cholesterol ration in CV samples taken at 10-12 wk of gestation from three pregnancies at risk for SLOs. The results were as follows: patient A, 1.10 x 10(-3); patient B, 1.80 x 10(-3); patient C, 0.091; control range for CVS (8-12 wk), 3.10 x 10(-4) to 1.62 x 10(-3) (mean +/- 2SD; n = 5). The fetus of patient C was diagnosed as affected by SLOs, and the parents requested termination. Analysis of cultured skin fibroblasts confirmed the diagnosis. Pregnancies A and B were diagnosed unaffected, and this was confirmed first by amniocentesis and then by the birth of normal infants at term. We conclude that synthesis of cholesterol via 7-DHC is occurring in the placenta and/or fetus at 10 wk of gestation and that prenatal diagnosis by CV biopsy is possible.

Amniocentesis↗
PubMed1996

Molecular-cytogenetic investigations of ten term placentae in cases of prenatally diagnosed mosaicism.

Discrepant chromosome findings in the placenta and fetus are detected by additional investigations commonly after chorionic villus sampling (CVS) and occasionally after amniotic fluid cell cultures. In this paper we present the results of molecular-cytogenetic investigations (fluorescence in situ hybridization, FISH) of ten term placentae after prenatally detected mosaicism. In three cases, mosaicism was found after first-trimester CVS and in seven cases, after second-trimester amniotic fluid culture. All three results after CVS represented confined placental mosaicism (CPM). Two of the seven mosaic findings after amniocentesis were not confirmed postnatally. In the remaining five cases, general mosaicism was found. The analyses of six defined areas of the term placentae showed that it is important to investigate the placenta at multiple sites. The frequency of a cell line varied by more than 50 per cent at different analysed sites. FISH on interphase nuclei proved to be a rapid and reliable method of investigating large numbers of biopsies and cells per biopsy.

Amniocentesis↗
PubMed1991

Prenatal diagnosis in advanced maternal age. Amniocentesis or CVS, a patient's choice or lack of information?

Ninety-six women of advanced maternal age were interviewed about the way they obtained information on prenatal diagnosis and about how the decision was made as to what procedure was to be performed (transabdominal chorionic villus sampling (TA-CVS) or amniocentesis). In the CVS group, women visited their physician or midwife earlier in pregnancy (mean 7.1 weeks) than those in the amniocentesis group (mean 10.7 weeks). The availability of prenatal diagnosis was not mentioned during the first antenatal visit in 55 per cent of women from the amniocentesis group as opposed to 25 per cent from the TA-CVS group. Approximately 40 per cent of women eligible for prenatal diagnosis did not receive any information from the referring body prior to counselling at our centre. Only 29 per cent of women who underwent amniocentesis had actually chosen this procedure; 71 per cent were too late to undergo TA-CVS at 12 weeks. It is concluded that information to the patient must be improved in order to ensure early referral for prenatal diagnosis.

Adult↗
PubMed1994

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and Southern blot.

The feasibility and accuracy of gene-specific molecular genetic diagnosis for congenital adrenal hyperplasia due to 21-hydroxylase deficiency was studied in a group of 24 pregnancies at 25% risk of carrying an affected fetus. Chorionic villus sampling was performed at 9-10 weeks' gestation. Southern analysis and polymerase chain reaction, followed by allele-specific hybridization for a panel of nine known mutations, were performed for each family. Mutations were identified in 95% of chromosomes examined; the molecular diagnosis was accurate in 96% of infants as confirmed by postnatal examination. The most common mutation identified was an A-to-G transition at base 656 in the second intron, the result of an apparent gene conversion. In one family, there had been a de novo mutation in intron 2, which was detected in the proband, but not in the mother or in the fetus. We conclude that first trimester prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency is feasible and accurate employing CYP21-specific probes.

Adrenal Hyperplasia, Congenital↗
PubMed2004

Cost utility of prenatal diagnosis and the risk-based threshold.

BACKGROUND: Prenatal testing guidelines recommend offering amniocentesis or chorionic villus sampling to women aged 35 years or older, or who have been found by screening to be at a similarly high risk of giving birth to an infant with Down's syndrome or another chromosomal abnormality. This threshold was chosen, in part, because 35 was the approximate age at which amniocentesis was cost beneficial when testing guidelines were developed in the USA in the 1970s. We aimed to assess the economic validity of thresholds based on age or risk for offering invasive prenatal diagnosis. METHODS: We did a cost-utility analysis of chorionic villus sampling and amniocentesis versus no invasive testing using data from randomised trials, case registries, and a utility assessment of 534 diverse pregnant women aged 16-47 years. FINDINGS: In the USA, compared with no diagnostic testing, amniocentesis costs less than US15000 dollars per quality-adjusted life year gained for women of all ages and risk levels. The results do not depend on maternal age or risk of Down's syndrome-affected birth. The cost-utility ratio for any individual woman depends on her preferences for reassurance about the chromosomal status of her fetus, and, to a lesser extent, for miscarriage. INTERPRETATION: Prenatal diagnostic testing can be cost effective at any age or risk level. Current guidelines should be changed to offer testing to all pregnant women, not just those whose risk of carrying an affected fetus exceeds a specified threshold.

Abortion, Spontaneous↗
PubMed1998

Prenatal diagnosis by chorionic villus sampling in multiple pregnancies prior to fetal reduction.

Ovulation induction and assisted-reproduction techniques have dramatically increased the incidence of high-risk multiple pregnancies over the past 10 years. Perinatal outcome may be improved by the use of multifetal reduction. The fetus to be reduced used to be selected only on technical grounds. We report on the results of prenatal diagnosis by chorionic villus sampling (CVS) during the first trimester in 32 multifetal pregnancies in which fetal reduction was requested. The mean gestational age at CVS was 10.5 weeks. Chromosomal analyses were available for all sampled fetuses, three of which were chromosomally abnormal. In 24 couples, fetal reduction to twin pregnancies was successfully carried out within 1 week after the CVS. In seven cases, the couples elected not to proceed with fetal reduction after receiving information that the chromosomal analysis was normal in all fetuses. Mean gestational ages at delivery were, respectively, 34.6 and 31.8 weeks in the reduced and the nonreduced groups (p = 0.04). No fetal losses occurred in either group; one neonatal death was observed after a preterm delivery because of preeclampsia in a twin pregnancy. Prenatal cytogenetic diagnosis during the first trimester in multiple pregnancies prior to fetal reduction appears to be feasible, accurate, and safe. Abnormal chromosomal results indicate the fetus(es) to be reduced. The parents' decisions not to proceed with the fetal reduction procedure, where chromosomal results in all the fetuses were normal, were unexpected.

Adult↗
PubMed2004

[Chorionic villus sampling and amniocentesis: invasive procedures and their risks in current prenatal diagnostic practice].

AIM: Since the two invasive diagnostic procedure, chorionic villus sampling and amniocentesis play important role in prenatal diagnosis, evaluation of their maternal and fetal risks is one of the most important part of genetic counselling. NEW DEVELOPMENTS: There are numerous factors that influence the specific risk of fetal aberrations or chromosomal abnormalities of the actual fetus. Risk factors and different conditions, modifying the procedure-related risk are discussed in the paper together with new chapters of prenatal diagnosis. CONCLUSION: The authors underline that individually tailored risk-assessment needs to be established during pre-procedure genetic counselling. This should take into account all the factors having impact on the specific risk in the actual pregnancy. Psychologic factors and recent scientific developments should also be discussed in order to give most information to the parents before they decide about taking any invasive procedure.

Amniocentesis↗