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PubMed1990

Transabdominal villus sampling in early second trimester: a safe sampling method for women of advanced age.

Transabdominal chorionic villus sampling (TA-CVS) was performed in 707 viable singleton pregnancies to exclude chromosomal abnormalities. Maternal age ranged between 36 and 49 years (mean 37.9 years); gestational age varied between 10.2 and 18.3 weeks (mean 13.3 weeks). In 639 women (90.4 per cent), a sufficient amount of chorionic tissue (greater than or equal to 10 mg) was obtained after one needle insertion; in 66 women (9.3 per cent) two insertions were needed. An abnormal chromosome pattern was established in 19 cases (2.9 per cent). Vaginal bleeding or spotting within 28 days after TA-CVS occurred in 11 cases (1.5 per cent). The completed follow-up of 678 chromosomally normal pregnancies showed an overall fetal loss rate of 2.6 per cent before 28 weeks. The overall perinatal mortality was 0.9 per cent. When relating fetal loss to gestational age at TA-CVS, this was 6.6 per cent in women sampled before 12 weeks against only 1.8 per cent after 12 weeks. At the same time, the percentage of fetal loss occurring within 2 weeks following the procedure was 75 and 30 per cent, respectively. It is suggested that these data reflect the decline in spontaneous abortion rate during this particular period of pregnancy. It is concluded that TA-CVS is an effective procedure which, when performed after the natural decrease of fetal loss, appears to be a safe option for women of advanced maternal age.

Abdomen↗
PubMed2000

The impact of placental malaria on gestational age and birth weight.

Maternal malaria is associated with reduced birth weight, which is thought to be effected through placental insufficiency, which leads to intrauterine growth retardation (IUGR). The impact of malaria on preterm delivery is unclear. The effects of placental malaria-related changes on birth weight and gestational age were studied in 1177 mothers (and their newborns) from Tanzania. Evidence of malaria infection was found in 75.5% of placental samples. Only massive mononuclear intervillous inflammatory infiltration (MMI) was associated with increased risk of low birth weight (odds ratio ¿OR, 4.0). Maternal parasitized red blood cells and perivillous fibrin deposition both were associated independently with increased risk of premature delivery (OR, 3.2; OR, 2.1, respectively). MMI is an important mechanism in the pathogenesis of IUGR in malaria-infected placentas. This study also shows that placental malaria causes prematurity even in high-transmission areas. The impact of maternal malaria on infant mortality may be greater than was thought previously.

Birth Weight↗
PubMedDate not supplied

The peritoneal route as a safe pathway for early in utero therapies: illustration by a 12-year follow-up after conservative management of severe Rhesus allo-immunization.

OBJECTIVE: We report a case of an extremely severe Rhesus allo-immunization treated very early in pregnancy 12 years ago. METHODS AND RESULTS: After chorionic villus sampling at 12 weeks for fetal blood phenotyping, two intraperitoneal transfusions at 14 and 15 weeks were given followed by two intravascular and seven exchange transfusions. A girl weighing 2,940 g was delivered vaginally at term after external cephalic version for breech presentation. To date her neurological and social development is normal. CONCLUSIONS: Since the success of haematopoietic stem cell transplantations for the treatment of congenital haematologic diseases could imply early and repetitive procedures, this observation enlightens the technical feasibility of such an invasive approach and its relative safety for subsequent development.

Adult↗
PubMedDate not supplied

Prenatal diagnosis of von Willebrand disease in a family.

We report the successful prenatal diagnosis of von Willebrand disease (VWD) in a family with type 3 severe VWD by the indirect method of gene tracking using polymorphic markers of intron 40 of the von Willebrand factor (VWF) gene. The couple had a daughter diagnosed to have type 3 VWD. Chorionic villus sampling (CVS) was done in the eleventh week of gestation of a subsequent pregnancy. The 3 VNTR polymorphic markers VWF1, VWF2 and VWF3 of intron 40 of the VWF gene were used for linkage studies. DNA in the affected VWD patient, the father and mother as well as in the CVS using VWF1 and VWF3 polymorphic markers revealed that the foetus was affected. The family chose to abort the foetus. In a subsequent pregnancy, similar investigation revealed a normal foetus. Prenatal diagnosis in families with a diagnosed case of VWD can be used to determine the status of the foetus. The technique is inexpensive.

Chorionic Villi Sampling↗
PubMed2005

Assessment of the gap between the fetal nasal bones at 11 to 13 + 6 weeks of gestation by three-dimensional ultrasound.

OBJECTIVE: To detect the presence of a gap between the fetal nasal bones at 11 to 13 + 6 weeks of gestation and to verify if this gap could lead to the erroneous diagnosis of absent nasal bone. METHODS: Three-dimensional (3D) ultrasound was used to assess the fetal nose in 450 singleton pregnancies, immediately after two-dimensional (2D) evaluation of the nasal bones and screening for chromosomal defects by a combination of maternal age and the measurement of fetal nuchal translucency at 11 to 13 + 6 (median, 12) weeks of gestation. A 3D volume of the fetal face was acquired and then analyzed using the multiplanar mode. A sequence of transverse views was used to confirm the presence or absence of the nasal bones and when they were present any visible gap between them was measured. A perfectly mid-sagittal plane was then examined to determine if the nasal bone was visible or not. RESULTS: In 421/450 (93.6%) cases the nasal bone was present during 2D ultrasound. Using the multiplanar mode of 3D ultrasound, in 83/421 (19.7%) fetuses a gap between the nasal bones could be demonstrated and in 36/83 (43.4%) cases the nasal bone was found to be absent in the perfect mid-sagittal view. In 29/450 (6.4%) cases the nasal bones were absent during the 2D scan. In the 3D assessment there was absence of both bones in 25/29 (86.2%) cases and absence of one of the two bones in 4/29 (13.8%) cases. Chorionic villus sampling demonstrated that the fetal karyotype was normal in 404 and abnormal in 46 cases, including 31 cases of trisomy 21. There was absence of one or both nasal bones in three (0.7%) of the chromosomally normal fetuses, in 19 (61.3%) with trisomy 21 and in seven (46.7%) with other chromosomal defects. CONCLUSIONS: At 11 to 13 + 6 weeks of gestation there is a gap between the nasal bones in about 20% of fetuses, and in about 40% of these cases in the perfect mid-sagittal plane the nasal bone may erroneously be considered to be absent.

Adolescent↗
PubMed1991

Characterization of seven DA/DAPI-positive bisatellited marker chromosomes by in situ hybridization.

Seven dicentric bisatellited marker chromosomes, ascertained at amniocentesis, chorionic villus sampling, and in blood from an abnormal liveborn were characterized cytogenetically. All seven markers demonstrated brilliant bands by the DA/DAPI technique corresponding to C-band positive regions. Although some dicentric DA/DAPI-positive bisatellited markers have been identified as inverted duplicated 15s, recent literature has suggested that DA/DAPI lacks specificity for chromosome 15. Our evaluation of DA/DAPI-positive bisatellited marker chromosomes by in situ hybridization shows that some originate from chromosome 15 whereas DA/DAPI negative bisatellited markers may not be derived from 15. The morphological variations noted in our studies are discussed with respect to nomenclature.

Amniocentesis↗
PubMed1995

Transabdominal chorionic villus sampling at 9.5-12 weeks' gestation. Placental vascular resistance and fetal cardiovascular responses.

Pregnancies subjected to chorionic villus sampling (CVS) have been associated with transverse limb reduction defects. This study was designed to examine the possible fetal cardiovascular responses to transabdominal CVS. We examined 42 patients referred for CVS between 9.5 and 12 weeks' gestation. CVS was performed transabdominally under ultrasonic guidance with a 20-gauge needle. Placental vascular resistance was evaluated by means of the umbilical artery pulsatility index. Fetal heart rate was ascertained automatically from two successive flow velocity waveforms. Paired t test, regression analysis, power analysis and normal distribution analysis were performed, and statistical significance was set at P < or = .05. Fetal heart rate increased with increasing amounts of tissue, but placental vascular resistance did not change. The earlier the gestation, the larger the amount of tissue obtained. Multiple regression analysis demonstrated that the fetal heart rate change was influenced by neither gestation nor placental vascular resistance after CVS. Analysis of the change (difference before and after CVS) in placental resistance and fetal heart rate according to gestational age and amount of tissue did not change the above findings. Although statistically significant fetal cardiovascular responses can be elicited in relation to the amount of chorionic villi obtained during transabdominal CVS, the clinical significance of these findings remains unclear, given the fact that all the fetuses in this group of patients were normal. These responses may be secondary to various degrees of placental hemorrhage and may represent part of or the total fetal response to various degrees of fetal blood loss.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed2001

Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families.

Sialic acid storage disorders, Salla disease (SD) and a severe infantile form of disease (ISSD), are recessively inherited allelic lysosomal storage disorders due to impaired egress of free sialic acid from lysosomes. Fourteen pregnancies at risk of adult-type free sialic acid storage disease, SD, were monitored by sialic acid assays, genetic linkage or mutation detection analyses using chorionic villus samples. Three affected and 12 unaffected fetuses were identified. The first studies were based on the sialic acid assays alone, but the location of the gene enabled the use of genetic linkage analysis and, more recently, the identification of the SLC17A5 gene and disease-causing mutations added yet another possibility for prenatal studies. A missense mutation 115C-->T (R39C) is present in 95% of all Finnish SD alleles, providing an easy and reliable means of diagnostic studies. Both molecular and biochemical (sialic acid assay) studies can be used for prenatal diagnosis of free sialic acid storage diseases.

Adult↗
PubMed1994

First trimester prenatal diagnosis: earlier is not necessarily better.

In the past few years considerable attention has been given to a relatively new method of prenatal diagnosis known as chorionic villus sampling (CVS). Because CVS can be performed in the first trimester it is hailed by many as a significant advance over amniocentesis. What has not been as publicized, however, are the disadvantages of CVS and earlier prenatal diagnosis. The emotional costs of CVS in terms of the greater number of both spontaneous and selective abortions following CVS, the use of CVS for sex selection and, because of the greater social acceptability of first trimester abortion, the possibility of increased pressure on women to undergo prenatal diagnosis by health insurance companies, medical professionals and government agencies, all need to be weighed against the advantages of early prenatal diagnosis.

Abortion, Induced↗
PubMed2005

DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency.

OBJECTIVES: Multiple acyl-CoA dehydrogenation deficiency (MADD) is a clinically heterogeneous disorder of mitochondrial fatty acid, amino acid, and choline oxidation due to mutations in the genes encoding electron transfer flavoprotein (ETF) or ETF ubiquinone oxidoreductase (ETFQO). So far, prenatal diagnosis of MADD has relied mostly on second-trimester biochemical analyses of amniotic fluid or cultured amniocytes. We report here on an alternative DNA-based approach for prenatal diagnosis in pregnancies at risk of MADD. METHODS: We used our knowledge of the mutational status in three unrelated families with a history of MADD to perform direct sequencing for the familial mutations using genomic DNA isolated from chorionic villus samples (CVS) at gestational week 10 to 11. RESULTS: Within two days, we were able to carry out accurate DNA-based prenatal testing in one pregnancy at risk of severe MADD, and in two pregnancies at risk of variant forms of MADD. CONCLUSION: This is the first report of DNA-based prenatal diagnosis of MADD. Our molecular approach is suitable for fast and reliable first-trimester prenatal diagnosis in pregnancies at risk of severe and variant forms of MADD.

Acyl-CoA Dehydrogenase↗
PubMed1997

Prenatal diagnosis of steroid 21-hydroxylase deficiency by analysis of polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) profiles.

The polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) profile analysis could be applied to the prenatal diagnosis of steroid 21-hydroxylase deficiency. We designed PCR primers to amplify most of the 21-hydroxylase gene, including all the mutations previously reported. PCR-SSCP analysis in eight patients showed at least one polymorphic site in each case. We confirmed that the mobility shifts in SSCP in an affected kindred were transmitted as a Mendelian trait. As these results indicated that PCR-SSCP profiles could be used for DNA-based diagnosis, we attempted to use this technique for prenatal diagnosis. DNA was obtained by chorionic villus sampling of a fetus and PCR-SSCP profiles were analysed in the PCR-amplified fragments in which the mobility shifts had been observed in the SSCP of the proband. We concluded that the fetus was a carrier. Direct nucleotide sequencing and allele-specific oligonucleotide hybridization confirmed that the fetus was heterozygous. At birth, the infant showed no signs of virilization or of abnormal endocrine findings on laboratory study. The results suggest that this new application of PCR-SSCP has advantages over conventional RFLP analysis and is useful in making a prenatal diagnosis of steroid 21-hydroxylase deficiency both rapidly and accurately.

Adrenal Hyperplasia, Congenital↗
PubMed1997

Fetal nucleated erythrocytes (NRBCs) in chorionic villus sample supernatant fluids: an additional source of fetal material for karyotype confirmation.

Fetal erythrocytes leak from the fetal capillaries at the time of chorionic villus removal. The purpose of this study was to determine if fetal nucleated erythrocytes (NRBCs) could be isolated from the chorionic villus sampling (CVS) supernatant fluid and used as an additional source of fetal material in order to confirm the fetal karyotype in cases of CVS mosaicism. One hundred CVS supernatant fluids were studied by simultaneous immunophenotyping, using a mouse antifetal haemoglobin antibody, UCH gamma, combined with fluorescent in situ hybridization (FISH) analysis using X- and Y-specific DNA probes. A chromosome 18 probe was also used in the case of a known male fetus with trisomy 18. Fetal haemoglobin (HbF)-positive cells were identified in 73 supernatant fluids and HbF-positive nucleated cells were present in 60 samples. The number of cells detected per sample showed great variation among the individual samples. FISH analysis was performed in 41 cases. FISH prediction of the fetal gender was concordant with the CVS karyotype in all cases, and the fetal trisomy 18 was correctly verified. In five cases in which Y sequences were detected, a small number of HbF-positive cells with two X signals were also identified; interestingly, in three of the five cases, the mother was a beta-thalassaemia carrier. This technique can be used as a quick and accurate method for the immediate verification of CVS results in cases of mosaicism, thus avoiding second-trimester amniocentesis.

Antibodies, Monoclonal↗
PubMed2000

Non-radioactive Southern hybridization for early diagnosis of alpha-thalassemia with southeast Asian-type deletion in Taiwan.

Alpha-thalassemia has been estimated to account for over 60% of hydrops fetalis cases in Taiwan. The most common genotypic lesion found in alpha-thalassemia-1 cases in Taiwan is deletion of a large segment of the alpha-globin gene cluster, termed the Southeast Asian-type deletion (-SEA/; further referred to as SEA-type deletion). Seven chorionic villus samples (CVS) from pregnancies of couples both heterozygous for SEA-type deletion were studied. Non-radioactive Southern-blot hybridization using the dig-alkaline phosphatase detection system was developed to fulfill this purpose. The results were compared with corresponding polymerase chain reaction (PCR) data to elucidate the effectiveness of these two protocols in the diagnosis of the SEA-type deletion. The data showed that of the seven CVS, three demonstrated a distinctive band pattern, indicating their homozygous status of SEA-type deletion, whereas two showed heterozygous patterns, and the other two were free of the deletion. Homozygosity of the deletion was confirmed by Southern-blot hybridization performed on DNA samples extracted from the abortus tissue. However, two of the three cases with SEA-type deletion showed heterozygous PCR results. Maternal cell contamination could be responsible for the artifacts in the PCR results, but the influence due to the contamination is minimal in non-radioactive Southern-blot hybridization. We concluded that PCR is suitable for screening of carrier adults with SEA-type deletion, and non-radioactive Southern hybridization is ideal for early prenatal diagnosis of the SEA-type deletion.

Asia, Southeastern↗
PubMed2002

Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis.

Netherton syndrome (NS) is a severe autosomal recessive ichthyosis with no specific treatment or prenatal diagnosis available at present. The recent identification of SPINK5, which encodes a serine protease inhibitor, as the defective gene enables DNA based prenatal diagnosis to be carried out. Here we report the first direct molecular prenatal diagnosis of a lethal form due to a recurrent SPINK5 mutation in three consanguineous Turkish families. XmnI restriction enzyme digestion and DNA sequencing demonstrated that each deceased affected child was homozygous for mutation 153delT inherited from each parent. Analysis of fetal DNA from amniotic fluid cells in Family 1 and from a chorionic villus sampling in Family 3 showed that the fetus was heterozygous for 153delT in both cases. The pregnancies were carried to term and the newborns were unaffected. In Family 2, fetal DNA analysis from chorionic villus biopsy showed in a first pregnancy that the fetus was homozygous for 153delT. The pregnancy was terminated at 13 weeks and DNA analysis of fetal keratinocytes confirmed the prenatal prediction. In a second pregnancy in Family 2, fetal DNA analysis showed heterozygosity for 153delT, and the pregnancy was continued. Direct SPINK5 mutation analysis in families at risk for NS represents the first early, rapid and reliable method for prenatal diagnosis of this life threatening form of ichthyosis.

Amniocentesis↗
PubMed1997

Trends in the use of prenatal diagnosis in New York State and the impact of biochemical screening on the detection of Down syndrome: 1984-1993.

Our purpose was to examine trends over time in the use of prenatal cytogenetic diagnosis by New York State women from 1984 to 1993 in the context of new technologies in prenatal diagnosis and pregnancy management. Data are from the New York State Chromosome Registry and represent 95-98 per cent of all New York State women tested. Utilization rates were calculated separately for women under 35 years of age and for those aged 35 years and over. Analysis of longitudinal trends also utilized data from 1979 to 1983. Utilization by women under age 35 increased steadily over time but levelled off after 1986 among older women. Each year, there was an increase in the proportion of tests performed during the first trimester. The proportion of first-trimester tests performed with chorionic villus sampling (CVS) decreased from a maximum of 68 per cent in 1987 to 10 per cent in 1993. The percentage of tests performed due to 'advanced maternal age' decreased over time while 'suspected fetal pathology' categories increased in frequency. The increase in prenatal diagnosis tests performed because of abnormal maternal serum markers was associated with an increase over time in the number and proportion of Down syndrome fetuses detected prenatally and a slight decrease in the prevalence of Down syndrome among live births. The trends reported here parallel improvements in biochemical screening for Down syndrome and published suggestions that all women aged 30 and over are offered prenatal diagnosis.

Adult↗
PubMed2006

Maternal age-specific fetal loss rates in Down syndrome pregnancies.

OBJECTIVES: Pregnancies affected by Down syndrome (DS) have a greater risk of spontaneous fetal loss than those that are unaffected. In this article, we investigate the relationship between maternal age and the risk of spontaneous fetal loss in DS pregnancies. METHODS: Fetal loss at different maternal ages were estimated by survival analysis using follow-up of 5177 prenatally diagnosed cases. The maternal age effect on loss rate was subsequently confirmed by a re-analysis of published comparisons of the maternal age-specific prevalence of DS at different gestational ages. RESULTS: The average fetal loss rate between the time of chorionic villus sampling (CVS) and term was 32% (95% CI: 26-38), increasing from 23% (95% CI: 16-31) for women aged 25 to 44% (33-56) for women aged 45. The average fetal loss rate between the time of amniocentesis and term was 25% (21-31), increasing from 19% (14-27) to 33% (26-45) across the same age range. CONCLUSION: The fetal loss rate in DS pregnancies increases with maternal age, and this has consequences when estimating the live birth prevalence of DS in the presence of prenatal diagnosis and termination, and when assessing the performance of prenatal screening techniques.

Aborted Fetus↗
PubMed1995

Experience with 1251 transcervical chorionic villus samplings performed in the first trimester by a single team of operators.

OBJECTIVE: We report our experience with 1251 chorionic villus samplings (CVS) performed by a single team of operators. STUDY DESIGN: From April 1984 through August 1993, 1251 CVS were performed in 1236 pregnancies. The transcervical route was used in the vast majority and the sampling was performed during the 9th through 13th weeks of gestation in 1193 cases (96%). Follow-up was ensured to tabulate the pregnancy-related complications and fetal loss rate until 28 weeks' gestation. Pregnancy outcome was documented for all but 36 women (3%). RESULTS: Most of the tests (72%-891/1236 pregnancies) were performed for advanced maternal age (> or = 35 years). The percentage of each indication remained relatively stable, around 90% for chromosomal indications and between 8 and 11% for DNA studies. Samples adequate for diagnosis were obtained in one or two sessions in 1179 pregnancies (95%). The rate of spontaneous abortion possibly related to CVS was 2.5% (28/1092). Mosaicism confined to the placenta was found in 23 cases (1.8%). The pregnancy outcome was known in 1098 pregnancies. There were 10 perinatal losses (0.9%) and nine congenital malformations (0.8%). No transverse limb defects were observed. The rate of premature deliveries (4.6%) and of small for gestational age were comparable to the general uninstrumented population. CONCLUSION: CVS is a safe and effective mode of antenatal diagnosis when performed by a single team of experienced operators.

Adult↗
PubMed2001

[Methods and consequences of pre-natal diagnostics].

Prenatal medicine is a young subdiscipline of modern obstetrics. It applies diagnostic methods like amniocentesis, chorionic villus sampling and foetal blood sampling. The latter is not only a diagnostic procedure but opens access to the foetal circulation and therefore to foetal therapy. Aim of prenatal diagnostic procedures is the most exact diagnosis of the foetal condition as basis for rational obstetrical decisions. If a foetal disease is diagnosed, decisions are in principal similar to the postnatal situation, but therapeutic options are reduced. Decision making in prenatal medicine always has to take maternal and foetal interests into account. We have to consider that not the methods but the intention and actions of the persons involved may cause an ethical dilemma. It must be our aim to use the methods of prenatal medicine with the utmost responsibility.

Amniocentesis↗