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PubMed2006

Prospective study of 22q11 deletion analysis in fetuses with excess nuchal translucency.

OBJECTIVE: The purpose of this study was to determine the frequency of 22q11 deletions (DiGeorge, velocardiofacial syndromes) in chromosomally normal fetuses with excess nuchal translucency. STUDY DESIGN: We evaluated chorionic villus sampling (CVS) samples submitted with an indication of excess nuchal translucency. If chromosome analysis was normal, permission was obtained to perform 22q11 microdeletion fluorescence in situ hybridization analysis. By Fisher exact test, the null hypothesis that there is no association between excess nuchal translucency and 22q11 deletions was tested. RESULTS: Among 239 CVS samples from fetuses with excess nuchal translucency, 93 (39%) were chromosomally abnormal. Of the remaining 146 specimens, 80 CVS samples were chromosomally normal, had documentation of nuchal translucency > 3.0 mm, and were included in the study at the referring obstetrician's request. None of the 80 fetuses with an increased nuchal translucency and normal karyotype demonstrated a 22q11 microdeletion. By Fisher exact test, the probability of 80 fetuses with excess nuchal translucency having no deletions of chromosome 22 was not significantly different than the expected rate of 0.18% (P value = 1). CONCLUSION: Routine 22q11 microdeletion analysis for fetuses with excess nuchal translucency is not indicated. Instead, we recommend storing an extra unbanded slide from the cultured CVS material to permit 22q11 FISH analysis should a cardiac malformation be identified later by fetal echocardiography.

Chorionic Villi Sampling↗
PubMed2002

[Chromosomal mosaicism in the placenta].

Chromosomal mosaicism is when two (or more) cell lines with different chromosomal complements are found within one individual. Mosaicism can be found in all tissues but may also be confined to a specific tissue. During pregnancy the aberrant cell line, often with a trisomy, may be confined to the placenta. In prenatal diagnosis, more specifically in chorionic villus sampling, this can interfere with the results and may necessitate follow-up investigation with amniotic fluid cell culture. Confined placental mosaicism can have no visible effect whatsoever on foetal development, but can also lead to serious foetal problems, depending on the chromosome involved. Uniparental disomy in the diploid cell line of the mosaicism may also have a negative effect on the foetal phenotype. In the case of the reverse situation, where the normal diploid cell line is confined to the placenta and the foetus has trisomy 13 or 18, it has been suggested that the diploid cell line might play a role in intrauterine survival; a recent study by the present authors could not confirm this view.

Chorionic Villi Sampling↗
PubMed1996

Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1).

BACKGROUND: Epidermolysis bullosa (EB) is a group of heritable diseases that manifest as blistering and erosions of the skin and mucous membranes. In the dystrophic forms of EB (DEB), the diagnostic hallmark is abnormalities in the anchoring fibrils, attachment structures beneath the cutaneous basement membrane zone. The major component of anchoring fibrils is type VII collagen, and DEB has been linked to the type VII collagen gene (COL7A1) at 3p21, with no evidence for locus heterogeneity. Due to life-threatening complications and significant long-term morbidity associated with the severe, mutilating form of recessive dystrophic EB (RDEB), there has been a demand for prenatal diagnosis from families with affected offspring. MATERIALS AND METHODS: Intragenic polymorphisms in COL7A1 and flanking microsatellite markers on chromosome 3p21, as well as detection of pathogenetic mutations in families, were used to perform PCR-based prenatal diagnosis from DNA obtained by chorionic villus sampling at 10-15 weeks or amniocentesis at 12-15 weeks gestation in 10 families at risk for recurrence of RDEB. RESULTS: In nine cases, the fetus was predicted to be normal or a clinically unaffected carrier of a mutation in one allele. These predictions have been validated in nine cases by the birth of a healthy child. In one case, an affected fetus was predicted, and the diagnosis was confirmed by fetal skin biopsy. CONCLUSIONS: DNA-based prenatal diagnosis of RDEB offers an early, expedient method of testing which will largely replace the previously available invasive fetal skin biopsy at 18-20 weeks gestation.

Amniocentesis↗
PubMed2001

Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy.

Two cases of trisomy 4 mosaicism are reported including one with molecularly confirmed uniparental disomy (UPD) of chromosome 4. Cytogenetic analysis of a chorionic villus sample (CVS) in Case 1 showed complete trisomy 4 in trophoblast and diploidy in chorionic stroma. Amniotic fluid analysis demonstrated a 46,XX complement. After intrauterine fetal death at 30 weeks, molecular analysis confirmed the presence of trisomy 4 of maternal meiotic origin, while fetal tissues showed maternal UPD for chromosome 4. Cultured CVS in Case 2 revealed trisomy 4 in 2/30 cells analyzed. This pregnancy resulted in a healthy livebirth with biparental inheritance of chromosome 4. Molecularly confirmed UPD4 has not been previously reported, and therefore, although the adverse outcome in Case 1 is likely due to the trisomy 4 in the placenta, an imprinting effect associated with UPD4 cannot be excluded.

Adult↗
PubMed1993

Origin of extraembryonic mesoderm in experimental animals: relevance to chorionic mosaicism in humans.

Confined chorionic mosaicism, a discordance in the karyotype between the fetus and placenta, occurs in 1% of chorionic villus sampling (CVS) cases. While the cytogenetic discrepancies occurring between different fetal tissues may pose clinical dilemmas, they can also be viewed as a natural experiment to determine early cell lineage relationships in the human. We reviewed extensive data in experimental animals to define the origin of the human extraembryonic mesoderm. The extraembryonic mesoderm in humans is an important component of the CVS culture preparation. Previously, the extraembryonic mesoderm was thought to originate in the cytotrophoblast or primitive streak. More recent evidence supports its origin from the yolk sac, which does not always correlate with the fetal karyotype. We formulated a model of early human cell lineage and employed it to clarify clinical cases of chorionic mosaicism in two large published studies.

Animals↗
PubMed1988

Transabdominal chorionic villus sampling. Clinical experience of 1159 cases.

The efficacy and risks of transabdominal free-hand ultrasound-guided fine needle aspiration technique were evaluated in 1159 pregnancies submitted to chorionic villus sampling (CVS) in the first trimester and early in the second trimester. An adequate amount of chorionic tissue was obtained by two needle insertions in 99.7 per cent of cases, and a second tapping was needed in 3.5 per cent of cases. A local peritoneal reaction was the only early complication clearly related to the procedure, and it occurred in 0.3 per cent of cases without any adverse effect on the maternal and fetal outcome. The correct abortion rate in 716 consecutive concluded pregnancies was 2.4 per cent, while the rate of late obstetrical complications and perinatal mortality and morbidity compares favourably with the rates in the general population. Because of its simplicity and practicability, transabdominal aspiration is the procedure of choice and is especially recommended for intensive CVS routine conditions.

Adult↗
PubMed2004

Prenatal diagnosis of sickle cell anemia in twin pregnancies and identification by VNTRs.

BACKGROUND: Sickle cell anemia (SCA) is an inherited disorder of hemoglobin synthesis that is characterized by life-long severe hemolytic anemia, attacks of pain crisis, and chronic organ system damage. In this study, prenatal diagnosis was performed to three couples (families A, B, and C) with twin pregnancies who were at risk for SCA. METHODS: The SCA carrier state of the couples were confirmed at molecular level. Chorionic villus samples (CVS) of twins were obtained at 10-12 weeks of gestation. Amplification refractory mutation system (ARMS) and restriction fragment length polymorphism (RFLP) techniques were applied to determine and confirm the presence of the sickle cell anemia of the fetuses. Identification of each twin, confirmation of parentage and elimination of maternal contamination of chorionic villus samples were ruled out by variable number of tandem repeats (VNTR) analysis of four different loci [D1S80 (pMCT118), ApoB, IgJH, D4S95]. RESULTS: We found that one of the fetuses was heterozygous for SCA and the other was normal in family A; in family B both fetuses were heterozygous and in family C both fetuses were normal. CONCLUSION: Prenatal diagnosis is the major way of prevention of the genetic disorders including sickle cell anemia. Prenatal diagnosis of twins contains additional risks such as confusion in differentiation leading to false molecular diagnosis. VNTR loci analysis is a useful tool and can be safely used for the elimination of all problems mentioned above.

Anemia, Sickle Cell↗
PubMed1992

The role of abnormal fetal heart rate in scheduling chorionic villus sampling.

OBJECTIVE: To assess the value of fetal heart rate (FHR) measurements in predicting spontaneous fetal loss in pregnancies scheduled for chorionic villus sampling (CVS). DESIGN: A prospective descriptive study. SETTING: Two hospital departments of obstetrics and gynaecology in Israel. SUBJECTS: 114 women between 9 and 11 weeks gestation scheduled for chorionic villus sampling (CVS). INTERVENTIONS: Fetal heart rate was measured by transvaginal Doppler ultrasound and compared with a monogram established from 75 fetuses. Whenever a normal FHR was recorded, CVS was performed immediately. RESULTS: 106 women had a normal FHR and underwent CVS; two of these pregnancies ended in miscarriage. In five pregnancies no fetal heart beats could be identified and fetal death was diagnosed. In three pregnancies an abnormal FHR was recorded and CVS was postponed; all three pregnancies ended in miscarriage within 2 weeks. CONCLUSION: Determination of FHR correlated with crown-rump length could be useful in predicting spontaneous miscarriage before performing any invasive procedure late in the first trimester.

Adult↗
PubMed1994

Early invasive prenatal diagnosis in HBsAg-positive women.

From 1982 to 1989, pregnant women in two large city hospitals in The Netherlands had serum samples screened for hepatitis B surface antigen (HBsAg). Infants of mothers found to be HBsAg-positive received hepatitis B immune globulin immediately after birth and hepatitis B vaccine in the first year of life. Blood samples of infants were regularly tested for HBsAg and antibodies directed against HBsAg. A retrospective analysis of the pregnancy outcome in HBsAg-positive women who had invasive tests for prenatal diagnosis was carried out to determine whether amniocentesis and chorionic villus sampling (CVS) are risk factors for the intrauterine transmission of the hepatitis B virus. Amniocentesis was carried out in 17 HBsAg-positive women and CVS in one case. Only two women were HBsAg- and HBeAg-positive. Prenatal diagnosis led to the termination of pregnancy for fetal chromosome abnormality in three cases. The remaining 15 pregnancies were uneventful; all infants were negative for HBsAg and developed an active immune response to the vaccine. These data suggest that amniocentesis in HBsAg-positive women constitutes a low risk for the intrauterine transmission of the hepatitis B virus, but definite conclusions in HBeAg-positive women cannot be drawn.

Adult↗
PubMed1993

Report of National Institute of Child Health and Human Development Workshop on Chorionic Villus Sampling and Limb and Other Defects, October 20, 1992.

A Workshop on Chorionic Villus Sampling (CVS) was convened by the National Institute of Child Health and Human Development (NICHD) and the American College of Obstetricians and Gynecologists at the National Institutes of Health on April 17, 1992, to discuss recent reports of an increased occurrence of malformations of the upper and lower limbs and oral structures among CVS-exposed infants. We summarize here the defects described in the CVS-exposed infants, the retrospective reassessments of published studies of the safety of CVS, the prevalence of limb deficiencies in infants not exposed to CVS, the status of the 7-9 week (conception or fertilization age) embryo, and the relevant human and animal experimental models of how CVS might be harmful to the embryo or fetus.

Chorionic Villi Sampling↗
PubMedDate not supplied

First trimester fetal heart rate: response to chorionic villus sampling in the chromosomally normal fetus.

The objective of this prospective study was to evaluate the fetal heart rate before and after the procedure and whether this had any effect on the risk of pregnancy loss following chorionic villus sampling (CVS) and chromosomally normal pregnancies. Four hundred and seventeen pregnancies were evaluated. The heart rate before the procedure was similar for both male and female fetuses. Significant procedure-related changes in fetal heart rate occurred only with male fetuses undergoing the transabdominal CVS technique. Fetal heart rate decelerations following CVS were more common than accelerations. Fetal heart rate changes following CVS were not able to predict the pregnancies ending in spontaneous abortion. Transabdominal CVS had a lower loss rate after the procedure, compared to the transcervical technique (p = 0.0001). Small-for-date fetuses had a higher loss rate after the procedure compared to normal-sized fetuses (p = 0.001).

Abortion, Spontaneous↗
PubMed2002

Antenatal diagnosis of hereditary fetal growth retardation with aminoaciduria, cholestasis, iron overload, and lactic acidosis in the newborn infant.

OBJECTIVE: A prenatal diagnosis of the fetus for a mother of two previously deceased infants who died from the recently described autosomal recessive disease (OMIM 603358). The infants presented with intrauterine growth retardation, aminoaciduria, cholestasis, iron overload, severe lactic acidosis, and early death (GRACILE syndrome). STUDY DESIGN: DNA was extracted from the fibroblasts and tissue samples of the deceased infants, parental leukocytes, and from a chorion villus biopsy in the next pregnancy. Haplotypes were determined using the relevant markers flanking the disease-associated region of chromosome 2. RESULTS: Both deceased infants were homozygous for the four critical markers. The fetal haploptypes were identical to those of the siblings and the pregnancy was terminated. The iron content of the fetal liver was increased (5000 microg/g) compared with the controls, with a marked iron accumulation in the Kupffer cells. CONCLUSIONS: Antenatal diagnosis can be performed based on linkage analysis in families with at least one affected child because the disease locus has been assigned to a restricted chromosomal region. Typical histological abnormalities may be present in early fetal life.

Abortion, Induced↗
PubMed1991

Genetic diagnosis before the eighth gestational week.

Transabdominal chorionic villus sampling (CVS) by a freehand, ultrasound-guided technique was offered to 210 high-genetic-risk women at 6-7 weeks' gestation. It was carried out in 201 cases and postponed in nine cases (4.3%). Sampling was successful in 86 and 100% of cases after the first and the second needle insertions, respectively. Chorionic tissue specimens weighed at least 20 mg in 86% of cases, and only 2% were below 10 mg. Early complications were present in 7.9% of cases, apparently without any adverse effect on maternal or fetal outcome. The rate of fetal loss was 3.5%. Genetic diagnosis was concluded in 1-3 days by rapid diagnostic methods. Although more extensive laboratory and clinical experience is necessary to evaluate adequately the safety of early transabdominal CVS, it may be advantageous to offer this technique to certain high-genetic-risk patients. The availability of genetic diagnosis before the eighth week makes clinical abortion by antiprogestins and prostaglandins a viable option in cases of affected embryos.

Adult↗
PubMed1997

Transabdominal chorionic villus sampling in the second and third trimesters of high-risk pregnancies.

Late chorionic villus sampling (placental biopsy) under ultrasound guidance was carried out in 800 (80 per cent) cases in the second trimester and 200 (20 per cent) cases in the third trimester of pregnancy. Out of 1000 placental biopsies, 250 (25 per cent) were performed because of suspicious ultrasonographic findings. Colour Doppler was used to investigate the uteroplacental and fetal vessels in 300 (30 per cent) pregnancies before and after late chorionic villus sampling (CVS). In the same group, mean serum alpha-fetoprotein (AFP) levels increased after sampling in 20 (6.7 per cent) patients. In 20 patients (2 per cent), complications between sampling and delivery were found. A placental haematoma measuring 0.5-1 ml was seen at the sampling site in 4 (0.4 per cent) patients in the second trimester of pregnancy and in 3 (0.3 per cent) in the third trimester. Two (0.2 per cent) demonstrated fever, but there were no instances of chorioamnionitis. There were only three (0.3 per cent) spontaneous abortions 4-6 weeks after late CVS. However, there was no correlation between AFP elevation, placental haematoma, Doppler measurements, and spontaneous abortion. Cytogenetic findings were obtained in 990 (99 per cent) of 1000 placental samplings. We found 60 (6.0 per cent) chromosomal abnormalities. In the group with suspicious ultrasonic findings (250 cases), we found significant oligohydramnios in 125 (50 per cent) and significant polyhydramnios in 60 (24 per cent), and 45 (18 per cent) had chromosomal abnormalities. Among the 60 patients with chromosomal abnormalities, ultrasonographic findings in 10 (16.7 per cent) were detected after the 20th week of pregnancy. There were no significant differences in mean pulsatility index (PI) in the uteroplacental and fetal vessels before and after late CVS. Preliminary data from five trisomic fetuses (three trisomy 21 and two trisomy 18) showed abnormally increased umbilical PI and abnormally decreased middle cerebral artery PI.

Adult↗
PubMed1989

The European collaborative study on mosaicism in chorionic villus sampling: data from 1986 to 1987.

Data on a total of 11,855 diagnostic chorionic villus samples obtained in the years 1986 and 1987 were compiled from a questionnaire filled in by 36 European cytogenetic centres. Mosaicism was reported in 141 cases. The cytogenetic findings were followed by induced abortion in 24 cases. Spontaneous abortion was observed in nine mosaic pregnancies, a rate not significantly different from that observed for CVS in total. Mosaicism was found in 1.2 per cent of analyses by direct analysis/short-term culture, in contrast to the 0.6 per cent found after long-term culture. Evidence for fetal non-mosaicism was found in 99 of the 141 cases. The finding of mosaicism in first-trimester CVS should always elicit further analyses, preferably after amniocentesis, to substantiate the suspected fetal chromosome aberration.

Chorionic Villi Sampling↗
PubMed1992

Chorionic mosaicism: association with fetal loss but not with adverse perinatal outcome.

Cytogenetic data from the United States NICHD collaborative study of chorionic villus sampling (CVS) were used to evaluate the clinical significance of chorionic mosaicism. The 10,754 patients with normal cytogenetic results were compared with 108 patients (1.0 per cent) with placental mosaicism and 181 patients (1.6 per cent) with pseudo-mosaicism. Of the pregnancies intended to continue, the pregnancy loss rate was significantly greater in patients with placental mosaicism than in the cytogenetically normal cohort (8.6 vs. 3.4 per cent, p less than 0.05). However, there was no difference in the frequencies of abruptio placenta, preterm labour or delivery, small-for-gestational-age newborns, pregnancy-induced hypertension, or neonates with Apgar scores less than 7.

Abortion, Spontaneous↗
PubMed2003

Prenatal screening: invasive diagnostic approaches.

INTRODUCTION: Fetal invasive procedures provide ovular samples that are helpful in establishing diagnosis, etiology, and prognosis when ultrasonography and MRI show a central nervous system (CNS) anomaly or when the fetus is at high risk of such pathology. PROCEDURES: Invasive procedure techniques are amniocentesis, fetal blood sampling (FBS), and chorionic villous sampling (CVS). They provide material for fetal DNA, biochemical analysis, or identification of various infectious agents. COMPLICATIONS: The main complications are miscarriage and premature delivery. Counseling the parents about the risks and benefits of these procedures is therefore mandatory. DISCUSSION: Amniocentesis may be performed as early as 15 weeks' gestation and is the most widely used invasive technique. FBS is performed after 18 to 20 weeks of pregnancy and CVS may be carried out after 11 weeks. Indications for invasive techniques include DNA and cytogenetic analysis, diagnosis of neural tube defects, identification of infectious agents (toxoplasmosis, cytomegalovirus, rubella, and varicella), and etiology of intracerebral hemorrhage (fetal platelets and coagulation factors).

Amniocentesis↗
PubMed2002

Prenatal evaluation for fetal surgery.

The selection of fetuses that may benefit with in utero surgery is being developed. Noninvasive and invasive prenatal diagnosis techniques are utilized to try and gain as much knowledge about the fetus so that the appropriate counseling of parents can be undertaken. The most common invasive techniques are amniocentesis and chorionic villus sampling for fetal karyotyping and genetic diagnosis. Noninvasive techniques include ultrasound (2D and 3D), fetal echocardiography and magnetic resonance imaging. Additional techniques such as specific Doppler evaluation of vascular components, new techniques to look at fetal electrocardiograms and the use of computer tomography are also considered. The most common conditions for which in utero fetal surgery is also being considered are twin to twin transfusion syndrome, myelomeningocele, sacrococcygeal teratoma, cystic adenomatoid malformation of the lung with fetal hydrops and other monochorionic twin abnormalities (severe discordant birth defects or twin reversal arterial perfusion sequences). Ongoing evaluation of the sensitivity, specificity, positive and negative predicted values of these evaluation tools is required so that appropriate selection of fetuses for the surgery can be made.

Amniocentesis↗