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PubMed1991

Prenatal diagnosis, prenatal screening, and the rise of the tentative pregnancy.

More and more medical technologies are becoming available for the early detection of congenital abnormalities, such as amniocentesis, chorionic villus sampling, and ultrasound scanning. Recent research has shown that maternal serum can provide a wealth of information on the unborn fetus and that the testing method lends itself to mass screening. Although screening will prevent a great deal of grief, such developments also lead to extreme medicalization of pregnancy. However, owing to the fact that people show a strong desire to avert every possible approaching calamity, the "tentative pregnancy" seems to be unavoidable.

Chorionic Villi Sampling↗
PubMed1999

Early pregnancy prenatal diagnostic testing: risks associated with chorionic villus sampling and early amniocentesis and screening options.

Routine amniocentesis is an established test for the prenatal diagnosis of chromosome abnormalities and many single-gene conditions. Chorionic villus sampling and early amniocentesis, which are available in some centers, enable families to receive prenatal test results earlier in the pregnancy. There are concerns regarding the safety of early pregnancy testing because of increased risks for pregnancy loss and possible risks for birth defects. The use of first trimester testing has changed because of these concerns, and alternative methods of screening pregnancies at risk for a chromosome abnormality are being investigated.

Adult↗
PubMed1993

Limb deficiencies, chorion villus sampling, and advanced maternal age.

Record linkage between a prenatal diagnosis register and a congenital malformation register in the state of Victoria, Australia, has enabled further evaluation of the suggested association between limb deficiencies and early chorion villus sampling (CVS). We found 3 anomalies in this category after later CVS (i.e., 9 weeks and beyond), but our data suggest that advanced maternal age may be a risk factor for both terminal and all limb deficiencies. The data from Victoria are tabulated with data obtained from other registers. Different birth prevalence figures are obtained by different registers, therefore limiting comparisons between registers.

Adult↗
PubMed1992

Factors associated with multiple-pass procedures during chorionic villus sampling: a video analysis.

Multiple placental passes during chorionic villus sampling (CVS) increase the risk of fetal loss; however, specific factors that predispose to repeat aspiration have not been delineated. To identify anatomic and technical variables associated with multiple-pass procedures, a detailed review of 205 videotaped CVS procedures (single pass = 163; multiple pass = 42) was performed, blinded to pregnancy outcome. The route of sampling did not influence the need for multiple aspiration attempts (transabdominal--30/135; transcervical--12/70), nor was placental location alone discriminatory. However, the combination of a posterior placenta and uterine retroversion was observed more frequently in the multiple-pass cohort (8/42 vs. 9/163; p less than 0.05). In transabdominal cases, suboptimal needle placement (e.g., perpendicular to the placental long axis) was more common in the initial aspiration of a multiple-pass procedure (21/30 vs. 38/105; p less than 0.01), while limited penetration of the catheter tip (e.g., just inside the placental edge) characterized a majority of multiple-pass cases in the transcervical subset (7/12 vs. 3/58; p less than 0.0001). A case-control cohort was constructed to evaluate the impact of these technical variables on sampling efficacy, independent of the influence of uterine position and placental site. In that analysis, suboptimal location and/or orientation of the sampling device remained characteristic of multiple-pass cases. We conclude that further reduction in the frequency of multiple-pass procedures might be achieved by consistent placement of the device tip in the central placental mass. Unlike amniocentesis, where any point of amnion entry will suffice, this technical nuance should be emphasized with CVS to maximize the single-pass success rate.

Case-Control Studies↗
PubMed1995

Prenatal diagnosis of trisomy 8 mosaicism in CVS after abnormal ultrasound findings at 12 weeks.

We describe a case of trisomy 8 mosaicism in which fetal chromosome analysis was prompted by ultrasound abnormalities, i.e., hygroma colli and dilatation of the renal pelves. Chorionic villus sampling (CVS) was performed, with a false-negative result on direct karyotype analysis, although cultured trophoblasts revealed trisomy 8 mosaicism. Fetal autopsy confirmed the abnormalities found on ultrasound examinations and fetal tissue examination showed different levels of trisomy 8 mosaicism. To our knowledge, this is the first prenatal diagnosis of trisomy 8 made on ultrasound findings.

Abnormalities, Multiple↗
PubMed1998

Minute chromosomal rearrangements detected prenatally by fluorescence in situ hybridization.

Initial approaches to prenatal diagnosis from fetal karyotyping involved application of standard cytogenetic techniques. However, when fetal samples, such as chorionic villus cells or amniocytes are used, small chromosome rearrangements cannot be easily identified because they lack a distinct banding pattern. We report here two cases with minute chromosome rearrangements detected prenatally by fluorescence in situ hybridization. The use of this technique allowed precise identification of fetal chromosome abnormalities, demonstrating its usefulness for characterizing conditions that would be difficult to diagnose correctly with conventional banding methods alone.

Adult↗
PubMed1995

Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood.

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited disease with a carrier frequency of approximately 1:100 in most Caucasian populations. The disease is implicated in sudden unexpected death in childhood. A prevalent disease-causing point mutation (A985G) in the MCAD gene has been characterized, thus rendering diagnosis easy in the majority of cases. Since the clinical spectrum of MCAD deficiency ranges from death in the first days of life to an asymptomatic life, there are probably other genetic factors--in addition to MCAD mutations--involved in the expression of the disease. Thus, families who have experienced the death of a child from MCAD deficiency might have an increased risk of a seriously affected subsequent child. In such a family we have therefore performed a prenatal diagnosis on a chorionic villus sample by a highly specific and sensitive polymerase chain reaction (PCR) assay for the G985 mutation. The analysis was positive and resulted in abortion. We verified the diagnosis by direct analysis on blood spots and other tissue material from the aborted fetus and from family members.

Acyl-CoA Dehydrogenase↗
PubMed1992

Chorionic villus sampling and selective termination of a chromosomally abnormal fetus in a triplet pregnancy.

Transabdominal chorionic villus sampling (CVS) was performed on a patient with a triplet pregnancy. The karyotypes were as follows: 46,XX; 46,XY; and 46,XY/47,XXY. Selective termination was done on the affected fetus successfully by intrathoracic potassium chloride (KCl) injection. Amniocentesis which was performed at the same time confirmed the CVS results, showing the same mosaic findings. Following the procedure, the pregnancy proceeded uneventfully and two normal newborns were delivered at term.

Abortion, Therapeutic↗
PubMed1990

The predictive value of cytogenetic diagnosis after CVS: 1500 cases.

The cytogenetic results of 1500 chorionic villus samples (CVS) are presented. In these 1500 samples, 23 samples (1.5 per cent) could not be provided with a diagnosis because of laboratory failure. This failure rate dropped from 3 per cent in the first 500 samples to 0.2 per cent in the last 500. In the remaining 1477 samples, 58 (3.9 per cent) chromosomal aberrations were found. Of these, 21 (36 per cent) proved not to represent the karyotype of the fetus proper. Predictive values of (different groups of) chromosomal aberrations in CVS are calculated. The impact of (differences between) the predictive value for some major chromosomal aberrations is discussed. A tissue- and chromosome-specific selection mechanism is postulated.

Chorionic Villi Sampling↗
PubMed2003

Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA.

Leigh syndrome (LS) is a mitochondrial encephalopathy that is caused by a mutation either in the mitochondrial DNA (mtDNA) or in the nuclear encoded genes of the mitochondrial proteins. Prenatal diagnosis of defects in the mtDNA is usually problematic because of mtDNA heteroplasmy and tissue specificity. However, the mutations T8993 G/C in the ATP synthase subunit 6 gene of the mtDNA show a more even tissue distribution and do not appear to change significantly over time. There are only few reports of prenatal diagnosis of the T8993G mutation in Leigh disease. Here we describe the first prenatal genetic testing of T8993C in a fetus of a mother whose previous child had died of Leigh syndrome due to the T8993C mutation. Mutant load in the chorionic villus sample (CVS) as well as in amniocytes was undetectable, thus predicting a very high likelihood of an unaffected outcome, indicative of a healthy baby. The diagnosis was confirmed after birth. Gathering data on the prenatal diagnosis of mtDNA mutations is of great importance so that prenatal diagnosis of both T8993G and T8993C mutations can be offered routinely.

Adult↗
PubMed2007

Prenatal diagnosis of haemophilia A by chorionic villus sampling and cordocentesis: all India Institute of Medical Science experience.

BACKGROUND AND OBJECTIVE: We looked at the two most commonly used methods for prenatal diagnosis, cordocentesis and chorionic villus sampling for prenatal diagnosis of haemophilia A in an Indian setting. MATERIAL AND METHODS: The study sample included 16 families which reported to us for prenatal diagnosis of haemophilia A at All India Institute of Medical Science, New Delhi, India. Prenatal tests were done on chorionic villus samples or on cord blood (cordocentesis). Molecular work-up included the use of indirect mutation analysis in the form of linkage markers like CA-13, CA-22, Xba1 and Bcl1 as well as direct mutation analysis in the form of inversion 1 and 22 detection. Non-molecular work-up included primarily factor VIII assays. RESULT: Chorionic villus sampling was performed in eight mothers. Of the other eight mothers, six underwent cord blood factor VIII assays because these had absence of family history and were negative for linkage and inversion 1 and 22. One patient had a female child and another had a fetus that showed congenital abnormalities. CONCLUSION: We found that the choice of either technique, chorionic villus or cordocentesis, is not really an alternative, but rather dependent on the gestational age of presentation.

Chorionic Villi Sampling↗
PubMed2006

Living autologous heart valves engineered from human prenatally harvested progenitors.

BACKGROUND: Heart valve tissue engineering is a promising strategy to overcome the lack of autologous growing replacements, particularly for the repair of congenital malformations. Here, we present a novel concept using human prenatal progenitor cells as new and exclusive cell source to generate autologous implants ready for use at birth. METHODS AND RESULTS: Human fetal mesenchymal progenitors were isolated from routinely sampled prenatal chorionic villus specimens and expanded in vitro. A portion was cryopreserved. After phenotyping and genotyping, cells were seeded onto synthetic biodegradable leaflet scaffolds (n=12) and conditioned in a bioreactor. After 21 days, leaflets were endothelialized with umbilical cord blood-derived endothelial progenitor cells and conditioned for additional 7 days. Resulting tissues were analyzed by histology, immunohistochemistry, biochemistry (amounts of extracellular matrix, DNA), mechanical testing, and scanning electron microscopy (SEM) and were compared with native neonatal heart valve leaflets. Fresh and cryopreserved cells showed comparable myofibroblast-like phenotypes. Genotyping confirmed their fetal origin. Neo-tissues exhibited organization, cell phenotypes, extracellular matrix production, and DNA content comparable to their native counterparts. Leaflet surfaces were covered with functional endothelia. SEM showed cellular distribution throughout the polymer and smooth surfaces. Mechanical profiles approximated those of native heart valves. CONCLUSIONS: Prenatal fetal progenitors obtained from routine chorionic villus sampling were successfully used as an exclusive, new cell source for the engineering of living heart valve leaflets. This concept may enable autologous replacements with growth potential ready for use at birth. Combined with the use of cell banking technology, this approach may be applied also for postnatal applications.

Absorbable Implants↗
PubMed2003

Maternal complications following amniocentesis and chorionic villus sampling for prenatal karyotyping.

OBJECTIVE: To investigate whether amniocentesis and chorionic villus sampling increase the risk of bleeding, placental abruption, complications related to amniotic cavity and membranes, abnormal labour, operative deliveries and to investigate the impact of gestational length at the time of the procedure. DESIGN: A population-based cohort study. SETTING: Sweden, 1991-1996. POPULATION: All women, 35 to 49 years old, with single births (N = 71,586). The women were classified as exposed to amniocentesis (N = 21,748) or chorionic villus sampling (N = 1984) or not exposed (N = 47,854). METHODS: Maternal outcomes were collected from the Swedish Medical Birth Register and the Swedish Hospital Discharge Register. With Logistic regression analyses odds ratios were calculated. MAIN OUTCOME MEASURES: Crude and adjusted odds ratios of bleeding, complications related to amniotic cavity and membranes, abnormal labour and operative deliveries. Women exposed to amniocentesis or chorionic villus sampling were compared with women non-exposed. RESULTS: Neither amniocentesis nor chorionic villus sampling was associated with severe pregnancy complications such as placental abruption or placenta praevia. Women in the amniocentesis group had a lower chance of normal delivery (OR = 0.93, 95% CI 0.90-0.97), an increased risk of complications related to amniotic cavity and membranes (OR = 1.15, 95% CI 1.06-1.24) and hypotonic uterine dysfunction (OR = 1.12, 95% CI 1.06-1.18). The risks were higher for amniocentesis before 15 weeks of gestation. Women in the amniocentesis group were more often delivered by forceps or vacuum extractions (OR = 1.11, 95% CI 1.03-1.19) and elective caesarean sections (OR = 1.09, 95% CI 1.02-1.16). For the chorionic villus sampling group, no significant associations were found. CONCLUSIONS: Among women aged 35-49 years, amniocentesis is not associated with important adverse outcomes such as abruption or placenta praevia. Minor associations were found for other maternal complications when amniocentesis was performed before 15 weeks of gestation. Improved methods to identify women with increased risk of chromosomally abnormal pregnancies might minimise the number of women exposed to invasive procedures.

Abruptio Placentae↗
PubMed1994

Prenatal diagnosis of beta-thalassemic mutations in Chinese by multiple restriction fragment-single strand conformation polymorphism analysis.

A modified approach of polymerase chain reaction (PCR)-based single strand conformation polymorphism (SSCP) has been developed for prenatal diagnosis of beta-thalassemic mutations. In this method, a single PCR product (1,350-bp) is first generated, which is then digested by restriction enzymes (BbsI, BamHI, DraI) to generate multiple shorter restriction fragments for electrophoretic analysis in an SSCP gel. The method is thus termed multiple restriction fragment (MRF)-SSCP. Two cases of chorionic samples and the blood samples of their parents were studied. The previously described amplification-created restriction site (ACRS) method was used to confirm the SSCP results obtained. Two polymorphic sites of the beta-globin gene which would influence the MRF-SSCP patterns are described, including a previously undescribed polymorphic site located at codon 3 (CAT or CAC) of the beta-globin gene.

Base Sequence↗
PubMed1990

A pitfall in the prenatal diagnosis of Lesch-Nyhan syndrome by chorionic villus sampling.

The ratio of the activities of catabolic enzymes such as 5'-nucleotidase and purine nucleoside phosphorylase to that of hypoxanthine-guanine phosphoribosyltransferase (HPRT) may be much higher in frozen or cultured chorionic villus cells than in cultured amniotic fluid cells, cultured fibroblasts, or red blood cells. Consequently, unless these catabolic activities are controlled the observed activity of HPRT may be greatly decreased, and a false diagnosis of Lesch-Nyhan syndrome may result. For a reliable diagnosis, the reaction products of HPRT must be protected from catabolism.

Adenine Phosphoribosyltransferase↗
PubMed1998

Two-colour immunocytochemical staining of gamma (gamma) and epsilon (epsilon) type haemoglobin in fetal red cells.

We have developed a two-colour immunocytochemical staining method for the detection of fetal and embryonic haemoglobin in erythroid cells. The method was applied to study these haemoglobin types in fetal red cells. Specimens from fetal blood (10 weeks), cord blood and fetal liver (14 weeks) as well as chorionic villus samples (10-13 weeks) were stained for gamma and epsilon chains using CY3 and FITC labelled antibodies. Morphometric analysis was applied to determine cell size. Samples from organs involved in early embryonic development contained relatively large erythroblasts expressing the epsilon globin chain (megaloblasts); later in gestation the gamma chain was co-expressed by the same cells which ultimately became smaller and contained HbF (alpha 2 gamma 2) only. This phenomenon was confirmed in CVS samples in which all cell types were abundantly present. Since fetal erythroblasts are considered candidate cells for non-invasive prenatal diagnosis using FISH, we studied the phenotype of erythroblasts circulating in the maternal blood. The majority of erythroblasts in maternal blood appeared to be of the relatively small gamma globin-containing cell type. However, careful screening of the same maternal blood samples also revealed erythroblasts expressing epsilon or epsilon and gamma globins simultaneously, although at low frequency. Control specimens from non-pregnant women did not show nucleated red cells expressing either of the haemoglobin types. These observations may contribute to the better recognition of fetal cells in the maternal blood for prenatal diagnosis.

Chorionic Villi Sampling↗
PubMed2000

What invasive procedure to use in early pregnancy?

As scientific knowledge and medicine advance so do the expectations of the general public. Advances in molecular biology, ultrasonography, access to the early gestational sac and prenatal diagnosis have helped both drive and meet these expectations. We discuss the use, advantages, potential risks and complications of invasive prenatal diagnostic procedures in early pregnancy. All invasive procedures should be performed under continuous ultrasound guidance by experienced operators. Within this context, mid-trimester amniocentesis remains the safest invasive procedure. Chorionic villus sampling (CVS) and early amniocentesis (EA) are associated with a higher risk of subsequent pregnancy loss. There is also a 10-fold increase in the risk of mosaicism with CVS compared to amniocentesis. Both CVS and EA can induce fetal structural defects and should be abandoned as routine invasive tests. Patient counselling should include an evaluation of the risk associated with each individual procedure but also the operator's personal complication rate.

Amniocentesis↗
PubMed2004

Prenatal diagnosis of mucopolysaccharidoses (MPS): the first Egyptian experience.

OBJECTIVE: Prenatal diagnosis of mucopolysaccharidoses (MPS) in pregnant females with previously affected child or more. DESIGN: Prospective clinical study. SUBJECTS: The present study included 14 pregnant females with previously affected child or more with one of the MPS types. These were 5 type I (Hurler), 3 type II (Hunter), 3 type III (Sanfilippo), 1 type IV (Morquio) and 2 type VI (Maroteaux-Lamy). Eleven patients came from Cairo metropolitan area (Cairo, Giza and Kaluobia governorates). Consanguinous marriage was present in 11 (78.6%) couples. Six families have no normal children and eight families have normal children, 5 have girls and 3 have boys. The gestational age at the time of their first visit was 13 weeks or less in 9 cases and more than 13 weeks in 5 cases. All the pregnant females were subjected to history taking, pedigree construction, clinical examination and ultrasound scan. Proper counseling was done and patients were scheduled for prenatal diagnosis. One case (type II) did not come in scheduled time. INTERVENTION: Amniocentesis was done at the 15th week gestational age in 10 cases to withdraw 10 ml of amniotic fluid for the analysis of the glycosaminoglycans (GAG) by the two-dimensional electrophoresis (2-DEP). Chorionic villus sampling (CVS) was done at 11-12 weeks gestational age in 3 cases (type I, type III B and type IV A) to perform the specific enzyme assay fluorimetrically which was developed during the study. RESULTS: 10 cases were proved to be normal fetuses. Three were diagnosed as affected MPS fetuses. The first as MPS II by amniocentesis, the second as MPS type III by amniocentesis and the third as MPS III B by CVS. CONCLUSION: Couples, with an affected MPS child, are eager to have a normal child. So, they are keen to do prenatal diagnosis. Prenatal diagnosis of MPS by the analysis of the glucosaminoglycans (GAG) using the two-dimensional electrophoresis of amniotic fluid is a sensitive and accurate method. However, prenatal diagnosis by the fluorimetric assay of the relevant enzyme in chorionic villi is recommended as CVS is done 3-4 weeks earlier than amniocentesis, so it will offer an earlier diagnosis which is more favourable medically and ethically. During the course of the study, we established the enzymatic diagnosis for types I, III B and IVA. Now the enzymatic diagnosis is available for all types of MPS. (Tab. 1, Ref. 15.)

Amniocentesis↗