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PubMed1988

Prenatal diagnosis by chorionic villus sampling.

The future of chorionic villus sampling can only be envisioned in the light of current knowledge. Amniocentesis will undoubtedly continue to hold an important place in prenatal diagnosis and has recently assumed greater importance in diagnosing neural tube defects and Down syndrome through widespread maternal serum alpha-fetoprotein screening. Patients now have a choice in prenatal diagnostic procedures for most genetic disorders. Many are already choosing chorionic villus sampling despite the questions that remain regarding risks and diagnostic accuracy. Risk figures for miscarriages due to the procedure and for intrauterine infection are especially needed. The issues of maternal contamination in laboratory analyses and chromosomal mosaicism that may not be present in the fetus are also of prime importance. Collaborative efforts continue to answer these and other questions so that in the future patients will be better able to make informed decisions regarding prenatal diagnosis.

Abortion, Spontaneous↗
PubMed2006

Prenatal diagnosis of beta-thalassemia in Southern Punjab, Pakistan.

Pakistan has a large population of more than 150 million people with an overall carrier frequency of approximately 5.6% for beta-thalassemia. Punjab is the largest province of the country having more than 50% of the population. The state of beta-thalassemia is alarming as consanguinity is very high (>81%) and the literacy rate is low in South Punjab. A thalassemia prevention program is the need of the hour in this part of Pakistan. In this study, we initiated awareness, screening, and characterization of the mutations causing beta-thalassemia as well as a genetic counseling program mainly in the districts of Faisalabad and D.G. Khan to establish prenatal diagnosis, a facility previously unavailable in this region for disease prevention. A total of 248 unrelated transfusion-dependent children and the available members of their families were screened to characterize the mutations and identify the carriers. Genetic counseling was provided to these families and prenatal diagnosis offered. In the samples analyzed, 11 beta-thalassemia mutations and three hemoglobin variants were detected mainly by using the Monoplex and Multiplex ARMS-PCR. First-trimester prenatal diagnosis was carried out through chorionic villus sampling (CVS) in seven pregnancies at risk. As a result of our campaign, 145 carrier couples planning to have more children gave their consent to have retrospective prenatal diagnosis in every pregnancy in future. A cooperative trend and a positive attitude toward the prevention of beta-thalassemia were noticed in the families with affected children and in the general population.

Chorionic Villi Sampling↗
PubMed1989

Bleeding as a consequence of chorion villus sampling.

A series of 4 separate studies were conducted to assess the incidence and short term consequence of bleeding associated with chorion villus sampling. Results support previous reports that risk of foetal-maternal transfusion as suggested by a rise in maternal serum alpha-fetoprotein (MSAFP) can occur. This occurrence is not consistent and need not be obvious even after therapeutic abortion. It is also transient and did not complicate mid-trimester neural tube screening or subsequent course of pregnancy. Eighty-seven percent of blood contaminating villus samples are of maternal origin. Following diagnosis 37% of patients reported some vaginal bleeding. This is mainly in the form of spotting which did not preclude normal pregnancy. Foetal loss occurred in 4 of the patients when bleeding considered heavier than spotting continued. In rhesus negative patients prophylactic anti-D gamma-globulin is advised, since neither Kleihauer counts nor MSAFP estimation reliably detect all foetal-maternal transfusions.

Chorionic Villi Sampling↗
PubMed1994

Neonatal survival after preterm premature rupture of membranes secondary to first trimester chorionic villus sampling.

A case of preterm premature rupture of membranes (PROM) secondary to first trimester chorial biopsy is described. The newborn survived and physical and psychological development was normal at 1 year of age. On review of the literature, different attitudes may be found with regard to the treatment of PROM: some authors prefer expectant management while others defend extraction of the fetus when reasonable maturity is reached. In both cases the outcome is usually poor for the fetus.

Adult↗
PubMed1992

Prenatal diagnosis with repetitive in situ hybridization probes.

We have used chromosome-specific repetitive sequences to detect the most common human aneuploidies prenatally. Together chromosome 21, 13, 18, X, and Y aneuploidy comprises 95% of the chromosome abnormalities that result in a high risk of abnormal phenotypes at birth. The X, Y, and 18 repetitive probes work reliably in multiple tissue types including directly examined and cultured amniocytes, chorionic villus cells, lymphocytes, and cultured fibroblasts. The probe that detects both chromosomes 13 and 21 routinely gives results in each cell type tested except directly studied amniocytes which can be interpreted in seven-ninths of the cases with protocol 1 and all tested samples with protocol 2. Our protocols diagnosed trisomy 21 in a 23-week fetus with low maternal serum AFP and a trisomy 18 in a direct chorionic villus sample 2 working days after the samples were obtained. Trisomy 21 also has been ruled out in a CVS karyotype first thought to be 47,XY, +21. These studies reflect the potential value of in situ hybridization to provide a more rapid, less expensive means to screen most at-risk fetal populations with less effort in first world cytogenetic laboratories, and to provide economical cytogenetic services in less developed countries.

Aneuploidy↗
PubMed1993

Evidence of a second gamete fusion after the first cleavage of the zygote in a 47,XX,+18/70,XXX,+18 mosaic. A remarkable diploid-triploid discrepancy after CVS.

A 70,XXX,+18 karyotype was found by chorionic villus sampling, while the fetal fibroblast culture of the affected fetus revealed a 47,XX,+18 karyotype. From several possible mechanisms, we assume that a second gamete fusion occurred after the first cell division of the zygote. According to this interpretation, the mosaicism arose in very early pregnancy (at the two-cell stage). This discrepancy can therefore be explained by selection pressure, due to the differentiation processes in the embryonic tissues.

Adult↗
PubMed1994

Oromandibular-limb hypogenesis syndrome following chorionic villus sampling.

A female infant with hypoglossia-hypodactyly syndrome is presented. Her mother underwent chorionic villus sampling (CVS) at 9 weeks gestation. This is the seventh reported case of oromandibular-limb hypogenesis syndrome associated with maternal CVS, the first from the United States. These seven CVS-related cases represent a significant increase over this syndrome's 'natural' incidence of 1 per 175,000 live births. An excess of limb reduction deformities has also been seen following CVS. These seven cases are reviewed, and the possible etiology of this rare condition is discussed.

Chorionic Villi Sampling↗
PubMed1992

Follow-up of retinoblastoma patients having prenatal and perinatal predictions for mutant gene carrier status using intragenic polymorphic probes from the RB1 gene.

We have carried out presymptomatic prediction of mutant gene carrier status in ten individuals with a family history of retinoblastoma. In all cases standard linkage studies were employed using intragenic DNA probes which recognise restriction fragment length polymorphisms. In four cases foetal DNA samples were obtained by chorionic villus sampling, the remaining six were derived from either cord blood samples or venipuncture of neonates. We demonstrated that the mutant gene was inherited by only one of these patients who has subsequently developed bilateral tumours. Six of the other cases have now reached the age beyond which it might have been expected that tumours would develop and are all disease free. It must be concluded that repeated ophthalmological examination of these and future patients shown not to have inherited the mutant gene, is unnecessary.

Base Sequence↗
PubMed1996

Early prenatal diagnosis of beta-thalassaemia in Singapore.

beta-thalassaemia is one of the commonest autosomal recessive genetic diseases in the Singapore population. In the homozygous form, it results in a severe anaemia, requiring monthly transfusion for survival. Because of the less than satisfactory treatment available for the condition, prenatal diagnosis has always been an option for couples at-risk. The available method was globin chain analysis of foetal blood, obtained at 18 to 20 weeks of gestation. Affected pregnancies would then be diagnosed and require termination in the mid to late trimester. A relatively newer technique, chorionic villus sampling (CVS), allows foetal material to be obtained in the first trimester. However, analysis of the foetal tissue requires direct gene studies to be performed. The aim of this study was to evaluate the feasibility of this analysis in couples at-risk for beta-thalassaemia in Singapore. Sixteen couples who were at-risk for a child with beta-thalassaemia major were offered prenatal diagnosis. All of them opted for CVS as compared to foetal blood sampling. The mutations in the beta-globin gene in these couples at-risk were identified. Direct gene analysis was then performed on the foetal sample, using a variety of molecular techniques. These included reverse dot-blot hybridisation, allele-specific oligonucleotide hybridisation, restriction enzyme digests and direct analysis of amplified products. DNA profiling was done for each case to exclude definitively the possibility of maternal tissue contaminating the foetal sample. The results in all these cases were unequivocal. The procedure of CVS itself was uneventful in these 16 couples. Procedural-associated foetal loss was nil. Prenatal diagnosis in the first trimester allows early termination of an affected pregnancy with significantly less maternal morbidity and prenatal anxiety. It also results in greater patient acceptability of the procedure and plays a key role in the prevention of this devastating genetic disease.

Chorionic Villi Sampling↗
PubMed1998

Strong preference for non-invasive prenatal diagnosis in women pregnant through intracytoplasmic sperm injection (ICSI)

Intracytoplasmic sperm injection (ICSI) is a new and most powerful technique to treat severe forms of human infertility. While the follow-up studies have not shown an increased malformation risk so far, the genetic implications of ICSI are still not fully understood. For this reason, many institutions routinely recommend or even enforce invasive prenatal tests after successful intracytoplasmic sperm injection. We have counselled 107 women pregnant through ICSI about prenatal diagnosis. Sixty-five had already received genetic counselling prior to the treatment (group 1), while 42 had not attended our clinic before (group 2). They were free to choose between invasive and non-invasive diagnosis or no prenatal tests at all. Fifty-four per cent of these patients had an indication for prenatal karyotyping or other invasive procedures independent of ICSI. Only 17 per cent of the total cohort made use of amniocentesis or fetal blood sampling, 82 per cent opted for non-invasive tests (ultrasound, serum screening), and one couple did not wish any prenatal studies. The preference for non-invasive procedures was stronger in group 1 (94 per cent) than in group 2 (65 per cent). We suggest that if patients pregnant through ICSI have the option to choose freely between invasive and non-invasive prenatal tests, they strongly favour the latter.

Adult↗
PubMed1996

Comprehensive 4-year follow-up on a case of maternal heterodisomy for chromosome 16.

Uniparental disomy for chromosome 16 has been previously identified in fetal deaths and newborn infants with limited follow-up. Thus there is a lack of information about the long-term effects of maternal uniparental disomy 16 on growth and development. We present a case of maternal heterodisomy for chromosome 16 and a comprehensive 4-year physical and cognitive evaluation. Cytogenetic analysis of chorionic villus obtained at 10 weeks gestation for advanced maternal age showed trisomy 16. At 15 weeks, amniocentesis demonstrated low level mosaicism 47,XY,+16[1]/46,XY[25]. Decreased fetal growth was noted in the last 2 months of pregnancy and the infant was small for gestational age at birth. Molecular studies revealed only maternal alleles for chromosome 16 in a peripheral blood sample from the child, consistent with maternal uniparental heterodisomy 16. Although short stature remains a concern, there appears to be no major cognitive effects of maternal disomy 16. Clinical evaluation and follow-up on additional cases should further clarify the role of placental mosaicism and maternal disomy 16 in intrauterine growth retardation and its effects on long-term growth in childhood.

Abnormalities, Multiple↗
PubMed1992

Molecular screening and fetal diagnosis of beta-thalassemia in the Italian population.

This paper reports our experience of molecular screening and fetal diagnosis of beta-thalassemia in 457 at risk couples of Italian descent. Molecular screening was carried out by dot blot analysis on amplified DNA with oligonucleotide probes complementary to the eight most common mutations in Italians [beta zero 39 (C----T); beta zero 6 (-A); beta+ -87 (C----G); beta+ IVSI nt 110 (G----A); beta zero IVSI nt 1 (G----A); beta+ IVSI nt 6 (T----C); beta zero IVSII nt 1 (G----A); beta+ IVSII nt 745 (C----G)]. By using this approach, we have been able to define the mutation in 92.8% of cases. The rest (all but four) were defined by direct sequencing and this led to the detection of nine rare mutations [beta zero 76 (-C); beta+ IVSI nt 5 (G----A); beta+ IVSI nt 5 (G----C); beta+ IVSI -1 (cod 30) (G----C); beta+ -87 (C----T), beta zero -290 bp del.; beta+ -101 (C----T)], and to the characterization of a novel mutation consisting of the deletion of the G at the invariant AG of the IVSII splice acceptor site of the beta-globin gene (beta IVSII nt 850 -1 bp). In the remaining four cases, the beta-globin gene showed entirely normal sequences and the beta-globin gene cluster was intact, as indicated by Southern blot analysis. Fetal diagnosis was carried out by dot blot analysis with the oligonucleotide probes defined in the parents. The procedure is simple and reliable, and the results can be obtained within 1 week of sampling. No misdiagnosis has so far occurred. The results indicate that fetal diagnosis of beta-thalassemia by DNA analysis may be obtained in practically all cases (even in a population showing marked heterogeneity of beta-thalassemia) by the combination of dot blot analysis for detecting common mutations, and direct sequencing for defining those that are uncommon.

Base Sequence↗
PubMed1999

Prenatal diagnosis of JAK3 deficient SCID.

The JAK3 gene, encoding a tyrosine kinase functionally coupled to cytokine receptors which share the common gamma chain, has been identified as the defective gene for autosomal recessive severe combined immunodeficiency (SCID). Thus, specific mutational diagnosis has become possible. We screened all exons with a combined single strand conformational polymorphism and hetero-duplex formation assay followed by sequence analysis to identify specific mutations in two families. This assay was used on chorionic villus sampling derived DNA in two fetuses from two unrelated families, where we found mutations in both parents. We were able to exclude the mutations in both fetuses by the 12th week of gestation. The described method for first-trimester prenatal diagnosis of autosomal recessive T-B+SCID provides a valid tool to aid in genetic counselling and possibly prenatal therapy in this disease.

Alleles↗
PubMed1988

[Prenatal diagnosis of congenital anomalies--present status and future problems].

Technical advances continue to expand the number of genetic disorders that can be diagnosed in utero. The current methods for prenatal diagnosis are as follows: Amniocentesis, fetoscopy, fetal blood sampling, biopsy of fetal skin, and chorionic villus sampling (CVS). The method for growing fetal cells obtained by amniocentesis in short term culture and karyotyping has opened a new area to chromosomal anomalies. By using cultured amniotic fluid cells in larger numbers, it is also possible to diagnose many metabolic disorders. Fetoscopy has been developed which permits the perinatologist to enter the uterus and obtain tissue sample or to actually view the fetus. However, it is very difficult to visualize the fetus directly through fetoscope. Only specific parts of the fetus can be readily identified, but a total examination of surface anatomy is rarely possible. Now ultrasonography with improved resolution can clearly define many major anatomical abnormalities without apparent risk. And also, fetal blood sampling and skin biopsy have been successfully performed under ultrasound guidance rather than under direct fetoscopic visualization. Recently, the advent of fetal blood sampling has made it possible to diagnose genetic disorders which have hitherto been impossible to recognize in the fetus. The main applications are for the prenatal diagnosis of the fetal infection, coagulopathies, hemoglobinopathies, and muscular dystrophies. Several severe genodermatoses result in early death or are associated with significant morbidity. Some of these disorders can be diagnosed in utero with skin biopsies. Harlequin Ichthyosis is a typical case. A positive prenatal diagnosis of Harlequin Ichthyosis was reported.(ABSTRACT TRUNCATED AT 250 WORDS)

Amniocentesis↗
PubMed1994

Early prenatal direct gene diagnosis of cystic fibrosis in a twin pregnancy and subsequent selective termination.

We present a case of prenatal diagnosis of cystic fibrosis (CF) in one twin at 11-12 weeks of gestation. The parents had previously had two children, one of whom is alive and healthy and one who died of CF at the age of 2 1/2 months. The parents were both known to be carriers of the delta F508 mutation. Chorionic villus sampling (CVS) was performed and direct gene analysis showed that one fetus was homozygous for the delta F508 mutation, while the other fetus did not have the mutation at all. Both fetuses had normal karyotypes. Selective termination was subsequently performed. The pregnancy continued without complications except for mild pre-eclampsia at term. The woman had a Caesarean section. The genetic diagnosis was confirmed after birth.

Abortion, Induced↗
PubMed1990

Uterine bloodflow velocity waveforms before and after transcervical chorionic villus sampling.

Flow velocity waveforms from the left and right uterine artery were studied relative to transcervical chorionic villus sampling (CVS) between 9 and 11 weeks of gestation in 12 uncomplicated pregnancies and 5 pregnancies resulting in second trimester fetal loss. There was no significant difference in mean pulsatility index (PI) as a measure of downstream impedance, between the left and right uterine artery. There were also no significant changes in PI relative to the CVS procedure both in uncomplicated pregnancies and in pregnancies ending in second trimester fetal loss.

Adult↗
PubMed2005

Late first-trimester placental disruption and subsequent gestational hypertension/preeclampsia.

OBJECTIVE: To evaluate the potential relationship between placental disruption in weeks 13 and 14 and the subsequent development of gestational hypertension or preeclampsia. METHODS: Using subjects recruited during a randomized trial funded by the National Institute of Child Health and Human Development, which compared early amniocentesis and late transabdominal chorionic villus sampling (CVS) in weeks 13 and 14, rates of gestational hypertension and preeclampsia were compared between cases with varying degrees of placental disruption. RESULTS: A total of 3,698 of 3,775 randomized subjects had cytogenetically normal pregnancies and were analyzed. A significantly higher rate of hypertension/preeclampsia was observed in the late CVS group (5.4%, n = 1,878) compared with the early amniocentesis cohort (3.5%, n = 1,820; P = .005). This difference persisted after controlling for maternal age, body mass index, parity, previous preterm delivery, smoking, and fetal gender. Early amniocentesis cases were further stratified on the basis of whether the placenta had been penetrated (n = 460) or not (n = 1,360). Risk of hypertensive complications was lowest if the placenta was not traversed (3.4%), greater with placental penetration (3.9%), and highest when the placenta was directly sampled during CVS (5.4%, P = .02). CONCLUSION: We hypothesize that focal disruption of the placenta at 13-14 weeks may increase the risk of hypertension/preeclampsia. These findings provide support for the theory that disturbances in early placentation lead subsequently to maternal hypertension.

Amniocentesis↗
PubMed1998

Prenatal diagnosis of lysosomal storage diseases.

The prenatal diagnosis of lysosomal storage disorders can be achieved, once the diagnosis is confirmed in the index case, by a variety of techniques including analysis of amniotic fluid, asay of enzymic activity in cultured amniotic fluid cells, cultured chorionic villus cells and by direct assay of activity in chorionic villus samples. These studies can be accompanied by ultrastructural observations which give an independent means of diagnosis. In some instances molecular genetic studies for mutation detection or linkage analysis are appropriate for prenatal diagnosis. Pseudodeficiencies of some of the lysosomal enzymes, which cause no clinical problems, can complicate the initial diagnosis particularly in metachromatic leucodystrophy where the pseudodeficiency is more common than the disease itself. Mutation analysis as well as enzyme assay is necessary not only in the index case but also in the parents before the same techniques are applied to a sample for prenatal diagnosis. A large number of lysosomal storage disorders may present as fetal hydrops and the diagnosis can be established at this late stage by fetal blood sampling and examination by microscopy as well as by biochemical assay of the appropriate enzyme or metabolite in amniotic fluid. All prenatal diagnoses in which an affected fetus is indicated should have confirmation of the diagnosis as soon as possible to reassure anxious parents, and to act as audit of the laboratory's competence to undertake prenatal diagnosis. A combined approach to prenatal diagnosis involving biochemical, molecular genetic and morphological studies is recommended.

Amniotic Fluid↗