Cystic fibrosis: preimplantation diagnosis, prenatal diagnosis and medical ethics, a successful combination.
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Adult↗
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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↗
[The intrauterine retarded newborn infant. Review and recommendations of the Society for Perinatal Medicine of the DDR. II. Etiology, pathogenesis, prenatal diagnosis, prenatal and postnatal therapy and prognosis].
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Alkaline Phosphatase↗
Fetal urinary tract obstructions: prenatal diagnosis--prenatal and postnatal therapy.
A retrospective study was conducted comprising 78 cases of fetal urinary tract obstructions diagnosed by ultrasound. Thirteen of the obstructions were subvesical and 65 supravesical. In only one fetus with a subvesical obstruction leading to megacystis was a puncture of the fetal bladder performed--in the 17th week of gestation--resulting in restitution of the bladder to its normal size. In all of the remaining fetuses the kidneys, lungs, and bladder changes had already reached an advanced stage by the time the ultrasound diagnosis was made. In the 65 fetuses with supravesical urinary tract obstructions in utero puncture to relieve a rapidly developing hydronephrosis only seemed advisable in two cases. All of the prenatal diagnoses were confirmed postpartum with the exception of two Potter IIa kidneys, which had been interpreted as being hydronephrosis. The time and method of postnatal management are described. The results of the study indicate that in utero intervention is only indicated in the very rare case. Nearly all of the supravesical obstructions remained unchanged, some even for months. In these cases there was no evidence of cystic-dysplastic renal changes after delivery.
Diagnosis, Differential↗
[Fetal obstructive uropathies: prenatal diagnosis, prenatal and postnatal management].
The urinary tract obstruction may depend by: ureteropelvic junction obstruction, vesicoureteric reflux, posterior urethral valves, megacystis-microcolon syndrome. Hydronephrosis accounts for 75% of prenatally diagnosed fetal renal abnormalities with, in many cases, renal dysplasia, oligohydramnios and Potter's sequence. With ultrasound is possible to diagnose most urinary tract obstructions that occurs in 1% of all pregnancy, but only 0.2% have clinical relevance. We have conceived an ultrasonographic protocol to evaluate the renal and urinary tract morphology, the cystis, the amniotic fluid and the external genitalia for a more easy ultrasonographic diagnosis and for the exact pre and postnatal management.
Colon↗
[Prenatal diagnosis. I: Prenatal diagnosis program at the Medical Genetics Unit of the Universidad de Zulia, Maracaibo, Venezuela].
The Prenatal Diagnosis Program of the Medical Genetic Unit of University of Zulia has the following objectives: Identification of Genetic Risk Factors (GRF) in those couples who attend to the Prenatal Genetic Clinic, application of different prenatal diagnostic procedures (PDP), and providing adequate genetic counseling. The goal of this paper is to show preliminary results obtained between January 1993 and December 1996. Three hundred and twenty one pregnant women were analyzed by determining the GRF and taking into account the genetic clinical history. The GRF analyzed were: Advanced maternal age (AMA), congenital malformation history (CMH), previous child with chromosomic anomalies (PCCA), defects of neural tube history (DNTH), congenital heart disease history (CHDH), any parent carrier of chromosomic anomaly (PCA), habitual abortion (HA), abnormal fetal echography (AFE), altered maternal serum levels of alpha-feto-protein (AMSAFP) and OTHERS: exposure to teratogenic agents, history of Mendelian diseases, maternal systemic diseases and anxiety in the mother or in her partner. The PDP was designed according to the GRF, which included fetal echography (FE), fetal echocardiography (FEc), amniocentesis (AMN), chordocentesis (CCT) and AMSAFP. Results showed that 58.4% of the expectant mothers asked for counseling during the 2nd trimester, 70% of the total showed only one GRF, and AMA was the most frequent GRF found (40.3%), followed by PCCA, AFE, CHDH, HA, DNTH, PCA, and OTHERS in that order. The specific PDP applied to the identified GRF allowed a health evaluation of the fetus. The GRF identification gave the opportunity of establishing a Prenatal Diagnostic Program producing a response to the couple's needs and showed the utility of an integral and multidisciplinary management directed to any expecting mother in order to identify any high GRF.
Abortion, Habitual↗
[Progress in prenatal diagnosis].
Prenatal diagnosis is primarily the task of the obstetrician and clinical geneticist, but it must concern the pediatrician as well. It may give advance warning of postnatal problems and yield information that is valuable in the care of the newborn. Moreover, the pediatrician may be called upon to judge the prognosis of a child with a prenatally detected anomaly and prenatal therapy might be considered. Recent progress in prenatal diagnosis concerns sonography, including fetal blood sampling and biopsy; early detection of neural tube defects by alpha-fetoprotein and acetylcholinesterase determination (ACHE test); first trimester diagnosis of chromosome anomalies and inborn errors of metabolism; and prenatal DNA analysis. Technical progress in prenatal diagnosis improves the reliability of prognosis and genetic counselling, but also adds to existing ethical problems and may create new ones.
Congenital Abnormalities↗
The influence of gestational age on depressive reactions, stress and anxiety of pregnant women and their partners in relation to prenatal diagnosis.
Prenatal diagnosis is usually performed in the early weeks of gestation in order to avoid medical and emotional maternal risks in the event of fetal malformation. This study examines emotions such as depression, stress and anxiety in pregnant women and their partners with regard to the week of gestation in which the prenatal diagnosis was made. In total, 452 pregnant women (between 7 and 40 weeks' gestation) and 274 partners participated in this study. The pregnant women were divided into four groups of 113 subjects each according to length of pregnancy (group 1 = 7-15 weeks' gestation, group 2 = 16-18 weeks' gestation, group 3 = 19-23 weeks' gestation and group 4 = 24-40 weeks' of gestation). Depression, stress and Spielberger state-trait anxiety levels were measured before the prenatal examination, and stress and state anxiety were assessed after prenatal examination. Statistical analysis was performed using analysis of variance (ANOVA). After the prenatal examination, the mean values of state anxiety (p = 0.032) and stress (p = 0.030) showed statistically significant differences in the pregnant women. Their partners only showed statistically significant differences in the stress values (p = 0.048) after examination. In conclusion, emotional stress related to the prenatal diagnosis seems to be largely independent of gestational age. Ultrasound scans give the parents-to-be a clearer image of their unborn child, as their perception of the fetus is transformed from that of an anonymous object into an individual.
Analysis of Variance↗
[Study on genetic diagnosis and prenatal diagnosis of alpha-thalassemia].
OBJECTIVE: To develop a single-tube multiplex polymerase chain reaction (mPCR) technique to detect three common deletional alpha-thalassemias (alpha-Thal) in Chinese, and to perform genetic diagnosis and prenatal diagnosis for an alpha-Thal family from Hebei province, China. METHODS: Fourty-two blood samples including samples from one alpha-Thal family from Hebei province were assayed. The mPCR containing 7 primers, gel electrophoresis and DNA sequencing were used for the genetic diagnosis and prenatal diagnosis. RESULTS: The gene types of the fourty-two DNA samples analyzed by the mPCR-gel electrophoresis technique were in accordance with the results by Southern blot and three separate PCR techniques. A HbH child and a fetus of the alpha-Thal family were diagnosed as--(SEA)/alpha(cs)alpha and alpha alpha/alpha alpha respectively by using the mPCR and DNA sequencing. The result of postnatal analysis of the cord blood was consistent with the prenatal result (alpha alpha/alpha alpha). CONCLUSION: The developed mPCR technique can be used for genetic diagnosis and prenatal diagnosis of the 3 deletional alpha-Thal in Chinese.
Adult↗
The use of cloned Y chromosome-specific DNA probes for fetal sex determination in first trimester prenatal diagnosis.
Prenatal diagnosis by chorion biopsy in the first trimester of pregnancy has advantages over second trimester amniocentesis because diagnosis can be achieved at 9-12 weeks gestation, reducing prenatal anxiety and avoiding the trauma of late abortion. DNA can be prepared from chorionic villus biopsies in sufficient quantity and purity for use in prenatal diagnosis systems using specific DNA probes hybridised to restriction endonuclease digests. DNA probes derived from the Y chromosome have been used to determine fetal sex. The use of such probes means that the chromosomal sex of the fetus can be identified more quickly than by chromosome preparation and more accurately than by sex chromatin staining, and has the additional advantage that the same DNA preparation can be used for other diagnostic tests. A dot hybridisation method has been successfully used to provide even more rapid results than conventional hybridisation to Southern blots of restriction endonuclease digests. There is a risk that Y chromosome-specific DNA probes for sex determination may be subject to error if the parents have extreme Y chromosome variants such as a small or non-fluorescent Y or a Y autosome chromosome translocation. The precise extent to which such chromosome variants may lead to error has been investigated. Even extreme Y chromosome variants totally lacking fluorescence were identified as male by the cloned probes used. However, Y autosome translocations carried by females could cause error if not identified in the parents. The value of the probes has been confirmed provided that parental chromosomes and DNA are examined in parallel with the chorionic biopsy material.
Cloning, Molecular↗
Whole genome amplification from single cells in preimplantation genetic diagnosis and prenatal diagnosis.
The literature on whole genome amplification (WGA) techniques and their application to preimplantation genetic diagnosis (PGD) and prenatal diagnosis is reviewed. General polymerase chain reaction (PCR) fails to provide adequate information from limited cells in PGD and non-invasive prenatal diagnosis. Therefore several WGA techniques, such as primer extension preamplification (PEP) and degenerate oligonucleotide primed PCR (DOP-PCR), have been developed and successfully applied to clinical work during the past decade, especially in PGD and prenatal diagnosis. These techniques can provide ample amplification of genetic sequences from single cells for a series of subsequent PCR analyses such as restriction fragment length polymorphisms (RFLP) and comparative genomic hybridization (CGH), thus opening up a new area for prenatal diagnosis. However, several problems have been reported in the application of these techniques. The ideal WGA technique should have high yield, faithful representation of the original template, complete coverage of the genome, and simply performed procedure. In order to make good use of these techniques in future research and clinical work, it is undoubtedly necessary for an extensive understanding of the merits and pitfalls of these recently developed techniques.
Blastomeres↗
Aryl sulphatase isoenzymes of chorionic villi: implications for prenatal diagnosis.
Prenatal diagnosis of metachromatic leucodystrophy (MLD) is based on demonstrating a deficiency of aryl sulphatase A (ASA) in the fetus. To evaluate the place of chorionic villus sampling for prenatal diagnosis of this condition, the properties of ASA were compared in chorionic villi and cultured skin fibroblasts. Considerable differences with respect to pH optimum, Km values and linearity with incubation time were found. These differences can be explained by the presence of aryl sulphatase C (ASC), a major component in chorionic villi and placenta. This isoenzyme was shown to have activity towards p-nitrocatechol sulphate (NCS) thereby interfering in the colorimetric assay most often used to detect MLD (Baum et al., 1959)
Cerebroside-Sulfatase↗
Cri-du-chat syndrome: clinical profile and prenatal diagnosis.
Prenatal diagnosis of cri-du-chat syndrome is described in 2 pregnancies. In Case 1, the mother was a balanced translocation carrier and had 2 previously affected off springs. Prenatal diagnosis by chorion villus sampling and cordocentesis was successful in diagnosing an affected conceptus and the pregnancy was electively terminated. Case 2 was referred for nonimmune foetal hydrops and cordocentesis revealed deletion 5p. This second case was noteworthy for the fact that deletion 5p has not been reported to cause foetal hydrops.
Chromosomes, Human, Pair 5↗
Application of fetal DNA in maternal plasma for noninvasive prenatal diagnosis.
Prenatal diagnosis of fetal genetic conditions is a standard part of modern obstetric care. Many of the current methods rely on invasive methods and are associated with an inherent risk of fetal loss. Consequently, there has been a long-term goal for development of noninvasive prenatal diagnostic methods. In 1997, the presence of fetal DNA in maternal plasma was first discovered through the detection of Y-chromosome-specific sequences in the plasma of women conceived with male fetuses. This discovery has opened up new possibilities in the development of noninvasive prenatal diagnostic methods through a source of fetal genetic material that could be conveniently accessible simply through the collection of a maternal peripheral blood sample. To date, there have been numerous reported applications, including fetal RhD genotyping, prenatal diagnosis of sex-linked disorders, paternally inherited genetic diseases and some pregnancy-associated conditions, including preeclampsia. More recently, there have been significant new developments with expanding number of potential applications.
DNA↗
[A case of congenital non-spherocytic hemolytic anemia caused by triose phosphate isomerase deficiency. Prenatal diagnosis].
Prenatal diagnosis: The authors present a personal case of triose-phosphate-isomerase deficiency. Clinically the deficiency associates a constitutional non spherocytic anemia, paroxystic and precocius, and neuromuscular symptoms (axial hypotonia and limb palsies). A diaphragmatic paralysis may complicate the syndrome. Infections are frequent. Survival rarely goes beyond 5 years of age. Biochemical exams show the ubiquity of the deficiency. The physiopathology remains obscure. The TPI deficiency is heritable (autosomal recessive transmission). The gene has been mapped on the short arm of the chromosome 12. Prenatal diagnosis is possible.
Anemia, Hemolytic, Congenital↗
Trophoblasts isolated from the maternal circulation: in vitro expansion and potential application in non-invasive prenatal diagnosis.
Prenatal diagnosis based on rare fetal cells in maternal blood is currently not a feasible option. An effort was made to improve cell yields by targeting trophoblast cells. After sorting, the HLA-G-positive cell fraction was analyzed directly or after culture. In situ hybridization technology was applied to prove fetal cell source in samples from women carrying a male fetus and to predict gender in samples without previous knowledge of fetal sex. In vitro culture led to a significant increase in fetal cells and accurate gender prediction in 93% of these samples. This approach might be useful for non-invasive prenatal diagnosis.
Centrifugation, Density Gradient↗
Techniques in current use in prenatal diagnosis.
Prenatal diagnosis is now offered to the majority of pregnant women in Europe and the United States. Advances in obstetric and laboratory techniques mean that increasing numbers of conditions can be diagnosed prenatally; indeed, gene carriers can be identified before pregnancy in some cases. Current obstetric and laboratory techniques for prenatal screening and diagnosis of genetic disorders are discussed.
Europe↗
[Genetic diagnosis and prenatal diagnosis of spinal muscular atrophy by restriction endonucleases digestion of PCR product].
OBJECTIVE: To establish an efficient and rapid method for genetic diagnosis and prenatal diagnosis of spinal muscular atrophy (SMA). METHODS: 11 SMA patients were detected for the deletion and mutation in the survival motor neuron (SMN) gene by restriction endonucleases digestion of PCR products based on the difference between the two homologous copies of SMN. Linkage analysis was performed using four (CA) n repeats. RESULTS: Both eon 7 and exon 8 were deleted in 10 patients. Only exon 7 deletion was found in one patient. Prenatal diagnosis of four SMA pedigrees was performed by restriction endonucleases digestion. SMN gene fragments of three fetuses were different from those of probands, and the SMN gene fragments of one fetus was the same as those of proband. CONCLUSION: Restriction endonucleases digestion of PCR products is an efficient and rapid method for diagnosis of SMA.
Cyclic AMP Response Element-Binding Protein↗