Data from 3,953 consecutive second trimester genetic amniocenteses were analysed to determine pregnancy loss rates up to 6 weeks after the procedure. Information was prospectively collected on a cohort of 3,685 women in 3,896 singleton and 50 twin pregnancies, from 2 operating sites in Perth, Western Australia, using 9 operators ...

The aim of the present study was to report the findings in 14 women with extremely high risk ('precious') pregnancies, 5 of whom had twins, who underwent elective third-trimester cytogenetic amniocentesis. There were no procedure-related complications, and all newborns weighed more than 2000 g and showed normal development. This practice ...

The purpose of this study was to identify risk factors for fetal loss and other pregnancy complications associated with genetic amniocentesis. Data were acquired in the Canadian Early Amniocentesis Trial (CEMAT), a multicentered (12) prospective, randomized trial comparing continuous ultrasound-guided early amniocentesis (EA) and mid-trimester amniocentesis (MA) (CEMAT Group, 1998). ...

BACKGROUND: Gain-of-function mutations of the calcium-sensing receptor gene have recently been identified as a cause of familial hypercalciuric hypocalcemia. There have been no earlier reported cases of pregnancy among patients with this disorder. CASE: A 26-year-old woman, gravida 1, para 0, was diagnosed at age 18 as being a heterozygous ...

OBJECTIVE: To evaluate the accuracy and risk of chorionic villus sampling (CVS) for prenatal diagnosis in multiple pregnancies. METHOD: Twenty-eight chorionic villus samplings were carried out in a group of women with twin pregnancies. A transabdominal route was chosen in 24 samplings and the rest (four samplings) were carried out ...

When pediatric surgeons counsel the prospective parents of a fetus with a major congenital anomaly, medical and ethical issues may arise in one or more contexts. There may be: (1) issues concerning the possibility of in-utero intervention or termination of pregnancy; (2) issues surrounding the timing, location and mode of ...

We report our experience in a cytogenetic study of 93 spontaneous abortions. Specimens were obtained by transabdominal chorionic villus sampling (TACVS) in women requesting prenatal diagnosis by chorionic villus sampling (CVS) but in whom an arrested pregnancy had been diagnosed during the ultrasound examination. Our success rate, i.e. the percentage ...

Infantile neuronal ceroid lipofuscinosis (INCL) is a progressive neurodegenerative disorder in childhood which is caused by the deficiency of the lysosomal palmitoyl-protein thioesterase (PPT) encoded by the CLN1 gene. In a pregnancy at risk for INCL, chorionic villi (CV) were studied using a novel fluorometric PPT enzyme assay in combination ...

The potential of a new fluorescent in situ hybridization technique is discussed, which uses a complete set of telomeric probes to reveal cryptic chromosome rearrangements that remain undetected by standard cytogenetic analysis. We report the obstetric history of a patient who had a termination of pregnancy at 20 weeks for ...

A 34-year-old pregnant woman was referred at 30 weeks of gestation with suspected fetal congenital heart disease. On prenatal ultrasound the following anomalies were detected: intra-uterine growth retardation, micrognathia, coarctation of the aorta with ventricular and atrial septal defects, ambiguous external genitalia, and clinodactyly of one hand with adducted thumb. ...

Charcot-Marie-Tooth Disease (CMT) is the most common cause of peripheral neuropathy, with an incidence of 1:2500 persons affected. Previously, we reported the use of fluorescence in situ hybridization (FISH) to detect the common submicroscopic duplication of 17p12 found in more than 98 per cent of individuals with CMT1A. We found ...

Current practices in prenatal diagnosis of rhizomelic chondrodysplasia punctata (RCDP) are reviewed. A case is presented with a family having one daughter affected with RCDP due to alkyldihydroacetonephosphate acyltransferase synthase (DHAPAT synthase) deficiency, and three subsequent pregnancies. Biochemical test values are presented for the pregnancies and daughter. Post-mortem tests of ...

We introduced prenatal diagnosis of SCD in Nigeria in order to meet a rising demand. Our approach and experience are documented as a guide to others in countries with similar problems. A cost-recovery fee charged only to sustain the service predictably limited access to it. Ultrasound-guided transcervical (TC) or transabdominal ...

OBJECTIVE: To describe prenatal genetic diagnosis in hyperprostaglandin E syndrome (HPS) and the effect of indomethacin therapy on the course of the disease before birth and in the neonatal period. METHODS: Mutational analysis of the ROMK channel gene (KCNJ1) from amniocytes by single-strand conformational analysis and direct sequencing. Review of ...

Prenatal diagnosis of mucolipidosis type II (I-cell disease) can be performed quickly and reliably by electron microscopy of chorionic villus tissue. This study reports the results of studies in three prenatal assessments (two families) where the pregnancy was at one in four risk of the disorder. In all three cases, ...

The diagnosis of lethal fetal malformation prenatally has profound implications for the pregnancy, the expectant couple and the medical care provided. The aim of this study was to investigate these implications and the medical factors pertaining to prenatal diagnosis of lethal fetal abnormality in current obstetric practice in Ireland. Data ...

500 women with multiple pregnancies underwent amniocentesis or chorionic villus (CV) sampling at our department between January 1988 and July 1997. The aim of this retrospective study was to evaluate the laboratory aspects and the consequences of discordant results in these pregnancies in relation to the method of sampling. Uncertain ...

This study examines the prevalence of isolated fetal choroid plexus cysts (CPCs) detected in early pregnancy by transvaginal sonography in an increased genetic risk population and their association with abnormal fetal karyotype. A prospective study was performed on 1692 pregnant women (>37 years) who underwent transvaginal scan at 11-16 weeks' ...

Harlequin ichthyosis (HI) is an extremely severe and usually fatal congenital keratinization disorder whose responsible genes have not yet been identified. For prenatal diagnosis, the fetal skin biopsy is the only available method and has been usually performed at 21 to 22 weeks' estimated gestational age (wEGA). Hair canal keratinization ...

OBJECTIVE: Advances in prenatal diagnostics during the last 10 years have enabled the examiner to detect even rare fetal disorders such as fetal tumours. Congenital neuroblastoma is the most frequent solid neoplasm in infancy, with a retroperitoneal cystic or solid mass being a sonographic sign of the conditions. METHODS: We ...

Haemolytic disease of the newborn (HDN) is caused by the action of maternal antibodies on paternally derived antigens present on fetal erythrocytes. In its most severe form it may lead to death in utero. Although the introduction of anti-D prophylaxis has greatly reduced the incidence of the disease, a significant ...

BACKGROUND: Recent studies have debated the safety of early amniocentesis, one of which reported a significant increase in spontaneous fetal losses following amniocentesis performed at 10-13 weeks of gestation. The aim of this study was to determine the fetal loss rate following amniocentesis performed at different stages in the second ...

Maternal allo-immunization to antigens of the Duffy blood group system can result in haemolytic disease of the newborn (HDN), therefore, the application of allele-specific polymerase chain reaction (ASPCR) for prenatal genotyping of the Duffy antigen system to identify pregnancies at risk for HDN was evaluated. Oligonucleotide primers were designed for ...

We compared two methods of collection of transcervical cell samples, mucus aspiration and cytobrush, with respect to the efficiency in determining fetal sex and we correlated the results with the week of gestation (7-11 weeks) to evaluate if the age of gestation influenced the success of the analysis. DNA extracted ...

No reports of cutaneous lesions after amniocentesis have been published after the advent of real-time ultrasonography. Two infants with multiple skin dimpling caused by needle puncture during fetal life are described. They had pitted scars on the thighs and abdomen that were not associated with internal injury. Both mothers had ...

Background: Chorionic villus sampling (CVS) is used routinely as a first trimester diagnostic procedure for fetal karyotyping in at-risk pregnancies. The success of the procedure is dependent on the experience of the operator performing it. The objective of this study was to determine the relationship between an operatorcontrolled clinical and ...

Pyruvate carboxylase (PC) deficiency is a rare metabolic disorder in infants and children, most frequently with fatal outcome. Its prenatal diagnosis by radiometric assay in cultured amniocytes has previously been reported. We present and discuss the prenatal diagnosis of PC deficiency by direct measurement of PC activity in chorionic villi, ...

Recent publications concerning the prevalence of Down syndrome at times of chorionic villus sampling (CVS), amniocentesis and livebirth were reviewed with particular interest in estimates of spontaneous loss of Down syndrome fetuses during pregnancy. Data from several studies were combined to provide information on 258,206 pregnancies. A logistic regression was ...

The aim of the present study was to investigate the morphology of cytogenetically normal chorionic villi from chorionic villous sampling (CVS) specimens. This information can serve as a reference for morphological investigation of cytogenetically abnormal CVS specimens. We were also interested in any relationship between chorionic villous architecture and the ...

The aim of this study, was to determine the fetal loss rate after fetal blood sampling (FBS) in relation to the indication. In total, 1981 FBS procedures (1878 pregnancies) were included, of which 117 were performed for the detection of congenital infection (group 1), 1437 for the detection of haemoglobinopathy ...

We report on the DNA-based prenatal diagnosis of congenital pulmonary alveolar proteinosis in a family in which alveolar proteinosis was associated with surfactant protein B (SP-B) deficiency. The parents had lost an eight-week-old female child due to this fatal disorder. The affected child was homozygous and both parents were heterozygous ...

Spinal and bulbar muscular atrophy (SBMA) is a rare X-linked motor neuron degenerative disease caused by an expanded trinucleotide repeat. Unlike most other trinucleotide repeat diseases, SBMA shows limited meiotic instability, and evidence thus far indicates absence of somatic instability in adults. Data regarding the presence of fetal tissue somatic ...

Preimplantation genetic diagnosis (PGD) followed by implantation of unaffected embryos offers high-risk couples the option to decrease the risk of genetic disease in their offspring without the dilemma of a prenatal diagnosis that may be followed by a termination of pregnancy. Polar body, blastomere and blastocyst biopsies are currently being ...

We have studied a large population-based cohort of women who had amniocentesis at 14 weeks' gestation (early amniocentesis) in Victoria, a state of Australia, to determine fetal loss rates and maternal morbidity. This was done by linking two registers--one containing information on all prenatal diagnostic tests in the state, and ...

The molecular basis of the myotonic dystrophy (MD) kinase gene is expansion of the CTG repeat at the 3'-untranslated region of the MD gene. Variability of the CTG repeat size in different tissues of affected individuals has been demonstrated. The objective of this report was to examine and review the ...

Prenatal diagnosis of toxoplasmosis gondii in twin pregnancies has been described twice. In both cases they were accomplished by prenatal blood sampling of the foetuses. We report the first prenatal diagnosis with a discordant result in a dizygotic pregnancy. One of the foetuses died in utero and the other was ...

OBJECTIVE: To assess the risk of fetal loss attributable to second-trimester amniocentesis. METHODS: A cohort study was undertaken among singleton pregnant women undergoing genetic amniocentesis and controls matched prospectively on a one-to-one basis, matched strictly for maternal age, parity, and socioeconomic status. Both groups were recruited at 15-24 weeks' gestation ...

The ability to use fetal cells enriched from the blood of pregnant women for prenatal diagnosis has been a long-sought goal for those pursuing a non-invasive alternative to current methods, such as amniocentesis or chorionic villus sampling. Several new developments, which rely either on fluorescence in situ hybridization or the ...

MJD is the most frequent dominant ataxia and an incapacitating disorder. Onset is most frequently during the reproductive years, and genetic counseling is its only means of prevention. The causative mutation--an expansion of a (CAG)n on chromosome 14q32.1--can now be directly detected. We now report the first two cases of ...

We have developed a method that allows the prenatal DNA diagnosis of ornithine transcarbamylase (OTC) deficiency by using a single fetal nucleated erythrocyte (NRBC) isolated from maternal blood. OTC gene analysis of a male patient (TF) with early onset OTC deficiency was performed by single-strand conformation polymorphism (PCR-SSCP) and DNA ...

Fetal male DNA can be identified in maternal blood by polymerase chain reaction (PCR) amplification of Y-specific sequences. This technology has not reached a satisfactory accuracy and reproducibility in fetal gender determination because of the very low concentration of fetal cells. Our purpose was to evaluate the possibility of improving ...

A (semi-) randomized controlled study with long-term follow-up was conducted to compare the effects of transabdominal chorionic villus sampling and early amniocentesis on fetal mortality and child morbidity. Women requesting early prenatal diagnosis for advanced maternal age were allocated to early amniocentesis or transabdominal chorionic villus sampling either by randomization ...

Ovulation induction and assisted-reproduction techniques have dramatically increased the incidence of high-risk multiple pregnancies over the past 10 years. Perinatal outcome may be improved by the use of multifetal reduction. The fetus to be reduced used to be selected only on technical grounds. We report on the results of prenatal ...

Ultrasound has been found to be extremely accurate in diagnosing the chorionicity of multiple gestations. Prenatal counselling and/or planning for selective termination is most often based on the sonographic prediction of chorionicity. We present a case of triplet pregnancy in which early sonographic prediction of chorionicity did not match the ...

In order to assess the effectiveness and reliability of cytogenetic diagnosis provided by fetal blood, we report the first 186 cases of fetal blood sampling performed for rapid karyotype between 19-37 weeks of pregnancy in our Prenatal Diagnosis Unit. The overall diagnostic success rate was 98%, achieving 100% in the ...

BACKGROUND: In most cases of prenatal diagnosis of epidermolysis bullosa (EB), the subtype of severe EB from which the fetus is at risk is identified by studying the specimens of the proband. In this study, the parents of a child with an unspecified subtype of severe EB sought prenatal diagnosis ...

Prenatal diagnosis of structural anomalies provides the opportunity to influence the postnatal outcome. The greatest value of antenatal screening is, in fact, the awareness of the urogenital abnormalities, such as presumed UPJ obstruction, so that appropriate investigation and treatment can be offered immediately after birth and before permanent damage occurs ...

Rapid and safe prenatal diagnosis has become the standard of care in high-risk pregnancy. The safety and reliability of prenatal diagnosis by mid-trimester amniocentesis and first-trimester chorionic villus sampling (CVS) are reviewed, and accepted medical indications for referral are defined for both procedures. Techniques for evaluating the fetus for abnormality ...

We report a personal experience of first-trimester prenatal diagnosis of Ellis-van Creveld (EvC) syndrome based on typing of microsatellite markers flanking the EvC locus. An heterozygous fetus was diagnosed with a diagnostic accuracy of 96 per cent. The DNA prediction was confirmed by ultrasound at 22 weeks of gestation and ...

Considerable progress has been made recently in elucidating the molecular pathology underlying several forms of inherited skin diseases. One of the most immediate benefits of these discoveries has been the development of DNA-based prenatal diagnosis in pregnancies at risk for recurrence of a particular disorder. In less than 2 decades, ...