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PubMed1985

The metabolic and endocrine milieu of the human fetus and mother at 18-21 weeks of gestation. I. Plasma amino acid concentrations.

Plasma levels of 17 amino acids were measured in 10 conscious mothers and their minimally stressed fetuses (mean body weight 302 g) at 18-21 wk gestation. Simultaneous blood samples were taken from the maternal antecubital vein, and from the fetal umbilical vein and artery by fetoscopy prior to termination of pregnancy. The mean concentrations of all amino acids were significantly higher in the fetal (2.26 mmol/liter) than in the maternal (0.96 mmol/liter) circulation, the total molar concentration of amino acids was 2.4 times greater in fetal than in maternal plasma. There was a significant positive relationship between maternal and fetal levels for most amino acids; the mean umbilical concentration difference was significantly positive for glycine, alanine, isoleucine, leucine, phenylalanine, and histidine.

Abortion, Induced↗
PubMed1976

Antepartum evaluation of the high-risk fetus: problems and prospects.

The chief obstetrical problems encountered today in the prenatal evaluation of the high-risk fetus are presented. Advantages and pitfalls or recent techniques utilized in the management of the high-risk pregnancy are discussed. They include: a prenatal scoring system for identifying the high-risk population; examination of the karyotype of cells in amniotic fluid, and quantitation of alpha-fetoprotein levels in maternal plasma and amniotic fluid for the early prenatal detection of birth defects; ultrasonography for the intrauterine diagnosis of fetal growth retardation and assessment of fetal maturity; the use of maternal urinary estriol excretion, maternal plasma human placental lactogen levels and the oxytocin stress test for the early detection of fetal distress; estimation of fetal maturity by amniotic fluid analysis of lecithin or lecithin-sphingomyelin ratios, creatinine and Blue Nile fetal cell staining. Newer, still experimental, techniques (e.g., fatal breathing movements, fetoscopy, and dehydroepiandrosterone plasma clearance) are viewed in light of further possible decreases in maternal and perinatal mortality.

Amniocentesis↗
PubMed1987

Physiologic assessment of fetal compromise: biomarkers of toxic exposure.

Understanding the physiologic and endocrinologic basis of fetal development is a major goal of perinatal biology. During the past decade a number of technological developments have allowed more precise evaluation of the fetus in utero and diagnosis of abnormalities. Despite these methodological achievements, however, there are no specific biological markers currently available to indicate that exposure to a given xenobiotic is associated with a cellular, subcellular, or pharmacodynamic event. This paper evaluates the following issues: What are some of the unique physiologic and endocrinologic features of the fetal milieu intérieur? What problems are peculiar to fetal assessment? Of what value are techniques such as ultrasonography, amniocentesis, chorionic villus sampling, fetoscopy, and fetal blood and tissue sampling for obtaining appropriate biomarkers? What are some examples of validated biomarkers and their applicability? What promising biomarkers are on the horizon? What are some of the promising techniques such as the evaluation of fetal body movements, breathing activity, electronic heart rate monitoring, and nuclear magnetic resonance? How may molecular probes be of value as biological markers of fetal compromise? What are some of the major research gaps and needs, and how should research priorities be set? Some of these topics are addressed. Moreover, the more general role(s) that various diagnostic methods and biological markers can have in an understanding of the regulation of fetal growth and differentiation and the role of xenobiotics in affecting the normal course of events are discussed.

Abnormalities, Drug-Induced↗
PubMed1996

GM1-gangliosidosis presenting as nonimmune hydrops fetalis: a case report.

We report a new case of GM1-gangliosidosis diagnosed in a 5 months old baby who was admitted at birth to our Neonatology Unit because of congenital ascites. The antenatal diagnostic techniques, including ultrasound, maternal antibody screen and fetoscopy with fetal karyotyping, as well as postnatal exhaustive study, failed to determine the underlying cause. Because of progressive neurologic deterioration a lysosomal storage disease was suspected and confirmed by skin biopsy. We wish to add a new case of a lysosomal storage disease to the growing list of nonimmune hydrops fetalis etiologies, and to highlight the importance of enzymatic studies in chorionic villous sample or amniotic cultured cells, once the most common conditions associated with fetal ascitis have been ruled out.

Adult↗
PubMed2003

Hypohidrotic ectodermal dysplasia: prenatal diagnosis by three-dimensional ultrasonography.

Ectodermal dysplasia is the term used to describe a group of rare congenital anomalies characterized by abnormal development of 1 or several ectoderm-derived tissues. At least 154 different types, divided into 11 clinical subgroups, have been recognized. Among them, the hypohidrotic type is the most common form, with an incidence of 1 per 10,000 to 1 per 100,000 live births. This condition, originally known as anhidrotic ectodermal dysplasia because of the notable reduction of sweat gland function, is clinically characterized by hypohidrosis, hypotrichosis, and hypodontia. Most cases are inherited as an X-linked recessive trait, with the gene responsible being mapped to Xq12-q13.1. The autosomal recessive and dominant patterns of inheritance have also been documented. Prenatal diagnosis of this condition has been reported previously in high-risk pregnancies on the basis of histologic analysis of fetal skin obtained by second-trimester fetoscopy-guided skin biopsy. DNA-based linkage analysis has also made the diagnosis possible with the use of chorionic villi in the first trimester. In this report, we describe noninvasive prenatal diagnosis of hypohidrotic ectodermal dysplasia in a pregnancy at risk for this condition. The diagnosis was achieved by identification of the distinct facial features at 30 weeks' gestation on three-dimensional (3D) ultrasonography.

Adult↗
PubMed1980

Some moral dimensions in genetic counseling.

Diagnostic techniques such as fetoscopy and amniocentesis raise moral questions about the propriety of genetic testing and the content of genetic counseling. A Christian genetic counselor must make ethical decisions about what information to convey to clients.

Catholicism↗
PubMed2002

Prenatal diagnosis of cloacal anomalies.

OBJECTIVE: To evaluate prenatal diagnosis in facilitating prenatal counselling and planning optimal perinatal care for persistent cloaca, a complex malformation with variable presentation and a difficult reconstructive challenge for the paediatric urologist and surgeon. PATIENTS AND METHODS: The prenatal records of six patients with a suspected prenatal diagnosis of cloacal anomaly, subsequently confirmed on delivery, were reviewed. All had serial prenatal ultrasonograms. Fetal medicine and paediatric surgical specialists were present for the scans and counselled the parents jointly. RESULTS: The diagnosis was made at 19-33 weeks of gestation; all fetuses had a cystic structure arising from the pelvis and bilateral hydronephrosis, with a poorly visualized fetal bladder in most. Other prenatal features included transient fetal ascites, oligohydramnios, ambiguous genitalia and growth retardation. Female karyotype was confirmed in all cases by amniocentesis. Diagnosis was aided in two patients by fetoscopy and in another by magnetic resonance imaging. CONCLUSIONS: Cloacal anomalies can be diagnosed prenatally and should be considered in any female fetus presenting with bilateral hydronephrosis, a poorly visualized bladder and a cystic lesion arising from the pelvis. Prenatal diagnosis allows time for parental counselling and planning of the delivery at a centre equipped with neonatal intensive-care and paediatric surgical facilities.

Cloaca↗
PubMed1991

Molecular analysis and chorionic villus sampling (CVS): opportunities for rapid prenatal diagnosis in the military.

Prior to recent advances in the field of molecular biology, prenatal diagnosis of hemoglobinopathies was accomplished by direct analysis of the gene product(s) in samples obtained by fetoscopy or, more recently, percutaneous umbilical blood sampling. The use of the polymerase chain reaction enables quicker diagnosis than with indirect or cumbersome Southern blot techniques. This case, reporting a couple at risk for fetal sickle cell disease, is a model for rapid prenatal diagnosis and demonstrates the capabilities which exist in the military health care referral system. Within 24 hours of a couple's presentation for consultation and accomplishment of chorionic villus sampling (CVS), preliminary results of both cytogenetic and sickle cell status of an at-risk fetus were determined. Final analysis was accomplished by 48 hours. The combination of early referral, early sampling by CVS, and application of advances in DNA laboratory technologies offers tremendous improvements for care heretofore unavailable as a complete "package" in the military. The implications and limitations for prenatal testing for single gene disorders within the military medical health care system will be discussed.

Adult↗
PubMed1991

[Clinical significance of factors affecting the course of pregnancy and the status of newborn infants born to women with uterine scar].

Clinical, ultrasonic (fetoscopy, placentography, Doppler metry of uteroplacental and fetoplacental blood flow), and radioimmunological methods (measurement of follicle-stimulating and luteinizing hormones, estradiol, estriol, progesterone) were used to examine 98 pregnant with a cicatrix onto the uterus. The early neonatal period was studied thoroughly in some newborns. The acid-base balance, umbilical vascular blood gases, arterial blood oxygen saturation, heart rate, blood pressure, and body temperature were measured. Having no clear-cut negative action on the uteroplacental and fetoplacental blood flow, an inadequate cicatrix was found to be a risk factor for fetal hypotrophy. Due to lower adaptative possibilities, the newborns to mothers having a cicatrix onto the uterus should constitute a risk group for complications in the neonatal period. It is concluded that repeated elective cesarean section performed in the period close to delivery is one of the factors that lower perinatal mortality and morbidity of babies born to mothers with a cicatrix on the uterus.

Adult↗
PubMed1991

[Prenatal diagnosis of lethal junctional epidermolysis bullosa by fetal skin biopsy].

A 22-year-old woman, whose first infant had died of lethal junctional epidermolysis bullosa (JEB), requested prenatal diagnosis for her third pregnancy. At 20 weeks gestation, fetal biopsy was performed under direct vision by fetoscopy. A semithin section of epon-embedded skin showed dermo-epidermal separation at the light microscopic level. Electron microscopy revealed the site of separation to be within the lamina lucida of the epidermal basement membrane (EBM). Indirect immunofluorescence on a 5 microns cryostat specimen of skin showed a complete absence of GB3 monoclonal antibody immunostaining at the EBM compared with a control 18 week old normal fetal skin sample. The diagnosis was therefore made that the fetus was affected with lethal JEB and a prostaglandin termination performed. The diagnosis was confirmed by further studies on the aborted fetus. 54 cases of prenatal diagnosis of various types of epidermolysis bullosa performed at Institute of Dermatology over the last 10 years are briefly reviewed. Several social and practical problems to launch prenatal diagnosis in Japan are also discussed.

Adult↗
PubMed1991

[Congenital anomalies of the central nervous system--from the pediatric standpoint].

Congenital anomalies of the central nervous system frequently cause severe emotional, economic, and physical hardship for both the child and the family. Craniofacial and developmental abnormalities may cause social unacceptability. Congenital hydrocephalus may result in neonatal death or mental and motor disabilities. Frequent hospitalization of prolonged institutionalization may be necessary for the many surviving patients. With recent advances in the diagnostic techniques of amniocentesis, fetoscopy, ultrasound, computerized tomography (CT) and magnetic resonance imaging (MRI), an improved accuracy in the diagnosis of fetal abnormalities and in the determination of prognosis is possible in many instances. When confronted with the diagnosis of congenital anomalies of the central nervous system during the intra-uterine period, there are five options for management: 1) no intervention; 2) termination of the pregnancy; 3) allowing pregnancy to proceed to term; 4) induction of preterm delivery followed by postnatal intervention; and 5) intrauterine surgical intervention. However, in practice it may be very difficult to choose the best opinion. In order to help make such decisions, this paper reviewed the current understanding of the main congenital anomalies of the central nervous system. According to a 17 year survey of major congenital neurologic malformations in the USA, the incidence of major central nervous system anomalies (anencephaly, spina bifida and encephalocele) has been declining. This has also been found in Japan. In the USA an organization was established--The Medical Task Force on Anencephaly--for the purpose of offering guidelines on the ethical issues relating to anencephaly, especially in regard to the use of fetal organs in transplantation.(ABSTRACT TRUNCATED AT 250 WORDS)

Anencephaly↗
PubMed1990

[Cordocentesis for prenatal diagnosis].

Cordocentesis for prenatal diagnosis was being performed in the seventies during the process of fetoscopy. Since then the technique has been used as a diagnostic tool for intrauterine infection, hematological and metabolic disorders and metabolic status of the fetus; and for rapid cytogenic analysis. We report our first 207 cordocenteses performed since December 1985. First puncture was successful in half the cases. The procedure resulted in termination of pregnancy in only 0.96% of cases. Though a new technique, cordocentesis is playing a major role in modern perinatology. The possibility of a direct route to fetal blood vessels early in pregnancy would lead to earlier diagnosis and treatment.

Blood Specimen Collection↗
PubMed1990

[An example of detection of heterozygotes and antenatal diagnosis in four families with anhidrotic ectodermal dysplasia].

Anhidrotic ectodermal dysplasia is an X-linked inherited skin disorder; only affected males exhibit the complete syndrome, whereas females may have a few mild features. The gene involved in this disease is located in the proximal area of the long arm of the X chromosome, in the q13 position. Molecular analysis is very helpful for calculating the risk of transmission in sisters with normal phenotypes and affected individuals (family 1 provides an example), but cannot solve all problems (example of family 4). The best results are obtained when there are two informative markers, each located on either side of and very close to the mutant gene. Molecular analysis can also be applied to chorionic villi sampled at the tenth week of gestation in order to achieve antenatal diagnosis in male fetuses in high risk families. Until recently, antenatal diagnosis could be performed only at the twentieth week of gestation by the demonstration of inadequate development of skin glands in skin biopsy specimens sampled under fetoscopy. Family 2 provides an example of antenatal diagnosis and highlights the risk of error that always exists in molecular analysis studies.

Ectodermal Dysplasia↗
PubMed1989

[Prenatal diagnosis of severe and hereditary immune deficiencies].

Antenatal diagnosis is now available for most severe inherited immune deficiencies. Several techniques are used: the development of methods for sampling fetal tissue as soon as the tenth week of gestation has made possible the antenatal diagnosis of immune deficiencies associated with detectable enzyme defects, and, in combination with recent molecular biology techniques, can be expected to allow early identification of severe combined immune deficiencies due to the absence of T lymphocyte precursors, agammaglobulinemia, and some instances of X-linked chronic granulomatous disease. A great number of immune deficiencies can be identified by direct studies of fetal lymphocytes or polymorphonuclear leukocytes in fetal blood sampled by fetoscopy at the twentieth week of gestation. Fetal blood studies combined with skin biopsy examination allows the diagnosis of immune defects associated with partial albinism such as Chediak-Higashi disease. No reliable antenatal diagnostic method is as yet available for two severe diseases: Wiskott-Aldrich syndrome, that can be expected to become detectable in utero using molecular biology techniques, and ataxia-telangiectasia. Antenatal diagnosis of a severe immune deficiency does not necessarily indicate termination of the pregnancy as in some cases, such as severe combined immune deficiencies, HLA-identical bone marrow transplantation at birth or in utero is permanently successful in over 90% of cases.

Female↗
PubMedDate not supplied

[Prenatal diagnosis of congenital toxoplasmosis].

Primary Toxoplasmosis is devoid of any consequences in the mother in most cases, while the fetus can suffer serious damages following transplacental passage of the parasite. This is probably due to its limited immunocompetence. 440 women have been seen for suspected primary infection during pregnancy: clinical and serological parameters excluded infection in 62% of the cases. In 168 cases primary infection was likely and they underwent therapy with Spiramycin 3 grams per day to prevent placental and fetal colonization: 53 cases were elected for invasive prenatal diagnosis. Amniotic fluid was obtained by amniocentesis and fetal blood by ultrasound guided cordocentesis and by fetoscopy: the samples were analyzed for specific anti Toxoplasma IgM and sent for isolation of the parasite. Diagnosis of fetal infection was made in 4 cases: 3 cases had specific IgM in cord blood, 1 case showed intracranial calcifications by ultrasound screening. Fetal infection rate is thus below 10% and prenatal diagnosis avoids unjustified interruption of pregnancies complicated by maternal toxoplasmic infection.

Adult↗
PubMed1987

Combined use of DNA probes in first-trimester prenatal diagnosis of hemophilia A.

First-trimester prenatal diagnoses of hemophilia A were heretofore obtained by using either intragenic factor VIII markers or linked extragenic polymorphic markers. Postulating that the combined use of all the available intragenic and extragenic markers can render such diagnoses more frequently feasible and more reliable, we carried out ten first-trimester prenatal diagnoses in male fetuses at risk for hemophilia A by DNA analysis of chorionic villus employing in combination the intragenic Bcl I polymorphism and the St 14 (DXS 52) or DX 13 (DXS 15) extragenic probes. A diagnosis of hemophilia was obtained in three fetuses, with a diagnosis of normal fetus obtained in the remaining seven. Seven diagnoses are confirmed by factor VIII assays carried out at the time of abortion, in the mid-trimester or at birth. A factor VIII probe recognizing Bcl I polymorphism was useful in 4 of 6 diagnoses; St 14, in 5 of 6; and DX 13 in 3 of 5. In two cases, St 14 was the only useful probe for diagnosis. Even though no recombination between extragenic probes and factor VIII gene was detected in this study, when only extragenic markers were informative we advised diagnostic confirmation on fetal plasma obtained by fetoscopy. Hence, first-trimester prenatal diagnosis of hemophilia A is feasible for the great majority of fetuses at risk through combined use of all the available intragenic and extragenic probes, providing key family members are available.

Adult↗
PubMed1987

The prevention of genetically determined orthopaedic defects.

Prevention of genetically determined orthopaedic disorders requires five steps: detection, the establishment of an accurate and specific diagnosis, the establishment of the pattern of inheritance, counseling, and management by early treatment, avoidance of pregnancy, or elective abortion. Elective abortion should only be considered after the diagnosis has been confirmed in utero by one or more diagnostic tests, which include radiography, ultrasound, amniocentesis, fetoscopy, fetal blood sampling, and chorionic villi biopsy sampling.

Bone Diseases, Developmental↗
PubMed1987

[Fetal blood sampling by liver puncture].

Fetal blood sampling has been performed in several ways; placentacentesis, fetoscopy, or umbilical code puncture. The problems with these methods are technical difficulties and contamination of maternal blood or amniotic fluid. To solve these problems, we have tried fetal blood sampling by fetal liver puncture with a 21 approximately 23 gauge needle through the maternal abdomen under real time scan guidance. 10 patients underwent this procedure. They ranged from 18 weeks to 22 weeks of gestation at the time of sampling. The sampling procedures were done easily and the samples taken were shown to be pure fetal blood by red blood cell sizing. All the patients continued pregnancy after the examination and none of the pregnancies was influenced by the puncture. 7 patients have been delivered with neither sampling scars nor damage to liver function. This method provides pure fetal blood, the procedure is simple and, in our experience, no complications have occurred.

Adult↗