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Prenatal Diagnosis Sep 1989Over a four-year period, 140 pregnancies with different malformations detected by ultrasound were examined cytogenetically. Gestational age ranged from 13 to 36 weeks.... (Review)
Review
Over a four-year period, 140 pregnancies with different malformations detected by ultrasound were examined cytogenetically. Gestational age ranged from 13 to 36 weeks. Twenty-six fetuses (18.6 per cent) had abnormal karyotypes, including trisomies, triploidy, monosomy X, and structural anomalies. Similar malformations were found in fetuses with different chromosomal anomalies, indicating that the types of malformations are not specific for particular chromosomal anomalies. Chromosomal analysis was performed on amniotic fluid culture and by direct karyotyping of placental biopsies. Direct karyotyping is suggested to be the most rapid approach, especially if sonographic anomalies are detected close to the 24th week of gestation, shortly before delivery, and in cases of significant oligohydramnios.
Topics: Chromosome Aberrations; Chromosome Disorders; Congenital Abnormalities; Female; Gestational Age; Humans; Karyotyping; Pregnancy; Prenatal Diagnosis; Ultrasonography
PubMed: 2678086
DOI: 10.1002/pd.1970090902 -
Clinics in Laboratory Medicine Sep 2010Women with abnormal results of first trimester screening but with a normal karyotype are at risk for adverse pregnancy outcomes. A nuchal translucency of greater than... (Review)
Review
Women with abnormal results of first trimester screening but with a normal karyotype are at risk for adverse pregnancy outcomes. A nuchal translucency of greater than 3.5 mm is associated with an increased risk of subsequent pregnancy loss, fetal infection, fetal heart abnormalities, and other structural abnormalities. Abnormal levels of first trimester analytes are also associated with adverse pregnancy outcomes, but the predictive value is less impressive. As a single marker, pregnancy-associated plasma protein (PAPP)-A level less than 1st percentile has a good predictive value for subsequent fetal growth restriction. Women with PAPP-A level less than 5th percentile should undergo subsequent risk assessment with routine maternal serum afetoprotein screening with the possible addition of uterine artery pulsatility index assessment in the midtrimester.
Topics: Aneuploidy; Congenital Abnormalities; Female; Humans; Mass Screening; Nuchal Translucency Measurement; Predictive Value of Tests; Pregnancy; Pregnancy Outcome; Pregnancy Trimester, First
PubMed: 20638576
DOI: 10.1016/j.cll.2010.04.003 -
Reproductive Toxicology (Elmsford, N.Y.) 1993There is conclusive evidence that exposures of human males to ionizing radiation or certain chemicals can diminish sperm production and reduce fertility. Of... (Review)
Review
There is conclusive evidence that exposures of human males to ionizing radiation or certain chemicals can diminish sperm production and reduce fertility. Of approximately 100 chemical agents and mixtures that have been evaluated in men by semen analysis, about half (mostly drugs and a few occupational exposures) reduced sperm quantity and quality; several of these agents also affected the fertility of exposed men. It is now well recognized that the importance of the father in reproduction goes beyond fertilization. Abnormalities in paternal chromosomes (structural and numeric) have been found in various abnormal reproductive outcomes, including chromosomal abnormality syndromes among newborns. In rodent systems, exposure of males to mutagens before mating induces transmissible cytogenetic and genetic abnormalities as well as morphologic defects and cancer among offspring. Consistent with animal findings, there is growing epidemiologic evidence of associations between male exposures to exogenous agents and abnormal reproductive outcomes (fetal loss, birth defects, childhood cancer, etc.). However, no clear links have been established between exposure, mechanism of transmission, and abnormal reproductive outcomes. It is not known to what extent male-mediated birth defects and childhood cancer are due to genetic, epigenetic, or nongenetic causes. Viewed in a multigenerational context, the role of the father in abnormal reproductive outcomes is dependent on his exposure history and susceptibilities as well as those of his mate. Relevant exposures may occur any time between conception of the parents and production of their fertilizing gametes, including their development in utero, childhood, and adolescence. Efficient measurements (including biomarkers) of relevant exposure, early biologic effects, and susceptibility in human males are under development. An integrated approach is recommended for assessing male reproductive and genetic toxicity that utilizes biomarkers in (a) epidemiologic studies of exposed human populations, (b) risk characterization in sensitive laboratory species, and (c) in vivo and in vitro studies of the molecular mechanisms of action of toxicants. A special category of "bridging" biomarkers is needed for evaluating animal data for risk assessment and for discriminating among genetic, epigenetic, and nongenetic mechanisms of abnormal reproductive outcomes of paternal origin.
Topics: Adult; Animals; Child; Congenital Abnormalities; Fathers; Female; Humans; Male; Mutation; Pedigree; Reproduction; Spermatozoa; Toxicology
PubMed: 8400638
DOI: 10.1016/0890-6238(93)90064-e -
Seminars in Roentgenology Jul 1982
Topics: Abdominal Muscles; Abnormalities, Multiple; Congenital Abnormalities; Craniofacial Dysostosis; Esophageal Atresia; Female; Humans; Hydrocephalus; Kidney; Neural Tube Defects; Pregnancy; Prenatal Diagnosis; Skull; Ultrasonography
PubMed: 6214848
DOI: 10.1016/0037-198x(82)90076-1 -
Nephrology, Dialysis, Transplantation :... 2002As metanephric mesenchyme converts into nephrons, the first step is aggregation into a 'condensate'. Precursors inside this structure are proliferative and have a low... (Review)
Review
As metanephric mesenchyme converts into nephrons, the first step is aggregation into a 'condensate'. Precursors inside this structure are proliferative and have a low rate of apoptosis, accompanied by expression of PAX-2 and BCL-2 survival molecules; conversely, cells at the borders of the structure have a high rate of apoptosis, probably a normal mechanism to regulate the number of cells in each nephron. Ureteric bud/collecting duct survival and mitosis may be determined partly by renal mesenchymal secreted molecules such as hepatocyte growth factor (HGF) and glial cell line-derived neurotrophic factor. Human kidney malformations often occur with lower urinary tract obstruction, e.g. cystic dysplastic kidneys caused by urethral valves. Deregulation of cell turnover occurs in these organs, with enhanced proliferation in cystic epithelium, accompanied by PAX-2, BCL-2 and HGF receptor expression, and apoptosis in surrounding mesenchyme, which transdifferentiates under the influence of transforming growth factor-beta1 into smooth muscle instead of forming nephrons. Similar abnormalities of cell turnover and gene expression can be generated by experimental fetal urinary flow impairment. Finally, renal mesenchymal apoptosis, associated with renal hypoplasia, can be induced experimentally by maternal low protein diet.
Topics: Animals; Apoptosis; Congenital Abnormalities; Diet; Embryo, Mammalian; Embryonic and Fetal Development; Female; Humans; Kidney; Pregnancy
PubMed: 12386272
DOI: 10.1093/ndt/17.suppl_9.2 -
Reproductive Toxicology (Elmsford, N.Y.) 1991An overview will be given of a number of problems that arise when we attempt an interpretation of data obtained with the whole embryo culture method (WEC). The following... (Review)
Review
An overview will be given of a number of problems that arise when we attempt an interpretation of data obtained with the whole embryo culture method (WEC). The following aspects will be considered: 1) Types of deviation from normal development in the whole-embryo culture system: (a) problem of "artifacts" (for example, due to preparation mistakes and suboptimal culture conditions), (b) types and frequency of abnormal development in controls, retardation as an abnormal outcome, and the difficulty of assessing its significance, (c) gross-structural defects and, specifically, attempts to answer the following questions: (i) What are the limitations for an assessment of abnormal development with the WEC? (ii) Is a specific abnormality pattern recognizable under specific pathologic conditions? (iii) Is the rate of induced abnormal development concentration-dependent? (2) Problems encountered when interpreting concentration-effect relationships (for example, statistical and pharmacokinetic aspects). (3) Necessity of verifying in vitro effects with in vivo studies.
Topics: Animals; Congenital Abnormalities; Culture Techniques; Embryo, Mammalian; Embryonic and Fetal Development; Female; Humans; Pregnancy
PubMed: 1807558
DOI: 10.1016/0890-6238(91)90057-m -
Acta Morphologica Hungarica 1984The so-called 89 VACTERL cases i.e. three or more combinations of vertebral abnormalities (V), anal atresia (A), cardial abnormalities (C), tracheo-oesophageal fistula...
The so-called 89 VACTERL cases i.e. three or more combinations of vertebral abnormalities (V), anal atresia (A), cardial abnormalities (C), tracheo-oesophageal fistula and/or oesophageal atresia (TE), renal agenesis and dysplasia (R), limb defect (mainly radial-type reduction or polydactyly) (L) were evaluated in the material of the Hungarian Congenital Malformation Register, 1970-1980. The separation of true VACTERL cases (without other major congenital abnormalities) and mixed VACTERL cases (with other major congenital abnormalities) seemed to be necessary. The latter may be a manifestation of several recognized syndromes. The VACTERL-association, i.e. three or more closely defined VACTERL-type abnormalities without other major abnormalities may, however, present a distinct congenital abnormality entity because (i) the combination of VACTERL-type abnormalities is much higher than the expected one, (ii) the majority of cases could not be identified as other multiple congenital abnormality entities and (iii) it has some epidemiological characteristics (e.g. male preponderance).
Topics: Abnormalities, Multiple; Anal Canal; Child; Child, Preschool; Esophagus; Female; Heart Defects, Congenital; Humans; Hungary; Kidney; Limb Deformities, Congenital; Male; Spine; Terminology as Topic; Trachea
PubMed: 6435405
DOI: No ID Found -
The Journal of Urology Oct 2019We evaluated the live birth rate and the prevalence of congenital anomalies in couples undergoing intrauterine insemination with abnormal sperm morphology (less than 4%...
PURPOSE
We evaluated the live birth rate and the prevalence of congenital anomalies in couples undergoing intrauterine insemination with abnormal sperm morphology (less than 4% normal forms).
MATERIALS AND METHODS
We retrospectively reviewed intrauterine insemination outcomes from January 2012 to March 2015. Patients who were found to have an ultrasound confirmed clinical pregnancy were contacted to determine the live birth rate and the prevalence of congenital abnormalities. We used chi-square analysis to assess categorical variables and the Student t-test to assess continuous variables. Logistic regression was done to assess the odds of achieving pregnancy and the risk of spontaneous abortion while assessing female age, the total motile count and sperm morphology.
RESULTS
In 984 intrauterine insemination procedures performed in a total of 501 couples we found no difference in the ultrasound clinical pregnancy rate in couples with sperm morphology less than 4% vs 4% or greater (12.3% vs 13.6%, p=0.59). We collected live birth and birth abnormality data on 95 of the 130 couples with ultrasound confirmed clinical pregnancy for a 73% response rate. We found no difference in the live birth rate or the spontaneous abortion rate after an ultrasound confirmed clinical pregnancy in couples with abnormal sperm morphology (less than 4% normal forms). There was also no increased risk of birth abnormalities for patients with abnormal sperm morphology.
CONCLUSIONS
Abnormal sperm morphology impacted neither the pregnancy rate nor the live birth rate in couples undergoing intrauterine insemination. These results can be used to reassure couples who undergo intrauterine insemination that there is a minimal impact of abnormal sperm morphology on the live birth rate and the prevalence of birth abnormalities.
Topics: Adult; Birth Rate; Congenital Abnormalities; Female; Fertilization in Vitro; Follow-Up Studies; Humans; Male; Pregnancy; Pregnancy Outcome; Pregnancy Rate; Prevalence; Retrospective Studies; Sperm Count; Sperm Motility; Spermatozoa; Teratozoospermia; Treatment Outcome
PubMed: 31009287
DOI: 10.1097/JU.0000000000000288 -
The Cleft Palate Journal Apr 1990This review sets forth a broadened interpretation of the neurocristopathies based on the current understanding of the role of neural crest cells in normal development.... (Review)
Review
This review sets forth a broadened interpretation of the neurocristopathies based on the current understanding of the role of neural crest cells in normal development. Two general types of cristopathies are defined predicated on the abnormal mechanism involved in production of the defect or condition. Defects and disorders which constitute the originally defined neurocristopathies including pheochromocytoma, neurofibromatosis, and the multiple endocrine adenomatoses are best explained as dysplasias of neural crest derivatives. Affected individuals rarely exhibit true malformation of structure but do carry a lifetime risk for disordered growth of crest derived tissue. On the other hand, defects and disorders which derive from migrational abnormalities primarily of cranial neural crest cells such as frontonasal dysplasia, the DiGeorge sequence, and Waardenberg syndrome represent true malformations. The spectrum of involvement is usually definable at the time of diagnosis and disordered growth of crest derived tissue does not occur. The clinical implications of this distinction are discussed.
Topics: Cell Differentiation; Cell Movement; Congenital Abnormalities; Humans; Morphogenesis; Neural Crest; Neural Tube Defects
PubMed: 2187633
DOI: 10.1597/1545-1569(1990)027<0136:tnrbut>2.3.co;2 -
Obstetrical & Gynecological Survey Mar 1995Normal fetal growth and development during pregnancy is highly dependent upon adequate fetal movement. Limitation of movement, regardless of the underlying cause, can... (Review)
Review
Normal fetal growth and development during pregnancy is highly dependent upon adequate fetal movement. Limitation of movement, regardless of the underlying cause, can result in a particular pattern of abnormal fetal morphogenesis. This phenotype is termed the fetal akinesia deformation sequence (FADS). The etiology of fetal akinesia may be generally classified into one of five categories: neuropathy, myopathy, restrictive dermopathy, teratogen exposure, or restricted movement due to intrauterine constraint. In this article, the differential diagnosis of fetal akinesia is systematically reviewed and information regarding prenatal diagnosis, prognosis, perinatal management, and recurrence risks are discussed.
Topics: Congenital Abnormalities; Diagnosis, Differential; Fetal Movement; Humans; Prognosis
PubMed: 7739837
DOI: 10.1097/00006254-199503000-00028