ABSTRACT
We reviewed the perinatal management and subsequent outcome of infants 401 to 800 gm birthweight delivered in 1983 to 1985 compared with those born in 1980 to 1982. Intrapartum fetal heart rate monitoring, cesarean section delivery, attempted delivery room resuscitation, and 5-minute Apgar scores greater than 5 were more frequent in 1983 to 1985. Significantly greater neonatal survival was evident for infants 500 to 700 gm birthweight (31%) and 24 to 27 weeks' gestation (45%) in 1983 to 1985, p less than 0.005. Infant birthweight, gestational age, gender, and 5-minute Apgar score, in addition to intrapartum tocolysis use, were predictors of higher survival by stepwise discriminant analysis. At a mean follow-up of 27 months, 13% (6 of 46) born in 1983 to 1985 had major disability compared with 67% (6 of 9) of infants born in 1980 to 1982. There has been a significant increase in survival and improvement in neurodevelopmental follow-up status for infants less than 801 gm birthweight. These improved outcome data should be considered by caregivers providing perinatal management and counseling parents regarding extremely low birthweight infants.
Subject(s)
Infant Mortality , Nervous System Malformations , Pregnancy Outcome/epidemiology , Apgar Score , Birth Weight , Female , Gestational Age , Heart Rate, Fetal , Humans , Infant, Low Birth Weight , Infant, Newborn , Pregnancy , Prenatal Care , TocolysisABSTRACT
We report on a case of synophthalmic cyclopia and alobar holoprosencephaly associated with an interstitial deletion of the short arm of chromosome 2: del(2)(p21p23). This is the second case with this phenotype in association with deletion in this region, and comparison with the infrequent other cases of 2p deletions suggests a causal relationship between band 2p21 and cyclopia.
Subject(s)
Abnormalities, Multiple/diagnosis , Brain/abnormalities , Chromosome Deletion , Chromosomes, Human, Pair 2 , Adult , Chromosomes, Human, Pair 13 , Chromosomes, Human, Pair 18 , Facial Bones/abnormalities , Female , Fetal Death , Humans , Karyotyping , Male , Pregnancy , Prenatal Diagnosis , Syndrome , TrisomyABSTRACT
A cDNA clone encoding a human receptor for the Fc portion of IgG (Fc gamma R), Fc gamma RIII or CD16, was isolated from a human leukocyte library by a transient expression-immunoselection procedure. This cDNA (pGP5) encodes a 46-kDa phosphatidylinositol-linked cell surface protein with CD16 determinants and affinity for human IgG. The deduced protein sequence is most homologous to the murine receptor Fc gamma RII alpha, with slightly less homology to the human receptors Fc gamma RII and Fc epsilon RI. The cDNA hybridizes to a 2.2 kilobase mRNA in human leukocytes and a cloned human natural killer cell line. Fc gamma RIII is mapped to chromosome 1 by spot-blot analysis of sorted human chromosomes. Hybridization of Fc gamma RII and Fc gamma RIII probes to restriction digests of human genomic DNA separated by pulsed-field gel electrophoresis demonstrates physical linkage of the two genes within a maximum distance of 200 kilobases. The results identify a locus for at least two Fc gamma R genes on human chromosome 1.
Subject(s)
Antigens, Differentiation/genetics , Chromosomes, Human, Pair 1 , Cloning, Molecular , Genetic Linkage , Receptors, Fc/genetics , Amino Acid Sequence , Base Sequence , Cell Line , Chromosome Mapping , DNA, Recombinant/isolation & purification , Humans , Immunoglobulin G/metabolism , Molecular Sequence Data , Receptors, IgGABSTRACT
Human receptors for IgG (Fc gamma R) play important roles in the immune response. Expression of the human Fc gamma RII gene may be relevant in immune complex related disorders such as systemic lupus erythematosus and Sjogren's syndrome. We have used spot blot analysis of dual laser-sorted human chromosomes to localize the Fc gamma RII gene to human chromosome 1. Spot blot analysis of sorted derivative chromosomes sublocalized the gene to the chromosome 1 long arm (1q12----q25.1). This subchromosomal localization involved reassigning a reciprocal chromosome translocation breakpoint. We also identified Xmn I and Taq I Fc gamma RII polymorphic restriction sites that arose before the races diverged. These common Xmn I and Taq I polymorphisms are predicted to be informative for segregation analysis with human diseases in 85% of all matings.
Subject(s)
Antigens, Differentiation/genetics , Chromosome Mapping , Chromosomes, Human, Pair 1/ultrastructure , Receptors, Fc/genetics , Biological Evolution , Blotting, Southern , Humans , Lymphocyte Activation , Mutation , Nucleic Acid Hybridization , Polymorphism, Restriction Fragment Length , Receptors, IgGABSTRACT
Chronic renal failure is strongly associated with poor pregnancy outcome. Women dependent upon hemodialysis before conception rarely achieve a successful live birth. Pregnancies in three women requiring chronic hemodialysis before conception and throughout gestation resulted in three live births, of whom one survived the neonatal period. The risks of dialysis in pregnancy (hemodialysis and peritoneal dialysis) are significant to both the mother and fetus. Polyhydramnios appears to be a major complication in women dependent upon chronic hemodialysis.
Subject(s)
Kidney Failure, Chronic/therapy , Pregnancy Complications/therapy , Pregnancy Outcome , Renal Dialysis , Adult , Female , Humans , Pregnancy , Risk FactorsABSTRACT
A fetal heart rate tracing that is notable for decreased short- and long-term variability is seen in association with normal umbilical cord blood gas values. A great vein of Galen aneurysm is diagnosed in the neonatal period. This case exemplifies a central nervous system disorder that is present before labor and is associated with normal oxygenation of the fetus and an abnormal fetal heart rate tracing. The causes of diminished fetal heart rate variability are discussed.
Subject(s)
Cerebral Veins , Heart Rate, Fetal , Intracranial Aneurysm/congenital , Adult , Embolization, Therapeutic , Female , Heart Failure/etiology , Humans , Infant, Newborn , Intracranial Aneurysm/complications , Intracranial Aneurysm/physiopathology , Intracranial Aneurysm/therapy , Male , PregnancyABSTRACT
There is obvious confusion and overlap involving these various syndromes, i.e., Roberts syndrome, SC phocomelia, and TAR syndrome. However, the patient reported here seemed to exhibit the features of shortened upper extremities, clefting, and microbrachycephaly characteristic of Roberts syndrome. Antenatal detection of Roberts syndrome may be important in that early neonatal death can be expected. Other similar syndromes may have much longer survival. Cytogenetic abnormalities may be detected as well. It appears that routine ultrasonographic assessment of humerus length in addition to femur length may yield certain diagnoses that otherwise would be missed. The parents can be counselled concerning antenatal management including the possibility of not performing a cesarean section for some abnormal presentations.
Subject(s)
Abnormalities, Multiple/diagnosis , Prenatal Diagnosis , Ultrasonography , Adult , Cleft Palate/diagnosis , Ear, External/abnormalities , Female , Humans , Humerus/abnormalities , Hydrocephalus/diagnosis , Microcephaly/diagnosis , Pregnancy , SyndromeABSTRACT
Chorioangiomas are usually small and found by careful sectioning of the placenta. In recent years ultrasonography has been used in antenatal diagnosis. Multiple and large tumors (greater than 5 cm) are associated with increases in fetal morbidity and mortality. We treated a woman who had severe polyhydramnios and a large chorioangioma with vascular channels in the tumor confirmed by Doppler studies. Daily fetal breathing was used to monitor fetal well-being.
