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Results for “birth defect”

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At least 19 recordsLinked to original sources
PubMed1979

Reducing birth defect risk in advanced maternal age.

The incidence of birth defects increases with maternal age. Recent advances in fetal diagnosis, coupled with elective abortion, offer the older pregnant woman an opportunity to reduce this risk. To determine the magnitude of potential risk reduction, we reviewed the maternal age-specific incidence of infants born with one or more severe birth defects in metropolitan Atlanta from 1968 to 1975, removing from analysis certain anomalies that were preventable by currently available methods. For women aged 35 to 44 years, the risk of bearing an infant with a severe birth defect was reduced to a level comparable with that for younger women. Despite prenatal diagnosis and elective abortion, the risk for women aged 45 years or older, although reduced considerably, was two times greater than that for women aged 34 years or younger.

Adult↗
PubMed1976

Birth defects involving the spine.

There is a multiplicity of birth defects of the spine occurring as isolated anomalies or as aspects of multifaceted syndromes. The clinical significance of these anomalies varies from the asymptomatic to the life threatening. Symptoms and signs may present at birth or not until years later. The optimal clinical result for the patient requires a careful history and physical examination, appropriate routine and specialized roentgenograms, laboratory data, and a high index of suspicion for signs or symptoms of neurological dysfunction. When the diagnosis is made, conservative or surgical treatment may be instituted as appropriate.

Atlanto-Occipital Joint↗
PubMed1979

Prenatal testing for birth defects and nursing practice.

Recent advances in the prenatal diagnosis of birth defects including amniocentesis, ultrasound and fetoscopy are discussed. Indications, technical considerations and limitations are presented. Parental reactions to the stresses encountered during the process of prenatal diagnosis are related. Implications are identified for nursing care practice in different clinical settings including prenatal diagnostic units, paediatric services, obstetrical services and in the community.

Chromosome Aberrations↗
PubMed2026

The first 25 years of the NICHD structural birth defects initiative.

Initiated by NICHD and crafted with clinicians and laboratory scientists, the Structural Birth Defects (SBD) Initiative has supported research into the clinical, genetic, biochemical, mechanistic, developmental, and environmental basis of human disorders with structural anomalies for 25 years. The SBD Initiative has supported and continues to fund research teams studying a broad spectrum of single gene (Mendelian) disorders along with defining loci and susceptibility genes in oligogenic phenotypes, including genetic and environmental risk modifiers. The Initiative required and currently convenes biennial meetings of SBD investigators to share data, exchange ideas and initiate collaborations. In alternate years, online trainee symposia provide a platform for medical fellows, postdoctoral fellows and graduate students to present their data, with the goal of attracting and retaining this future generation of investigators in SBD research. In addition to determining their etiology, the SBD Initiative has supported remarkable progress in developing a fundamental mechanistic understanding of this diverse group of phenotypes. Together, scientific progress has led to translational benefits that include 1) widespread diagnostic testing for families with these disorders, both within the United States and across the world, and 2) pharmacological treatments for affected individuals. This progress has fulfilled the promise of the vision of the architects of the program, which is reviewed in this article, and continues to drive the field forward.

Animals↗
PubMed1975

A group training program in behavior modification for mothers of children with birth defects: an exploratory study.

This paper explores the impact of a group approach to teaching behavior modification principles and techniques to mothers of physically handicapped children. Five sessions involving presentations, discussions, and application of operant reinforcement techniques were followed by five sessions focusing on the importance of communication about the handicap, and applying the previously learned operant tecniques to opening communication in this sensitive, secretive area. Clinical and statistical findings suggest that this approach can effectively train mothers to apply the techniques, and increase their attempts to communicate with their handicapped children. Moreover, mothers' participation appeared to facilitate their children's readiness to communicate, as well as improve their children's self-esteem, enthusiasm, and likability.

Adolescent↗
PubMed1976

Anticonvulsants and parental epilepsy in the development of birth defects.

The results of two studies, one in Finland and one in the U.S.A., raise the possibility that fetal damage previously attributed to phenytoin and other anticonvulsant drugs, principally phenobarbitone, may be due to epilepsy itself. In the U.S.A., drug-exposure information was collected before delivery in a cohort of 50 282 mother/child pairs. The total malformation rate in 305 children born to epileptic mothers was 10.5%, as against 6.4% in the remainder (p less than 0.01); corresponding rates for major malformations were 6.6% and 2.7%. When the fathers had epilepsy, the malformation-rates in their children were intermediate. The rates did not vary significantly according to maternal anticonvulsants therapy. Mental and motor scores as 8 months of age, and intelligence quotient scores at 4 years were lower in children of epileptic mothers, but not in children of epileptic fathers. The scores showed only random variation according to maternal anticonvulsant therapy. In Finland, 2784 children with craniofacial anomalies were compared with an equal number of normal children; 8 and 2 mothers, respectively, received anticonvulsants, while pregnant, for epilepsy. In that study, the separate effects of the disease and its treatmet could not be evaluated. Both studies did not find evidence of fetal damage when phenobarbitone was taken for indications other than epilepsy.

Abnormalities, Drug-Induced↗
PubMed1979

Counseling the parents of birth-defective children.

Parents of a child who is diagnosed as defective face a crisis for which they are usually unprepared. They need an opportunity to work through their intense feelings. In addition, they need specific information about how to be of use to their child. Self-help groups composed of parents of children with a similar handicap can be a resource of great value during this crisis as well as in the years that follow. When such groups are not available, parents can be placed in contact with a family that is effectively raising a child with the same handicap or an adult who has successfully coped with it. Physicians should be aware of their own feelings regarding handicaps and of the effect these may have on efforts to help parents.

Attitude of Health Personnel↗