The relevance of pre-amniocentesis pedigree analysis and genetic counseling. 1983

B Holzgreve, and W Holzgreve, and M S Golbus

Prenatal diagnosis by amniocentesis in the second trimester of pregnancy has become widely accepted, and the demand for the procedure is increasing exponentially. It is important to reevaluate critically the time and effort spent obtaining a detailed pedigree analysis and family history prior to amniocentesis. Two hundred unselected consecutive cases of women undergoing amniocentesis because of advanced maternal age were studied. One woman had a brother with Duchenne muscular dystrophy and she was found by CPK testing to be a carrier. The prenatal diagnosis revealed that she was carrying a male fetus with a 50% chance of being affected, and the couple decided to have a termination of the pregnancy. A variety of other familial disorders and teratogenic exposures which were found in the studied 200 families were further explored through genetic counseling. Additional reasons for the individual pre-amniocentesis counseling include reducing anxiety and responding to specific psychosocial aspects of the prenatal diagnosis procedure in particular families.

UI MeSH Term Description Entries
D008423 Maternal Age The age of the mother in PREGNANCY. Age, Maternal,Ages, Maternal,Maternal Ages
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D005260 Female Females
D005817 Genetic Counseling An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered. Counseling, Genetic,Genetic Counseling, Prenatal,Prenatal Genetic Counseling
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D000649 Amniocentesis Percutaneous transabdominal puncture of the uterus during pregnancy to obtain amniotic fluid. It is commonly used for fetal karyotype determination in order to diagnose abnormal fetal conditions. Amniocenteses

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