ABSTRACT
The purpose of this study was to measure anxiety in pregnant women who had low maternal serum alpha-fetoprotein (MSAFP) screening test levels, received genetic counselling and chose to undergo amniocentesis for fetal chromosome analysis. Their anxiety levels were compared with the levels in women undergoing amniocentesis because of advanced maternal age. The results indicate a higher level of anxiety in women with low alpha-fetoprotein (AFP) levels.
Subject(s)
Anxiety , Pregnancy/psychology , alpha-Fetoproteins/deficiency , Adult , Age Factors , Amniocentesis/psychology , Analysis of Variance , Down Syndrome/diagnosis , Female , Genetic Testing/psychology , HumansABSTRACT
We describe two families with insertional translocations. In the first, a large family ascertained because of repeated pregnancy loss, the insertional translocation, ins(1;3)(q32;p13pter), was found to be segregating through three generations. In the second family, ascertained through a proposita with congenital malformations, multiple spontaneous abortions also occurred. The father had an insertional translocation, inv 4(p14,q21.1)ins(7,4)(q32;q21.1 q23). These cases illustrate that recurrent fetal wastage may be caused by insertional translocations and in fact may be the only clinical manifestation of this unusual type of chromosome rearrangement.
Subject(s)
Chromosomes, Human, Pair 1 , Chromosomes, Human, Pair 3 , Chromosomes, Human, Pair 4 , Chromosomes, Human, Pair 7 , DNA Transposable Elements , Translocation, Genetic , Female , Humans , Infant, Newborn , Karyotyping , Male , PedigreeABSTRACT
This study was performed to determine if sibs and other relatives of individuals with trisomy 21 are themselves at increased risk for having offspring with trisomy 21. The results suggest that the reproductive risk to these relatives is not increased beyond the risk to the general population.
Subject(s)
Down Syndrome/genetics , Female , Genetic Counseling , Humans , Male , RiskABSTRACT
The finding of trisomy 20 mosaicism in amniotic fluid is a cause of considerable anxiety for both physicians and parents. Although the significance of this finding is still not clear, some reassurance can be given to prospective parents, since the outcome has been normal in all reported pregnancies carried to term. Follow-up information on psychomotor development of these infants is needed in order to provide better genetic counseling to these families. We have followed three infants who have had normal growth and psychomotor development up to approximately 2 years.
Subject(s)
Amniocentesis , Chromosomes, Human, 19-20 , Genetic Counseling , Mosaicism , Trisomy , Abnormalities, Multiple/genetics , Female , Follow-Up Studies , Humans , Infant , Infant, Newborn , Intellectual Disability/genetics , Male , Phenotype , Pregnancy , Psychomotor Disorders/geneticsABSTRACT
To determine whether amniocentesis should be recommended to couples who have had multiple spontaneous abortions, we obtained information on the subsequent pregnancy outcome for 70 couples who had had two or more pregnancy losses. Fifty-two (74%) had one or more successful pregnancies, resulting in 64 newborns, all but 1 of whom were normal; the abnormal infant had a normal chromosome analysis.
Subject(s)
Abortion, Habitual/genetics , Chromosome Aberrations , Amniocentesis , Female , Follow-Up Studies , Humans , Infant, Newborn , Karyotyping , Male , Pregnancy , PrognosisSubject(s)
Prenatal Diagnosis , Adult , Congenital Abnormalities/diagnosis , Female , Genetic Diseases, Inborn/diagnosis , Humans , PregnancySubject(s)
Down Syndrome/epidemiology , Adolescent , Adult , Female , Humans , Infant, Newborn , Maternal Age , Rhode IslandSubject(s)
Thalamic Diseases/genetics , Female , Genes, Recessive , Genetic Counseling , Humans , Infant, Newborn , Male , RiskSubject(s)
Chromosomes, Human, 16-18 , Trisomy , Humans , Infant, Newborn , Massachusetts , Rhode Island , Space-Time Clustering , Statistics as TopicABSTRACT
A Vietnamese couple were both carriers of alpha-thalessemia-1. The woman had a first pregnancy terminated in the delivery of a hydropic fetus due to homozygous alpha-thalassemia. The couple requested prenatal diagnosis for the second pregnancy. The DNA obtained from cultured amniotic fluid cells was studied pregnancy. The DNA obtained from cultured amniotic fluid cells was studied by hybridization with globin cDNA in solution and on filters (Southern technique). Both analyses demonstrated no alpha-globin structural genes were present. Following termination of the pregnancy, the diagnosis was established by the presence of only hemoglobins Barts (gamma 4) and Portland (zeta 2 gamma 2) in the fetal blood.
