Purpose: This study investigated the attitudes toward risk-reducing mastectomy (RRM) and risk-reducing salpingo-oophorectomy (RRSO) as cancer prevention options for BRCA1/2 carriers in healthy, young, unmarried Korean women. Materials and Methods: A nationally representative sample of 600 women, aged 20-39 years, completed a questionnaire on sociodemographic variables, preference for genetic testing, and intention to undergo risk-reducing surgeries after receiving information on the cancer risk of BRCA1/2 mutations and benefits of risk-reducing surgeries. Results: A total of 54.7% and 57.7% had the intention to undergo RRM and RRSO, respectively, on the assumption that they were BRCA1/2 carriers. Older age and no intention to undergo genetic testing were associated with a reduced likelihood of undergoing RRM (odds ratio [OR], 0.30; 95% confidence interval [CI], 0.14 to 0.61 for age 35-39 years and OR, 0.35; 95% CI, 0.20 to 0.62 for no intention for genetic testing) and RRSO (OR, 0.39; 95% CI, 0.19 to 0.79 for age 35-39 years and OR, 0.30; 95% CI, 0.17 to 0.53 for no intention for genetic testing). Women who chose to be single were likely to undergo risk-reducing surgeries (OR, 1.67; 95% CI, 1.07 to 2.60 for RRM and OR, 1.56; 95% CI, 1.00 to 2.44 for RRSO). Conclusion More than 50% of healthy, unmarried, young Korean women were inclined to undergo prophylactic surgeries if they were BRCA1/2 mutation carriers. Further studies on decision-making process for cancer prevention in individuals at high risk for cancer need to be conducted.

Purpose: This study investigated changes in attitudes toward marriage and childbearing assuming a BRCA1/2 mutation carrier status among healthy, unmarried individuals in Korea. Methods: A nationally representative sample of healthy, unmarried individuals aged 20–39 years was surveyed. A questionnaire on marriage and childbearing intentions was administered to the participants before and after providing them with information on BRCA1/2 mutation carriers’ breast and ovarian cancer risks and their autosomal dominant inheritance pattern. The participants were asked about their attitudes toward childbearing through preimplantation genetic diagnosis (PGD). Results: Of the participants who initially wanted to marry, the assumption that they or their partners had BRCA1/2 mutation caused 25.3% to no longer want to get married and 36.2% to change their attitude from wanting to bear children to no longer wanting them. Females were more likely than males to change their attitudes toward marriage and childbearing. The participants who had negative attitudes toward genetic testing were more likely to change their attitudes regarding marriage and childbearing than those who were favorable toward both disclosure and testing. More than 50% of the participants who did not want children were willing to bear children through PGD when it was assumed that they were BRCA mutation carriers. Conclusion On the assumption of being carriers, general, young, and healthy females were more likely than males to negatively change their attitudes toward marriage and childbearing. Public education on the implications of living with mutation carriers and reproductive options may be required.

No abstract available.
Consensus ; Hyperthyroidism ; Thyroid Gland

We report on two cases of pericentric inversion of X chromosome. The cases were found in a 40-year- old man with azoospermia and in a family of a 38-year-old pregnant woman. The first case with 46,Y,inv(X)(p22.1q27) had concentrations of LH, prolactin, estradiol, and testosterone that were within normal ranges; however, FSH levels were elevated. Testis biopsy revealed maturation arrest at the primary and secondary spermatocytes without spermatozoa. There were no microdeletions in the 6 loci of chromosome Y. For the second case, the cytogenetic study of the pregnant woman referring for advanced maternal age and a family history of inversion X chromosome was 46,X,inv(X)(p22.11q27.2). The karyotype of her fetus was 46,X,inv(X)(p22.1q27). Among other family members, the karyotypes of an older sister in pregnancy and her fetus were 46,X,inv(X)(p22.11q27.2), and 46,Y,inv(X), respectively. The proband's father was 46,Y,inv(X)(p22.11q27.2). All carriers in the family discussed above were fertile and phenotypically normal. In addition, the ratio of inactivation of inv(X) by RBG-banding was discordant between the two sisters, with the older sister having only 4.1% of cells carrying inactivated inv(X) while the proband had a 69.5% incidence of late replicating inv(X). Therefore, we suggest that the cause of azoospermia in the first case might be related to inversion X chromosome with positional effect. Also, the family of the second case showing normal phenotype of the balanced inv(X) might be not affected any positional effect of genes.
Adult ; Azoospermia ; Biopsy ; Cytogenetics ; Estradiol ; Fathers ; Female ; Fetus ; Humans ; Incidence ; Karyotype ; Lifting ; Male ; Maternal Age ; Phenotype ; Pregnancy ; Pregnant Women ; Prenatal Diagnosis ; Prolactin ; Siblings ; Spermatocytes ; Spermatozoa ; Testis ; Testosterone ; X Chromosome

OBJECTIVE: To evaluate the image characteristics of subtraction magnetic resonance venography (SMRV) from time-resolved contrast-enhanced MR angiography (TRMRA) compared with phase-contrast MR venography (PCMRV) and single-phase contrast-enhanced MR venography (CEMRV). MATERIALS AND METHODS: Twenty-one patients who underwent brain MR venography (MRV) using standard protocols (PCMRV, CEMRV, and TRMRA) were included. SMRV was made by subtracting the arterial phase data from the venous phase data in TRMRA. Co-registration and subtraction of the two volume data was done using commercially available software. Image quality and the degree of arterial contamination of the three MRVs were compared. In the three MRVs, 19 pre-defined venous structures (14 dural sinuses and 5 cerebral veins) were evaluated. The signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) of the three MRVs were also compared. RESULTS: Single-phase contrast-enhanced MR venography showed better image quality (median score 4 in both reviewers) than did the other two MRVs (p < 0.001), whereas SMRV (median score 3 in both reviewers) and PCMRV (median score 3 in both reviewers) had similar image quality (p ≥ 0.951). SMRV (median score 0 in both reviewers) suppressed arterial signal better than did the other MRVs (median score 1 in CEMRV, median score 2 in PCMRV, both reviewers) (p < 0.001). The dural sinus score of SMRV (median and interquartile range [IQR] 48, 43-50 for reviewer 1, 47, 43-49 for reviewer 2) was significantly higher than for PCMRV (median and IQR 31, 25-34 for reviewer 1, 30, 23-32 for reviewer 2) (p < 0.01) and did not differ from that of CEMRV (median and IQR 50, 47-52 for reviewer 1, 49, 45-51 for reviewer 2) (p = 0.146 in reviewer 1 and 0.123 in reviewer 2). The SNR and CNR of SMRV (median and IQR 104.5, 83.1-121.2 and 104.1, 74.9-120.5, respectively) were between those of CEMRV (median and IQR 150.3, 111-182.6 and 148.4, 108-178.2) and PCMRV (median and IQR 59.4, 49.2-74.9 and 53.6, 43.8-69.2). CONCLUSION: Subtraction magnetic resonance venography is a promising MRV method, with acceptable image quality and good arterial suppression.
Adult ; Aged ; Cerebral Veins/radiography ; Cranial Sinuses/radiography ; Female ; Humans ; Magnetic Resonance Angiography/instrumentation/*methods ; Male ; Middle Aged ; Signal-To-Noise Ratio

Congenital myotonic dystrophy is a severe and early-onset form of myotonic dystrophy (DM) with a prevalence of 2.5-5.5/100,000 live births. Expansion of the trinucleotide CTG repeat in the 3 untranslated region of the DM gene, which is located at a chromosome 19q13.3 is a common mutation in DM. Clinical features are generalized hypotonia (floppy infant), respiratory and feeding difficulty, and the neonatal mortality rate is approximately 40%. We experienced a case of recurrent congenital myotonic dystrophy, and report with a review of related literatures. Women with recurrent neonatal hypotonia or ultrasonographic evidence of hypotonia, including positional abnormalities of the extremities and idiopathic polyhydramnios, should be offered testing for the genetic studies for myotonic mutation, such as PCR (Polymerase chain reaction) analysis and Southern blot analysis.
Blotting, Southern ; Diagnosis* ; Extremities ; Female ; Humans ; Infant ; Infant Mortality ; Live Birth ; Muscle Hypotonia ; Myotonic Dystrophy* ; Polyhydramnios ; Polymerase Chain Reaction ; Prenatal Diagnosis ; Prevalence ; Untranslated Regions

Congenital myotonic dystrophy is a severe and early-onset form of myotonic dystrophy (DM) with a prevalence of 2.5-5.5/100,000 live births. Expansion of the trinucleotide CTG repeat in the 3 untranslated region of the DM gene, which is located at a chromosome 19q13.3 is a common mutation in DM. Clinical features are generalized hypotonia (floppy infant), respiratory and feeding difficulty, and the neonatal mortality rate is approximately 40%. We experienced a case of recurrent congenital myotonic dystrophy, and report with a review of related literatures. Women with recurrent neonatal hypotonia or ultrasonographic evidence of hypotonia, including positional abnormalities of the extremities and idiopathic polyhydramnios, should be offered testing for the genetic studies for myotonic mutation, such as PCR (Polymerase chain reaction) analysis and Southern blot analysis.
Blotting, Southern ; Diagnosis* ; Extremities ; Female ; Humans ; Infant ; Infant Mortality ; Live Birth ; Muscle Hypotonia ; Myotonic Dystrophy* ; Polyhydramnios ; Polymerase Chain Reaction ; Prenatal Diagnosis ; Prevalence ; Untranslated Regions

The purpose of this study was to evaluate whether maternal serum (MS) and amniotic fluid (AF) inhibin A levels are elevated in patients who subsequently develop severe preecalmpsia, and to investigate the correlation between MS and AF inhibin A levels in the second trimester. The study included 40 patients who subsequently developed severe preecalmpsia and 80 normal pregnant women. Inhibin A levels in MS and AF were measured with enzyme-linked immunosorbent assay (ELISA). The MS and AF inhibin A levels in patients who developed severe preeclampsia were significantly higher than those in the control group (both for p<0.001). There was a positive correlation between MS and AF inhibin A levels in patients who developed severe preeclampsia (r=0.397, p=0.011), but not in the control group (r=0.185, p=0.126). The best cutoff values of MS and AF inhibin A levels for the prediction of severe preeclampsia were 427 pg/mL and 599 pg/mL, respectively; the estimated ORs that were associated with these cut-off values were 9.95 (95% CI 3.8-25.9, p<0.001) and 6.0 (95% CI 2.3-15.8, p<0.001). An elevated level of inhibin A in MS and AF at the time of second trimester amniocentesis may be a risk factor for the subsequent development of severe preeclampsia.
Risk Factors ; Pregnancy Trimester, Second ; Pregnancy Outcome ; Pregnancy ; Pre-Eclampsia/*blood/*metabolism ; Middle Aged ; Maternal Age ; Inhibins/*biosynthesis/*blood ; Humans ; Gestational Age ; Female ; Case-Control Studies ; Amniotic Fluid/*metabolism ; Amniocentesis ; Adult

We present frequencies of fetal chromosomal abnormalities in 4,907 prenatal cytogenetic examinations at Samsung Cheil Hospital from 1988 to 1997 for 10 yr duration. Prenatal karyotypes were undertaken in 3,913 amniotic fluid samples, 800 chorionic villi samples, and 194 percutaneous umbilical blood samples. The frequency of fetal abnormal karyotypes was 3.1% (150 cases). Numerical chromosome abnormalities were 87 cases (1.8%) and structural aberrations of chromosomes were 63 cases (1.3%). In the numerical chromosomal abnormalities, the frequency of trisomy 21 was by far the highest (36 cases), followed by trisomy 18 in 22 cases and sex chromosome aneuploidies in 19 cases. In the structural chromosomal aberrations, 5 cases had the inversions in chromosome 2, 7, 17, and Y. Chromosomal deletions in 6 cases and additions in 4 cases were analysed. Of the remaining 47 translocation in abnormal fetuses, reciprocal translocation was in 26 cases and Robertsonian translocation in 21 cases. Among them, 41 cases were balanced translocation and 6 were unbalanced. Thirty five cases of translocation were inherited from one of the parents. Four had de novo chromosome rearrangements, and 8 cases were unknown.
Chromosome Abnormalities/classification/*diagnosis ; Female ; Human ; Institutionalization ; Inversion (Genetics) ; Karyotyping ; Life Change Events ; Pregnancy ; Prenatal Diagnosis/*trends ; Retrospective Studies ; Translocation (Genetics)

The aim of this study was to examine the incidence and clinical outcome of de novo chromosomal aberrations retrospectively and provide useful data for genetic counseling in the prenatal cytogenetic diagnosis. We found 17 cases of de novo chromosomal aberrations in 5,501 cases of prenatal cytogenetic analysis and reviewed the karyotype, further study, medical records, fetal ultrasound findings and clinical outcomes. Out of the 17 de novo chromosomal aberrations, 5 had balanced reciprocal translocations and 12 had unbalanced translocations characterized as deletion, addition, or marker. In the case of the five balanced reciprocal translocations, 3 cases without abnormal ultrasound findings were carried to term after comprehensive genetic counseling. Neonates were phenotypically normal and clinical examinations were normal. Two cases with abnormal ultrasound findings were terminated therapeutically. Twelve cases of unbalanced translocations were terminated except one case with a mosaic marker chromosome. High resolution fetal ultrasound and detailed cytogenetic and molecular study will be adjunctive tools for predicting the karyotype/phenotype correlations of fetuses with de novo chromosomal aberrations, although they have limitation to find all phenotypic effects.
*Chromosome Aberrations ; Female ; Fetal Diseases/epidemiology/*genetics/ultrasonography ; *Genetic Counseling ; Human ; Incidence ; Karyotyping ; Pregnancy ; Pregnancy Outcome ; Retrospective Studies ; Translocation (Genetics) ; Ultrasonography, Prenatal