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1.
Journal of Genetic Medicine ; : 17-21, 2012.
Article in English | WPRIM | ID: wpr-66746

ABSTRACT

PURPOSE: The aim of this study was to analyze parental decisions regarding pregnancies in which the fetus had sex chromosome abnormalities (SCA) over a ten-year period. MATERIALS AND METHODS: We collected and reviewed records from our hospital for 2001-2010 and a genetic specialist provided-genetic counseling. RESULTS: We diagnosed 130 cases (0.71%) with SCA out of 18,376 prenatal cases from 2001 to 2010. We reviewed the records and the results of all pregnancies. We also included cases (n=84) of apparently normal anatomic fetuses to analyze the factors influencing parental decisions. We excluded 34 cases with an obvious anomaly or a presumably bad outcome and 12 cases that were not followed up. Forty-three couples (51.2%) continued their pregnancies while forty-one (48.8%) terminated them. Of 38 mosaicism cases, 21 (55.3%) were continued. Among the 20 pregnancies assisted by reproductive techniques, 15 (75%) were continued (P=0.02). More pregnancies were continued when genetic counseling was provided (61.9%) compared to cases in which it was not provided (19%) (P=0.01). CONCLUSION: Genetic counseling is important in providing appropriate information to parents. Establishing guidelines and protocols will help both obstetricians and parents to make informed decisions.


Subject(s)
Humans , Pregnancy , Family Characteristics , Fetus , Genetic Counseling , Mosaicism , Parents , Prenatal Diagnosis , Reproductive Techniques , Sex Chromosome Aberrations , Sex Chromosomes , Specialization
2.
Journal of Genetic Medicine ; : 101-103, 2012.
Article in English | WPRIM | ID: wpr-137160

ABSTRACT

Paracentric inversion of chromosome 18 is a rare cytogenetic abnormality. The vast majority of paracentric inversions are harmless and the offspring of paracentric inversion carriers have only slightly elevated risks for unbalanced karyotypes. However, various clinical phenotypes are seen due to breakpoint variation or recombination. We report a prenatally detected case of familial paracentric inversion of chromosome 18, inv(18)(q21.1q22), with normal clinical features.


Subject(s)
Chromosome Aberrations , Chromosomes, Human, Pair 18 , Karyotype , Phenotype , Recombination, Genetic
3.
Journal of Genetic Medicine ; : 101-103, 2012.
Article in English | WPRIM | ID: wpr-137157

ABSTRACT

Paracentric inversion of chromosome 18 is a rare cytogenetic abnormality. The vast majority of paracentric inversions are harmless and the offspring of paracentric inversion carriers have only slightly elevated risks for unbalanced karyotypes. However, various clinical phenotypes are seen due to breakpoint variation or recombination. We report a prenatally detected case of familial paracentric inversion of chromosome 18, inv(18)(q21.1q22), with normal clinical features.


Subject(s)
Chromosome Aberrations , Chromosomes, Human, Pair 18 , Karyotype , Phenotype , Recombination, Genetic
4.
Korean Journal of Obstetrics and Gynecology ; : 769-777, 2010.
Article in Korean | WPRIM | ID: wpr-28761

ABSTRACT

OBJECTIVE: Uterine compression sutures such as modified B-Lynch suture or multiple square-shaped sutures of uterine body are simple methods for control of postpartum hemorrhage refractory to medical treatment. We evaluated the treatment outcome and morbidity of uterine compression sutures and analyzed clinical findings of patients undergone uterine compression sutures and postpartum hysterectomy. METHODS: From January 2005 through December 2008, we retrospectively reviewed the medical records of patients undergone uterine compression sutures or postpartum hysterectomy. We analyzed success rates of preserving uterus of uterine compression sutures according to operative indications and mode of delivery and compared maternal characteristics, operative findings, morbidities and mortality with those of postpartum hysterectomy. RESULTS: The frequency of uterine compression sutures for control of massive postpartum hemorrhage was 0.24% (73/30,677). The success rates of preserving uterus were 85.1% in uterine atony, 80.9% in placenta previa, and 40.0% in placenta accreta (P=0.051). The rates of preserving uterus of uterine compression sutures after vaginal delivery and cesarean section were 50.0% and 82.6%, respectively (P=0.164). The frequencies of postoperative morbidities such as disseminated intravascular coagulation, pulmonary edema, ileus were not different between immediate hysterectomy and hysterectomy after uterine compression sutures. There was no maternal mortality. CONCLUSION: Uterine compression suture was successful method for control of postpartum hemorrhage resulting from uterine atony and placenta previa. We suggest the use of uterine compression sutures as the first-line operation for control of postpartum hemorrhage.


Subject(s)
Female , Humans , Pregnancy , Cesarean Section , Disseminated Intravascular Coagulation , Hysterectomy , Ileus , Maternal Mortality , Medical Records , Placenta Accreta , Placenta Previa , Postpartum Hemorrhage , Postpartum Period , Pulmonary Edema , Retrospective Studies , Sutures , Treatment Outcome , Uterine Inertia , Uterus
5.
Korean Journal of Perinatology ; : 273-281, 2010.
Article in English | WPRIM | ID: wpr-20896

ABSTRACT

OBJECTIVE: In this study, we evaluated whether different methods of conization of the cervix were associated with an increased risk of adverse pregnancy outcomes in subsequent pregnancy. METHODS: A retrospective case-control study was conducted. The study group included women who had undergone cold knife conization (n=170) or a loop electrosurgical excision procedure (LEEP) (n=86) and then had subsequent singleton pregnancies. The control group (n=497) included women with no history of cervical surgery. The outcomes were spontaneous preterm delivery and various neonatal outcomes such as low birth weight (LBW) and perinatal mortality. RESULTS: Cold knife conization was associated with a significantly increased risk of preterm delivery less than 34 weeks (relative risk 4.9, 95% confidence interval 1.6-15.1), preterm delivery less than 28 weeks (7.6, 15-39.6), LBW (2.6, 1.2-5.8), and perinatal mortality (11.9, 1.3-107.6). LEEP was not associated with a increased risk of adverse pregnancy outcomes. CONCLUSION: Cold knife cone biopsy, but not LEEP of the cervix, is associated with an increased risk of preterm delivery less than 34 weeks of gestation and adverse neonatal outcomes. Clinicians counsel women appropriately before conservative treatment of cervical intraepithelial lesions.


Subject(s)
Female , Humans , Infant, Newborn , Pregnancy , Biopsy , Case-Control Studies , Cervix Uteri , Cold Temperature , Conization , Infant, Low Birth Weight , Perinatal Mortality , Pregnancy Outcome , Premature Birth , Retrospective Studies
6.
Korean Journal of Perinatology ; : 346-353, 2009.
Article in Korean | WPRIM | ID: wpr-41822

ABSTRACT

PURPOSE: Ibuprofen is a non steroidal anti-inflammatory drug used for treating fever and pain including headache, arthralgia, and back pain. There is scarce information on the safety of ibuprofen associated with fetal anomaly when used early in pregnancy. Epidemiology studies have suggested that use of NSAIDs, including ibuprofen, during pregnancy may increase the risk of cardiac defects and gastroschisis. The aim of the study was to evaluate fetal outcomes among pregnant women who were unintentionally exposed to ibuprofen in early pregnancy. METHODS: Total 381 pregnant women who were unintentionally exposed to ibuprofen during early pregnancy were prospectively followed up. In addition, 643 age and gravity matched pregnant women not exposed to any potential teratogenic agent during pregnancy were recruited as controls. Patients were followed-up until delivery or loss to follow-up. Newborns were examined in order to identify any major congenital malformation. RESULTS: Mean age of exposed women was 31.2+/-3.4 years, with a mean number of previous pregnancies of 2.3+/-1.2 and mean gestational weeks at exposure of 4.4+/-2.2. All gestations were confirmed by ultrasonography. Of exposed women, 17 (5.6%) had spontaneous abortions, 16 were on- going pregnancies, 1 had an intra-uterine fetal death, 21 artificial abortion and 55 cases were lost to follow-up. Therefore, 271 pregnancies unintentionally exposed to ibuprofen were evaluated, each delivering a singleton baby. Three babies had congenital anomalies: one had unilateral hydronephrosis, another baby was born with a unilateral inguinal hernia. The last baby was born with unilateral kidney dysplasia with megaureter. In the control group, 6 babies were born with major malformations [1.11% vs. 1.31% (P=0.552, OR: 0.841, 95% CI: 0.2 to 3.4)]. CONCLUSION: These preliminary results suggest that the ibuprofen may not be a major human teratogen.


Subject(s)
Female , Humans , Infant, Newborn , Pregnancy , Abortion, Spontaneous , Anti-Inflammatory Agents, Non-Steroidal , Arthralgia , Back Pain , Fetal Death , Fever , Follow-Up Studies , Gastroschisis , Gravitation , Headache , Hernia, Inguinal , Hydronephrosis , Ibuprofen , Kidney , Lost to Follow-Up , Pregnancy Outcome , Pregnancy Trimester, First , Pregnant Women , Prospective Studies
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