Nuchal translucency is an important indicator of an aneuploid fetus in prenatal diagnostics. Previously, only the presence of aneuploid could be confirmed by conventional karyotyping of fetuses with thick nuchal translucency. With the development of genetic diagnostic techniques, however, it has been reported that subtle variations not detectable by conventional karyotyping might occur in cases of pathologic clinical syndrome in euploid fetuses. One of the newer, high-resolution genetic methods in the prenatal setting is chromosomal microarray. The possible association between nuchal translucency thickness with normal karyotype and submicroscopic chromosomal abnormalities detectable by microarray has been studied. How and when to apply microarray in clinical practice, however, is still debated. This article reviews the current studies on the clinical application of microarray in cases of increased nuchal translucency with normal karyotype for prenatal diagnosis.
Aneuploidy ; Chromosome Aberrations ; Comparative Genomic Hybridization ; Fetus* ; Karyotype ; Karyotyping ; Microarray Analysis* ; Nuchal Translucency Measurement* ; Prenatal Diagnosis

OBJECTIVE: To evaluate the association of maternal age with occurrence of fetal chromosomal abnormalities in Korean pregnant women of advanced maternal age (AMA). METHODS: A retrospective review of the amniocentesis or chorionic villous sampling (CVS) database at Gangnam and Bundang CHA Medical Centers, between January 2001 and February 2012, was conducted. This study analyzed the incidence of fetal chromosomal abnormalities according to maternal age and the correlation between maternal age and fetal chromosomal abnormalities in Korean pregnant women > or =35 years of age. In addition, we compared the prevalence of fetal chromosomal abnormalities between women of AMA only and the others as the indication for amniocentesis or CVS. RESULTS: A total of 15,381 pregnant women were selected for this study. The incidence of aneuploidies increased exponentially with maternal age (P<0.0001). In particular, the risk of trisomy 21 (standard error [SE], 0.0378; odds ratio, 1.177; P<0.001) and trisomy 18 (SE, 0.0583; odds ratio, 1.182; P=0.0040) showed significant correlation with maternal age. Comparison between women of AMA only and the others as the indication for amniocentesis or CVS showed a significantly lower rate of fetal chromosomal abnormalities only in the AMA group, compared with the others (P<0.0001). CONCLUSION: This study demonstrates that AMA is no longer used as a threshold for determination of who is offered prenatal diagnosis, but is a common risk factor for fetal chromosomal abnormalities.
Amniocentesis ; Aneuploidy ; Chorion ; Chromosome Aberrations ; Down Syndrome ; Female ; Humans ; Incidence ; Maternal Age ; Odds Ratio ; Pregnant Women ; Prenatal Diagnosis ; Prevalence ; Retrospective Studies ; Risk Factors ; Trisomy

PURPOSE: We evaluated indications for chorionic villus sampling (CVS), the positive predictive value of CVS for fetal chromosomal abnormalities, and the fetal loss rate after CVS at CHA Medical Center. MATERIALS AND METHODS: We reviewed the medical records of 511 cases of CVS performed between 67 and 120 days of gestation for prenatal cytogenetic diagnosis from April 2000 to April 2010. Fetal karyotypes were obtained by direct and indirect culture methods. RESULTS: The most common indications for CVS were abnormal ultrasonic findings including increased nuchal translucency (294/635, 46.3%). The positive predictive value of abnormal karyotyping according to indication for CVS was highest in cases with abnormal parental karyotypes (14/21, 66.7%). Mosaicism revealed by CVS comprised 3.1% of the sample (16/509). Amniocentesis revealed two cases of true mosaicism and 11 cases of confined placental mosaicism. The fetal loss rate within 4 weeks of the procedure was 1.2% (6/511). CONCLUSION: If CVS is performed by an expert clinician, it is a feasible and reliable procedure for prenatal genetic diagnosis. When CVS indicates mosaicism, the finding should be confirmed by amniocentesis to distinguish true mosaicism from confined placental mosaicism.
Amniocentesis ; Chorion ; Chorionic Villi ; Chorionic Villi Sampling ; Chromosome Aberrations ; Cytogenetics ; Female ; Humans ; Karyotype ; Karyotyping ; Medical Records ; Mosaicism ; Nuchal Translucency Measurement ; Parents ; Pregnancy ; Ultrasonics

OBJECTIVE: Many studies have demonstrated that hydrosalpinx has a detrimental effect on the outcome of IVF. Treating hydrosalpinges prior to the IVF procedure in women with hydrosalpinges is thought to improve the likelihood of successful IVF outcome. Vaginal ultrasound-guided aspiration of hydrosalpinx fluid (HSF) with injection of the sclerosing agent in situ might be simpler than invasive procedures like salpingectomy. Therefore, we carried out a retrospective study on the effects of ultrasound-guided HSF aspiration and injection of the sclerosing agent of ultrasonically diagnosed hydrosalpinx on IVF outcome. METHODS: In our retrospective study, 97 tubal factor infertile female patients that underwent IVF treatment between January 2005 and December 2012 at the Reproductive Medicine Center of CHA Hospital were divided into two study groups. Fifty-six patients underwent interventional ultrasound sclerotherapy (group 1), and the remaining 41 patients received laparoscopic salpingectomy (group 2) before IVF. We compared the IVF outcomes of the two groups. RESULTS: The results showed that ultrasound-guided HSF aspiration and sclerotherapy have IVF outcomes comparable to laparoscopic salpingectomy. CONCLUSION: Interventional ultrasound guided sclerotherapy before IVF is an effective and less invasive prophylactic intervention alternative to salpingectomy with hydrosalpinx.
Female ; Humans ; Reproductive Medicine ; Retrospective Studies ; Salpingectomy ; Sclerotherapy ; Ultrasonography, Interventional

Vitiligo is an autoimmune disease in which CD8+ T-cells target and destroy melanocytes, leaving areas of skin without pigment production. Nonsegmental vitiligo, the classical form of the disease, results in symmetrical, bilateral white patches. Vitiligo is a chronic, unpredictable disease, characterized by flares, with depigmentation and periods of disease arrest alternating. This process can be stressful and negatively impact one’s quality of life. Various hypotheses have been offered, including cellular stress causing degeneration of melanocytes, chemical toxicity causing melanocyte death, and neural changes that influence melanocytes or their ability to produce melanin. Recently, the interaction between oxidative stress and autoimmune-mediated melanocyte loss has been proposed as the primary pathogenesis of vitiligo. It is now well accepted that interferon-γ and/or C-X-C motif chemokine ligand 10 axis is functionally required for both progression and maintenance of vitiligo, making this pathway a potential therapeutic target. Most therapeutic interventions in the management of vitiligo have been developed based on this immunopathogenesis. This article aims to review the current understanding of the vitiligo pathogenesis.

Vitiligo is an autoimmune disease in which CD8+ T-cells target and destroy melanocytes, leaving areas of skin without pigment production. Nonsegmental vitiligo, the classical form of the disease, results in symmetrical, bilateral white patches. Vitiligo is a chronic, unpredictable disease, characterized by flares, with depigmentation and periods of disease arrest alternating. This process can be stressful and negatively impact one’s quality of life. Various hypotheses have been offered, including cellular stress causing degeneration of melanocytes, chemical toxicity causing melanocyte death, and neural changes that influence melanocytes or their ability to produce melanin. Recently, the interaction between oxidative stress and autoimmune-mediated melanocyte loss has been proposed as the primary pathogenesis of vitiligo. It is now well accepted that interferon-γ and/or C-X-C motif chemokine ligand 10 axis is functionally required for both progression and maintenance of vitiligo, making this pathway a potential therapeutic target. Most therapeutic interventions in the management of vitiligo have been developed based on this immunopathogenesis. This article aims to review the current understanding of the vitiligo pathogenesis.

No abstract available.
Ectodermal Dysplasia 1, Anhidrotic* ; Humans

No abstract available.
Child, Preschool* ; Erythema Nodosum* ; Erythema* ; Granuloma Annulare* ; Granuloma* ; Humans ; Lower Extremity* ; Male*

This article reports a case of spontaneous ovarian hyperstimulation syndrome (OHSS) following a thawed embryo transfer cycle. OHSS, a potentially life-threatening condition, is an iatrogenic complication of controlled ovarian stimulation; therefore, it is very important to prevent and treat OHSS during treatment with ovulation-inducing agents. Despite our efforts to prevent OHSS, in this case, severe spontaneous OHSS occurred, which resulted in uncontrolled preterm labor and a preterm delivery and also persisted for 6 weeks after delivery. Freezing all embryos cannot entirely prevent the development of OHSS because OHSS can occur spontaneously. Although spontaneous OHSS remains a rare event, females with a history of OHSS may have an elevated risk for spontaneous OHSS. We suggest closely monitoring cases of pregnancy following thawed embryo transfer for early diagnosis of spontaneous OHSS and the use of conservative management.
Cryopreservation ; Early Diagnosis ; Embryo Transfer* ; Embryonic Structures ; Female ; Fertilization in Vitro ; Freezing ; Humans ; Obstetric Labor, Premature ; Ovarian Hyperstimulation Syndrome* ; Ovulation Induction ; Pregnancy