The Usefulness of Fetal MRI for Prenatal Diagnosis

PURPOSE: Fast MRI has provided detailed and reproducible fetal anatomy. This study was performed to evaluate the usefulness of fetal MRI for prenatal diagnosis. MATERIALS AND METHODS: Fifty-six fetuses with congenital abnormalities on ultrasonography were evaluated by fetal MRI from 2001 to 2004 in Severance Hospital. Final diagnosis was made by postnatal pathology, postnatal MRI, and other modalities (such as ultrasound, retrograde pyelogram). A 1.5-Tesla superconductive MR imaging unit was used to obtain half-Fourier acquisition single-shot turbo spin images. RESULTS: Of the 56 fetuses, intracranial abnormalities were found in 26 fetuses, intraabdominal abnormalities in 17 fetuses, intrathoracic in 6 fetuses, head and neck in 5 fetuses, and other sites in 2 fetuses. There were six cases in which the diagnoses of fetal MRI and ultrasonography differed. In such cases, fetal MRI provided more exact diagnosis than ultrasonography (5 vs. 0). Three fetuses with intracranial abnormalities on ultrasonography were diagnosed as normal by fetal MRI and in postnatal diagnosis. CONCLUSION: Although ultrasonography is known as a screening modality of choice in the evaluation of fetus because of the cost-effectiveness and safety, the sonographic findings are occasionally inconclusive or insufficient for choosing the proper management. Thus, in this study, we suggest that fetal MRI is more useful than ultrasonography for the evaluation of intracranial abnormalities in some instances. For prenatal counseling and postnatal treatment planning, fetal MRI can be informative when prenatal ultrasonography is inadequate and doubtful.

Clinical Experiences of Fetal Ovarian Cyst: Diagnosis and Consequence

Ovarian cysts are the most frequent, prenatally diagnosed intra-abdominal cysts. Fetal ovarian cyst often presents complication such as torsion and seems to be an indication for surgical intervention. In this study, we reviewed pre- and post-natal medical records and ultrasonography of 17 fetuses that were diagnosed with ovarian cysts. In a total of 17 cases, postnatal surgery was performed in 7 infants. Of these cases, four cases of ovarian cyst torsion were confirmed. In the remaining 10 fetuses, one case regressed completely during pregnancy, and the other nine cases including two complex cysts resolve spontaneously after birth. Postnatal symptomatic cysts or cysts with a diameter greater than 5 cm that do not regress or enlarge should be treated, but uncomplicated asymptomatic cysts less than 5 cm in diameter should only be observed and reassessed by serial ultrasonography. If they regress spon-taneously, no surgical intervention is necessary independent of their sonographic findings.

Neonatal Outcome after Preterm Delivery in HELLP Syndrome

The present study compares neonatal outcome after preterm delivery of infants in pregnancies complicated by the HELLP syndrome or severe preeclampsia (PS). The maternal and neonatal charts of 71 out of a total of 409 pregnancies that were complicated by hypertensive disorders at Severance hospital between January 1995 and December 2004 were reviewed. Twenty-one pregnancies were complicated by HELLP syndrome and 50 pregnancies were complicated by PS. Fifty normotensive (NT) patients who delivered because of preterm labor comprised the control group. Results were analyzed by the chi-square test and ANOVA. Gestational age and maternal age at delivery were matched among the three groups. The neonatal outcomes of the HELLP syndrome group were compared with the PS and NT groups. There were significant differences between the HELLP syndrome group and the PS group in the incidence of intraventricular hemorrhage (IVH) (61.9% vs. 26%, p=0.006), sepsis (85.7% vs. 44%, p =0.003) and mechanical ventilation (MV) rate (81% vs. 54%, p=0.039). There were significant differences between the HELLP syndrome group and the NT group in the incidence of neonatal death (ND) (19.5% vs. 2.0%, p=0.034), respiratory distress syndrome (RDS) (38.1% vs. 8%, p=0.0045), IVH (61.9% vs. 4%, p < 0.0001), sepsis (85.7% vs. 14%, p < 0.0001), intensive care (IC) (85.7% vs. 24%, p < 0.0001) and MV rate (80.1% vs. 14%, p < 0.0001). There were also significant differences between the PS and NT groups in the incidence of ND (20% vs. 2%, p=0.0192), RDS (30% vs. 8%, p=0.0085), IVH (26% vs. 4%, p=0.0070), sepsis (44% vs. 14%, p=0.0015), IC (78% vs. 24%, p < 0.0001), MV rate (54% vs. 14%, p < 0.0001) and low 5-min APGAR score (50% vs. 16%, p=0.0005). This study shows increased morbidity in newborns of mothers complicated with HELLP syndrome and indicates that early, regular and high quality management of these patients is essential to improve both maternal and neonatal outcome.

The Usefulness of Fluorescence in Situ Hybridization(FISH) in the Diagnosis of Prader-Willi Syndrome

PURPOSE: To detect microdeletion of 15q11-13 region, high resolution cytogenetic analysis or FISH with probe at Prader-Willi syndrome region can be used. We tried to evaluate whether FISH with SNRPN is a more effective method than G-banding microscope in the diagnosis of Prader-Willi syndrome. MEHTODS: Peripheral blood sampling was done on five patients who we suspected of Prader-Willi syndrome clinically and lymphocytes from peripheral blood sampling were cultured. G-banding microscope was used to detect the microdeletion in chromosome 15 and FISH with SNRPN probe was used to detect signal defect in band q11-q13 in chromosome 15. RESULTS: There was a fluorescent signal defect in band 15 q11-q13 in one of chromosome 15 in 4 children with FISH method and only one patient was diagnosed with Prader-Willi syndrome with G-banding microscope. CONCLUSION: FISH analysis is more accurate, objective, and time saving than G-banding microscope, therefore it can be considered as a more adequate screening test for the diagnosis of Prader-Willi syndrome.

The Korean collaborative study on 11,000 prenatal genetic amniocentesis

Since amniocentesis made prenatal diagnosis feasible in 1967, the method has been remarkably instrumental in obstetrical practice. A recent study conducted between 1980 and 1997 collected 11,000 amniocentesis procedures done at 10 university hospitals and tertiary centers in Korea. The study indicated that the use of amniocentesis on patients has increased steadily since 1980; however, the number has increased sharply for patients in the mid 1990's. In the 1980's, amniocentesis had been used primarily for patients in advanced maternal age groups (at least 35 years or older). In 1995, amniocentesis had been implemented for the detection of abnormal serum markers (37.6%), and by 1997, amniocentesis was involved in such diagnosis even more frequently (44.8%). Of the total number of uses, 270 (2.5%) involved the detection of chromosomal anomaly. In autosomal disorders, 96 Down syndrome, 33 Edward syndrome, and 6 Patau syndrome were diagnosed. In sex chromosomal anomaly, 10 Turner syndrome, and 10 Klinefelter syndrome were diagnosed. Added to that, 83 translocations, and 15 mosaicisms were diagnosed. Of the 322 cases with abnormal ultrasonographic findings, 21 (6.5%) resulted in chromosomal anomaly. The use of genetic amniocentesis as a prenatal diagnostic test for Korean women has risen 10-fold between 1988 and 1998. As stated earlier, amniocentesis had earlier been used primarily for those in advanced maternal age groups. Today, maternal serum markers and highly sensitive ultrasonic technology can detect many fetal anomalies which eventually necessitate amniocentesis.

Recurrent Anencephaly in A Same Pregnant Women: Report of Two Cases / 대한산부인과학회잡지

The etiology of neural tube defects, a category encompassing spina bifida, anencephaly and encephalocele, remains highly controversial and unclear, However, there is overwhelming evidence supporting a multifactorial etiology for this group of defects. Recent studies have shown that folic acid supplements taken periconceptionally can reduce a woman's risk of having a child with a neural tube defect. Qenetic screening could identify women who will require folic acid supplements periconceptionally to reduce their risk of having a child with a neural tube defects. Recently, we encountered two cases of recurrent anencephaly that had occurted in a same pregnant woman in our hospital. We report these two cases with brief review of the literatures.