Ten-year Clinical Study of Chorionic Villus Sampling

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.

A Case of Twin Pregnancy with One Anencephalic Dead Fetus / 대한주산의학회잡지

Twin Pregnancies are increasing these days due to recent development of the technology in treating infertility. twin pregnancies tend to cause more congenital anomalies than singleton pregnancies do. Especially when twin pregnancies are affected with one anomalous fetus combined to a normal one, the proper management and counseling are difficult. We experienced a twin pregnancy in which one anencephalic fetus was combined to a normal one, after close counseling we decided to continue the pregnancy. At 35 weeks 6 days of gestation, an anencephalic fetus was dead, so we delivered by cesarean section due to breech-cephalic presentation. The birth weight of the normal and anencephalic fetuses were 2160 gm and 600 gm, respectively. The anencephalic fetus was combined with scoliosis, absent left upper limb, and nuchal skin defect, but the healthy one showed good crying and movement and its Apgar score was 8 in 1 minute and 9 in 5 minute. Although the infant needed intensive care for 21days in the nursery room, she was finally discharged in good condition. We present this case with a brief review of the literature.

A Comparative Study of Total Lapaproscopic Hysterectomy (TLH) and Total Abdominal Hysterectomy (TAH) / 대한산부인과학회지

OBJECTIVE: To compare the clinical results between total laparoscopic Hysterectomy (TLH) and total abdominal hysterectomy (TAH). METHODS: 100 cases of TLH and 95 cases of TAH, which were performed at Pocheon CHA university from January 2001 to September 2004. We analyzed the results with regard to patient's characteristics (age, parity), uterine weight, operative time, blood loss, hospital stay and complications. RESULTS: There were no differences in terms of patient's age, parity, main operative indication and total operating time between the 2 groups. The mean uterine weight of TAH group was larger than TLH (291 +/- 239 gm for TLH, 404 +/- 174 gm for TAH, p<.05) group. The estimated blood loss was significantly lower for TLH (239.00 +/- 155.63 mL) than for TAH (333.68 +/- 228.4 mL) (p<.05). The length of hospital day was significantly shorter for TLH (6.78 +/- 1.70 day) than for TAH (7.39 +/- 1.49 day) (p<.05). Post-operative complications in the TLH group were dysuria in 2 cases, major hemorrhage requiring transfusion in 4 cases, trocar site hematoma in 1 case and bowel injury in 1 case. Post-operative complications In the TAH group were major hemorrhage requiring transfusion in 7 cases, wound infection in 3 cases and bowel injury in one case. CONCLUSION: The present study demonstrates that, given adequate training in laparoscopic surgery, TLH may replace TAH in most patients who require a hysterectomy, showing clear advantages of shorter hospitalization and the acceptable complication rate.

A Case of Recurrent Hydroamnios in association with Congenital Myotonic Dystrophy / 대한주산의학회잡지

Congenital myotonic dystrophy is an autosomal dominantly inherited myotonic dystrophy, rare form, with an incidence estimated to be 13/100,000 liveborns. Affected newborns can present with intrauterine growth retardation, prematurity, birth asphyxia, respiratory distress, and always exhibit generalized muscular hypotonia. Feeding problems are common and an association with protein losing enteropathy, hydrops fetalis, and persistent pulmonary hypertension of the newborn has been described. Twenty-five percent of the affected infants die within the first 18 months of life. The molecular basis is an unstable DNA fragment consisting of a variable expansion of a CTG triplet, Dystrophia myotonica-protein kinase (DMPK) which is localized on chromosome 19q 13.3. The severity of the disease is directly correlated to the length of the CTG sequence. Women with idiopathic polyhydroamnios, decreased fetal movement, prematurity, hypotonia, should be counselled family, and mother, father and baby should be evaluated congenital myotonic dystrophy, as PCR (polymerase chain reaction). It is possible to diagnose congenital myotonic dystrophy, by PCR, antenatal test, such as CVS, amniocentensis. We experienced a case of recurrent congenital myotonic dystrophy, with neonatal death, twice, and report with a review of related literatures.

A Case of Desmoid Tumor of Rectus Abdominis Muscle Associated with pregnancy / 대한산부인과학회잡지

Abdominal desmoid tumor is a very rare neoplasm and arises from musculoaponeurotic structures. Approximately 80% of cases occur in woman, usually between the ages of 20 and 40 years, but they have been described in both men and women of all ages. Typically, abdominal desmoid tumor occurs most commonly in the rectus abdominis muscle and in young, gravid, or parous women during gestation or, more frequently, during first year following childbirth. The rates of recurrence following local excision of desmoid tumors have been reported to be about 24%, but metastases do not occur. We experienced one case of desmoid tumor of the rectus abdominis muscle in a 28-year old woman with pregnancy and so present it with brief review of literatures.

A Case of Prenatal Diagnosed Polycystic Kidney / 대한주산의학회잡지

The infantile polycystic kidney disease is rare urinary tract anomaly.It is inherited with an autosomal recessive pattern and recurrence rate is about 25%. The gene locus is on chromosome 6p. The pathogenesis of infantile polycystic kidney is the primary defect of the collecting ducts. The ultrasonographic findings of infantile polycystic kidney are oligohydroamnios, bilaterally symmetrical enlarged kidneys with maintenance of their reinform shape. The differential diagnosis with adult polycystic kidney disease and the examination of the parents and other members of the family is helpful to confirm the adult polycystic kidney disease. If there is severe renal involvements, stillbirth or neonatal death secondary to pulmonary hypoplasia will be developed. If it is diagnosed before viability, termination of pregnancy would be recommended. In a fetus diagnosed after viability, pregnancy termmination is also recommended since this condition is uniformly fatal. We present a case of infantile polycystic kidney.