Dong Gyu Jang

Antenatal sonographic features of ileal atresia

Aim:  The purpose of this study was to determine the antenatal sonographic features of ileal atresia.

Prenatal diagnosis of autosomal recessive polycystic kidney disease by molecular genetic analysis

A 27‐year‐old primigravida was referred for evaluation of severe oligohydramnios at 22 weeks of gestation. For a more accurate diagnosis and detection of other fetal anomalies, complementary fetal magnetic resonance imaging (MRI) was performed. Findings of fetal MRI evaluation were consistent with autosomal recessive polycystic kidney disease (ARPKD). Parental mutation analysis in the PKHD1 gene was performed. By PKHD1 mutation analysis, we were able to identify a heterozygous missense mutation in exon 20 (K626R) in the father. Molecular genetic analysis can be helpful for an early and reliable prenatal diagnosis of ARPKD. Herein, we present a case of ARPKD that was diagnosed at 22 weeks of gestation by ultrasonographic examination and MRI and verified by PKHD1 mutation analysis and array‐based genetic deletion analysis.

Prenatal sonographic findings associated with fibroepithelial stromal polyp of the vulva

Fibroepithelial stromal polyps (FSPs) of the vulvovagina are relatively common in women of reproductive age (Norris and Taylor, 1966; Nucci et al., 2000), and rarely found in newborns and infants. FSPs present more commonly in the vagina, but also occur in the vulva (Bozgeyik et al., 2007), and rarely in the cervix (Nucci et al., 2000). They are benign, round or polypoid masses characterized by a polypoid proliferation of the stroma with overlying squamous epithelium. FSPs in newborns are extremely rare, and only five cases diagnosed in infancy have been documented, including one vulvar and four vaginal cases (Norris and Taylor, 1966; Pul et al., 1990; Jallouli et al., 2008; Wani and Fujioka, 2009). All of these cases were diagnosed after birth, and prenatal diagnosis using sonography has not been reported. A PubMed search use of various combinations of ‘fibroepithelial polyp’, ‘vulva’, ‘vagina’, ‘congenital’ and ‘prenatal’ returned no results. In this report, we present a case of congenital vulvar FSP occurring in conjunction with uterine duplication and kidney anomalies. This is the first case to be diagnosed during a prenatal sonographic examination. In addition, possible development of urogenital anomalies associated with congenital FSP was newly identified. A 42-year-old gravida 1 para 1 was transferred to our institution for evaluation of abnormal sonographic findings in fetal genitalia at 23 weeks 2 days of gestation. Two-dimensional (2D) transvaginal sonography revealed a swollen female genitalia with a slightly echogenic lesion and a single umbilical artery. A three-dimensional (3D) ultrasound scan was performed with an ACCUVIX-XQ (Medison Co., Seoul, Korea) equipped with a 3 to 7 MHz transabdominal transducer. Scanning revealed a 1.7 × 1.0 cm vesicular or polypoid mass involving the left vulva (Figure 1). With a differential diagnosis of genital ambiguity, we determined the levels of 17-hydroxyprogesterone and 11-dehydroepiandrosterone in amniotic fluid and the

Congenital Chloride Diarrhea

A 28-year-old primigravida woman had marked polyhydramnios and multiple dilated bowel loops were seen in the fetal abdomen on prenatal ultrasound, we suspected the ileal atresia. After birth by preterm premature rupture of the membrane at 33 weeks, imaging studies showed dilated bowels without evidence of intestinal obstruction or intestinal atresia. The neonate had watery diarrhea like urine and measurement of ionic content of the stool led to the diagnosis of congenital chloride diarrhea (CCD). The neonate was placed on sodium and potassium chloride supplements, and his condition was improved. CCD is a rare, inherited condition caused by an abnormality of intestinal electrolyte transport. This case illustrates that it may present prenatally with a picture similar to that seen with intestinal obstruction including ileal atresia.

Clinical Efficacy of Cervical Length and Volume for Prediction of Labor Onset in VBAC Candidates

Background: The purpose of this research is to discover whether measurement of cervical length and cervical volume at term is helpful in predicting the onset of labor in VBAC candidates. Methods: Transvaginal sonographic evaluations of the cervixes of pregnant women who desired to undergo VBAC were performed between 36 - 40 weeks gestation. Clinical information such as labor onset time, gestational age at delivery and delivery mode was gathered from medical records. Results: A total of 514 pregnant women participated in this study. Cervical length was significantly longer in the group that delivered 7 days or more after measurement than in the group that delivered within 7 days of measurement (43±0.77 cm vs. 2.99±0.72 cm, p< 0.001). Cervical volume was significantly larger in the group that delivered at and after 7 days than in the group that delivered within 7 days (29.21±11.62 cm3 vs. 34.07±13.41 cm3, p=0.014). The cervical length ROC curve was significantly more predictive than the cervical volume ROC curve (AUC: 0.711 vs 0.594, p= 0.001). There were no significant differences between the combined cervical length/volume ROC curve and the cervical length ROC curve alone (p= 0.565). The AUC of the cervical length ROC curve to predict postterm pregnancy was 0.729. Conclusion: Measuring cervical length is helpful in predicting the onset of spontaneous labor within 7 days and posterm delivery in VBAC candidates.

Optimal gestational age of delivery to decrease neonatal morbidity in preterm pregnancies in Korea

Aims:  Preterm birth is the most common cause of neonatal morbidity and mortality. Neonatal morbidity and mortality are known to decrease significantly after 34 weeks in preterm births following preterm labor, and after 32 weeks in preterm births following preterm rupture of the membranes. However, these outcomes may not apply to Korean preterm neonates. This study analyzed the morbidity of preterm neonates based on gestational age to determine the optimal gestational age of delivery following preterm labor.

Prevalence of Low Bone Mineral Density and Associated Risk Factors in Korean Puerperal Women

Although pregnancy is a medical condition that contributes to bone loss, little information is available regarding bone mineral density (BMD) in puerperal women. This cross sectional study aimed to evaluate the prevalence of low BMD in puerperal women and to identify associated risk factors. We surveyed all puerperal women who had BMD measurements taken 4–6 weeks after delivery in a tertiary university hospital, and did not have any bone loss-related comorbidities. Among the 1,561 Korean puerperal women, 566 (36.3%) had low BMD at the lumbar spine, total hip, femoral neck, and/or trochanter. Multivariate analysis revealed that underweight women had a significantly higher risk of low BMD compared with obese women at pre-pregnancy (adjusted odds ratio [aOR], 3.21; 95% confidence interval [CI], 1.83–5.63). Also, women with inadequate gestational weight gain (GWG) were 1.4 times more likely to have low BMD than women with excessive GWG (aOR, 1.42; 95% CI, 1.04–1.94). One-way ANOVA showed that BMDs at the lumbar spine and total hip were significantly different between the 4 BMI groups (both P < 0.001) and also between the 3 GWG groups (both P < 0.001). In conclusion, this study identifies a high prevalence of low BMD in puerperal women and thus suggests the need for further evaluation about the change of BMD in pregnancy and postpartum period.

Antenatal sonographic features of intestinal neuronal dysplasia type A associated with polydactyly and micromelia

Type A intestinal neuronal dysplasia is a congenital abnormality that is a very rare disease. Here, we report on a patient who had intestinal dilatation with serial changes and polydactyly, as shown on prenatal ultrasound. Bowel obstruction symptoms were shown at 16 days of life. An open abdominal surgery was performed. Malrotation of the bowel and narrowing of the area from 15 cm above the ileocecal valve were noted. Therefore, a right hemicolectomy, including lesions was performed. The patient was diagnosed with type A intestinal neuronal dysplasia by pathology.

P28.03: A case of congenital lymphangiomatosis of the right lower limb

Lymphangiomatosis is a condition of lymphatic tissue malformation with multiple or diffuse involvement of soft tissues, visceral organs. Congenital abnormalities of the lymphatic system are very rare, and reports of congenital lymphangiomatosis are even fewer. We experienced a case of congenital lymphangiomatosis detected as edema of the right limb by prenatal ultrasonography and then diagnosed by magnetic resonance imaging.

P33.19: The prenatal sonographic features of ilojejunal atresia

Introduction: Gastroschisis is a defect in the abdominal wall, typically situated on the right side of a normally inserted umbilical cord, through which bowel and other abdominal contents herniate. Its prevalence is still increasing worldwide for unknown reason. Usually, gastroschisis occurs in isolation, but other organ defects, especially intestinal malrotation, should always be ruled out. Material and methods: We report an interesting case of gastroschisis complicated with bladder herniation, with a well documented iconography, and a meticulous follow-up since its diagnosis in the first trimester and throughout the pregnancy. Results: Secondary bladder exteriorization is rarely reported in gastroschisis. The occurrence of secondary complications due to bladder herniation may alter the management strategy and influence the mode and date of extraction. Typically, bladder herniation occurs in the third trimester, mostly in female fetuses. Conclusion: There is no consensus, up till now, on the ideal time and mode of delivery, close follow up should be installed in fetuses with gastroschisis and bladder herniation as this may be another contributing factor to fetal distress and secondary complications.