Pei Yin Tsai

Prenatal diagnosis of pentalogy of Cantrell using three-dimensional ultrasound

In 1958, Cantrell et al [1] described a syndrome called the pentalogy of Cantrell (POC), consisting of deficiency of the anterior diaphragm, midline supraumbilical abdominal wall defect, defect in the diaphragmatic pericardium, congenital intracardiac abnormalities, and defect of the lower sternum. Although prenatal detection of POC has been reported previously, to date no prenatal illustration of POC by threedimensional (3D) ultrasound (US) has been described [2]. The application of 3D US in malformations, especially in the evaluation of small parts, appears to assist in prenatal diagnosis and to be clinically useful. The multiplanar planes proved most helpful in delineating the exact nature and anatomic level of the defect [3]. Here, we reported two cases of POC with different presentation diagnosed using two dimensional (2D) and three dimensional (3D) ultrasound (US). Case 1: A 19-year-old woman, gravida 1, para 0, was transferred to our hospital because of fetal congenital anomaly at 15 weeks of gestation. US revealed a crownerump length of 87.3 mm and the fetal heart outside the thorax by Doppler US. Omphalocele and marked spinal curvature were also observed (Fig. 1). After discussion with the patient and family, they decided on termination of the pregnancy. The thoracoabdominal ectopia cordis, left cleft sternum and abdominal wall defect, omphalocele, scoliosis, umbilical cord cyst, and polydactyly of the left hand were grossly observed in the arbutus (Fig. 2). The histopathologic examination at autopsy demonstrated the previously mentioned findings and left diaphragm deficiency with internal organs exposure. Microscopically, the internal organs were well developed. Moreover, the abortus revealed normal female karyotype. Case 2: A 32-year-old woman, gravida 1, para 0, was also transferred to our hospital for fetal abdominal wall defect at 13

Thanatophoric dysplasia: Role of 3‐dimensional sonography

Fetal thanatophoric dysplasia (TD) is a lethal skeletal dysplasia. Therefore, antenatal diagnosis of TD is mandatory in routine obstetrical care. However, because TD is relatively rare, prenatal detection is not an easy task. In the past, 2‐dimensional (2D) sonography had been applied as the mainstay of prenatal diagnosis of TD. In this series, we report our work of detecting TD using 3‐dimensional (3D) sonography.

A new automatic algorithm to extract craniofacial measurements from fetal three‐dimensional volumes

Three‐dimensional (3D) ultrasound is useful in the prenatal evaluation of fetal craniofacial structures, particularly as it provides a multiplanar view. However, an expert must designate the area of interest and the appropriate view, making measurement of fetal structures using 3D ultrasound both time‐consuming and subjective. In this study we propose an image analysis system that measures automatically and precisely the fetal craniofacial structures and evaluate its performance in the second trimester of pregnancy using a new 3D volume analysis algorithm.

Soft tissue volume of upper arm in predicting small-for-gestational-age fetuses using three-dimensional ultrasound

To assess the value of fetal soft tissue volume (STV) of the upper arm in predicting small‐for‐gestational‐age (SGA) fetuses using three‐dimensional (3D) ultrasound (US).

Three-dimensional ultrasound in the prenatal diagnosis of osteogenesis imperfecta

OBJECTIVE Fetal osteogenesis imperfecta (OI) is a heterogeneous group of collagen disorders characterized by bone fragility, blue sclerae, deafness, and dentinogenesis imperfecta. Ultrasonography is acknowledged as a reliable diagnostic modality for the prenatal diagnosis of OI, especially type II. In the past, two-dimensional (2D) ultrasound (US) has been applied as the mainstay of prenatal diagnosis of OI. In this series, we report our work of detecting OI using three-dimensional (3D) US. MATERIAL AND METHODS We reviewed our computer database of prenatal diagnosis of OI at the National Cheng Kung University Hospital from April 1996 to July 2010. All the cases were scanned by 2D and 3D US. In total, six cases of fetal OI were diagnosed. RESULTS Compared with 2D US, 3D US can detect fetal OI precisely, and provide additional vivid illustration after various modes of reconstruction that 2D US cannot. CONCLUSION In conclusion, 3D US may contribute significantly to the detection of OI in utero and provide a novel visual depiction of this defect after reconstruction. The technique may thus substantially assist in prenatal diagnosis as well as consultations for fetal OI.

Prenatal diagnosis of fetal congenital cystic adenomatoid malformation of the lung using three-dimensional ultrasound: Comparison between the 20th and 21st centuries

OBJECTIVE Congenital cystic adenomatoid malformation of the lung (CCAML) is one of the most common lung lesions diagnosed prenatally. In order to compare the trends and improvements of prenatal diagnosis of CCAML, we herein retrospectively reviewed our cases of fetal CCAML detected by three-dimensional ultrasound (3-D US) between two centuries. MATERIALS AND METHODS We reviewed our computer database of prenatal diagnosis of CCAML in National Cheng Kung University Hospital from October 1994 to November 2011. All of the fetuses were initially scanned by two-dimensional (2-D) US to locate the region-of-interest (ROI). Then, the 3-D probe was used to scan all of the ROI systematically and mechanically, and the images were stored in the laser discs for further 3-D visualization and reconstruction. To compare the characteristics at prenatal diagnosis of CCAML between the 20th and 21st centuries in our hospital, Chi-square tests were undertaken. A p value <0.05 was considered as statistically significant. RESULTS In total, 58 fetuses with CCAML were depicted by 3-D US in utero (12 cases were diagnosed in the 20th century and 46 cases in the 21st century). The ranges of gestational age at prenatal diagnosis of CCAML by 3-D US in the 20th century were between 15 and 36 weeks (mean=24 weeks), and were between 16 and 31 weeks (mean=22 weeks) in the 21st century. Moreover, nine cases (75%) were diagnosed at the second trimester in the 20th century, whereas 44 cases (96%) were diagnosed at the second trimester in the 21st century. CONCLUSION The advancement of 3-D US has remarkable advantages in adding novel visual depiction of a 3-D lesion of a 3-D fetus in 3-D US after reconstruction, and thus assists substantially in the prenatal diagnosis and genetic consultation of CCAML. Furthermore, the trend analysis in this series showed a significantly earlier gestational age at prenatal diagnosis of CCAML in the 21st century than that in the 20th century.

Ring Chromosome 7 Presenting with Intrauterine Growth Restriction and Multiple Anomalies

Summary Objective Ring chromosome 7 is a very rare chromosomal anomaly that may have a grave prognosis. Nevertheless, the clinical features associated with ring chromosome 7 are highly variable. Here, we report a case with ring chromosome 7 and the perinatal findings. Case Report A 32-year-old, gravida 1, para 0, woman was referred to our hospital because of intrauterine growth restriction (IUGR) and oligohydramnios at 35 weeks of gestation. Prenatal ultrasound revealed a severe IUGR fetus presenting with multicystic kidney, hydronephrosis and oligohydramnios. At parturition, the birth weight of this male infant was 1,720 g, and a battery of anomalies were also noted, including imperforate anus, hypospadia, micropenis, right cryptorchidism, severe IUGR, multiple nevi on the forehead, shoulder and left thigh, brain atrophy, right multicystic kidney, and left mild hydronephrosis. Cytogenetic study from cord blood revealed a ring chromosome 7. Conclusion Ring chromosome 7 is extremely rare and our case might be the 15 th and youngest case in the medical literature. Our case had multicystic kidney and imperforate anus, which have not been reported previously. Prenatal diagnosis of ring chromosome 7 is very difficult. When fetuses present with severe IUGR, oligohydramnios and multicystic kidney, chromosomal aberrations should be kept in mind, and perinatal cytogenetic workup is warranted.

Differential miR-346 and miR-582-3p expression in association with selected maternal and fetal complications

Several miRNAs are expressed in human gestational tissue, and some have been shown to be associated with placental dysfunction and complicated pregnancy outcomes. To investigate the roles of miR-346 and miR-582-3p in adverse obstetric events, we analyzed these 2 miRNAs in three samples (maternal blood, umbilical cord blood and placenta) obtained from pregnant women in four groups, including healthy control (n = 60), preeclampsia (n = 31), preterm delivery (n = 29) and small for gestational age (n = 19) patients. The expression levels of miR-346 and miR-582-3p in all included adverse obstetric outcome groups were significantly higher in the maternal plasma samples but lower in the placenta samples (all p value < 0.05). In addition, the miR-346 expression levels in fetal cord blood were also significantly lower in all of the included adverse obstetric outcome groups (all p < 0.05). Multivariate analysis of the three specimens after adjusting for maternal age and gestational age at delivery gave the same results. In conclusion, aberrant miR-346 and miR-582-3p expression level in pregnancy was associated with multiple maternal and fetal complications. Their differential expression in maternal blood, umbilical cord blood and placenta could be potential biomarkers or therapeutic targets for adverse obstetric outcomes

Prenatal diagnosis of fetal gastroschisis using three-dimensional ultrasound: comparison between the 20th and 21st centuries.

OBJECTIVE In order to compare the trends and improvements of prenatal diagnosis of gastroschisis, we herein retrospectively reviewed our cases of fetal gastroschisis detected by three-dimensional ultrasound (3D US) between the two centuries. MATERIALS AND METHODS We reviewed our computer database of prenatal diagnosis on gastroschisis in National Cheng Kung University Hospital from October 1994 to November 2011. All the fetuses were initially scanned by two-dimensional (2D) US to locate the region of interest (ROI). Then, the 3D probe was used to scan all the ROI systematically and mechanically, and all the images were stored on laser discs for further 3D visualization and reconstruction. To compare the characteristics at prenatal diagnosis of gastroschisis between the 20th and 21st centuries in our hospital, the Chi-square test and Student t test were used. The p values less than 0.05 and 0.1 were considered statistically significant. RESULTS In total, 26 fetuses with gastroschisis were depicted by 3D US in utero (10 cases were diagnosed in the 20th century and 16 cases in the 21st century). The ranges of gestational age at prenatal diagnosis of gastroschisis by 3D US in the 20th century were between 14 and 34 weeks (mean: 21.6 weeks) and between 14 and 33 weeks (mean: 21.9 weeks) in the 21st century. Moreover, seven cases (70%) were diagnosed before the third trimester in the 20th century, whereas 13 cases (81%) were diagnosed before the third trimester in the 21st century. CONCLUSION Although without statistical significance, higher prenatal diagnosis rate before the third trimester in the 21st century was noted. The improvement of 3D US has remarkable advantages in adding novel visual depiction of a 3D lesion of a 3D fetus in 3D US after reconstruction and thus assists substantially in prenatal diagnosis, genetic consultation, and perinatal management of gastroschisis.