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Diaphragmatic eventration is the upward displacement of the abdominal viscera secondary to a thin or paralytic diaphragm. Its clinical presentations and radiographic pictures are similar to those of diaphragmatic hernia. Prenatal diagnosis of diaphragmatic eventration is extremely rare. A pregnant woman was referred to us because of abnormal cardiac findings noted at 20 weeks of gestation. A diagnosis of partial anomalous pulmonary venous connection was made on the basis of our findings of right atrial enlargement with an abnormal vascular channel drainage to it. The infant was born via cesarean section at 40 weeks and developed complications of cyanosis immediately after birth. Postnatal imaging studies and surgical findings disclosed right side diaphragmatic eventration with liver and associated vasculature upward displacement into the right pleural cavity. The cardiac structure was otherwise normal. We conclude that when an abnormal vessel tracing and unexplainable cardiac chamber asymmetry is encountered, diaphragmatic eventration should be considered as one of the differential diagnoses. Correct recognition and transferral to the hospital for neonatal assistance may lead to timely and appropriate management of these fetuses., (Copyright 2005 John Wiley & Sons, Ltd.)

Recent attempts at predelivery management of obstructed fetal airways have focused on the EXIT (ex-utero intrapartum treatment) procedure, which allows sufficient time to secure the fetal airway through preservation of uteroplacental gas exchange. We report a fetus with an exophytic oral tumor noted at 34 weeks of gestation. In this case, three-dimensional (3D) ultrasound allowed a complete and interactive evaluation of the tumor and related facial anatomy, and confirmed that access to the fetal airway was unlikely during delivery. Fetal magnetic resonance imaging (MRI) further demonstrated that the tumor originated in the nasopharynx and obstructed the upper airway. Both imaging results led to a final decision to offer an EXIT procedure for the neonate. At 36 weeks' gestation, a successful EXIT procedure was performed to reduce the risk of respiratory distress immediately after birth. This report highlights the value of 3D ultrasound and MRI as essential prerequisites for optimization of the triage process in selecting EXIT candidates., (Copyright (c) 2004 ISUOG.)

Three-dimensional ultrasound was introduced into clinical use over a decade ago. Early attempts on three-dimensional ultrasound were primitive and limited to experimental use only. Recently, it was used as a powerful tool to display three-dimensional fetal appearance and assess normal and pathological conditions. Because of the improvement in image resolution and reconstruction speed, three-dimensional ultrasound is now more and more popular in many centers, and used commonly as an adjunct in prenatal diagnosis. Indeed, a skillful sonographer may usually make the correct diagnosis of fetal anomaly with simply two-dimensional ultrasound. Nonetheless, the situation is gradually changing, because some anomalies have been diagnosed only based on the findings of three-dimensional ultrasound. In spite of that, the application of three-dimensional ultrasound is still less discussed in early pregnancy. In this article, the authors clarify the capability of three-dimensional ultrasound in different anatomic areas, and catalog its clinical merits in the early pregnancy to date. We also present the safety guidelines for its use in the first trimester.

Background and Purpose: This study examined the relationship between maternal weight and serum marker concentrations (alpha-fetoprotein [AFP] and human chorionic gonadotropin [hCG]) to develop a weight-correction formula for second-trimester Down syndrome screening in Taiwan., Methods: We conducted a prospective observational study based on data from 18, 016 pregnant Taiwanese women who participated in a second-trimester Down syndrome screening program at Taiwan Adventist Hospital. The relationship between maternal weight and the multiple of median (MoM) concentrations of serum markers was analyzed using two methods; one involved all the observational data (all point method), while the other involved only the median concentrations at various gestational ages (median regression method). In each method, several statistical approaches were used, including simple-linear, reciprocal, quadratic, and log-transformation linear regression., Results: The correlation between maternal body weight and serum marker concentrations using the all point regression method was very poor, while the median regression method achieved a good fit. The reciprocal regression analysis had the best fit between AFP MoM concentration and maternal weight, while the best fit between hCG MoM concentration and maternal weight was achieved with quadratic regression analysis., Conclusion: The present study has developed a race-specific weight-correction formula for Taiwanese women. This formula is expected to be helpful in second-trimester Down syndrome screening programs in Taiwan.

The purpose of the present study is to evaluate the efficacy of second-trimester maternal serum screening program by using alpha-fetoprotein (AFP) and total human chorionic gonadotropin (hCG) in an Asian population. During June 1994 to July 1998, we conducted a prospective study of serum screening protocol for Down syndrome. The cut-off point for a positive result in this analysis was a risk of >/=1/270. A total of 17,742 pregnant women with singleton pregnancy were screened, and 1,153 (6.5%) had positive result. Sixteen of the 17,742 pregnancies had Down syndrome, and 10 of them had positive result. The positive rate and detective rate for Down syndrome were 6.5 and 62.5%, respectively. However, the detective rate will reduce to 47.6% after being adjusted by age-specific risk. It is indicated that the double-marker test using AFP and total hCG is an effective screen strategy for second-trimester detection of Down syndrome in Asian women., (Copyright 2000 S. Karger AG, Basel.)

Objective: To evaluate second-trimester free beta-hCG and total estriol (E3) in the maternal urine as markers for Down syndrome screening in an Asian population., Methods: Free beta-hCG and total E3 were measured in the urine samples of 28 Taiwanese Down syndrome pregnancies and 268 unaffected singleton pregnancies at 14-25 weeks. Results were normalized to urine creatinine concentrations and converted to multiples of the median (MoM) levels. Gestational ages were estimated by ultrasound measurements., Results: Median values of free beta-hCG, total E3, free beta-hCG to total E3 ratio, and the free beta-hCG to total E3 MoM ratio in Down syndrome pregnancies were 4.75 MoM, 0.66 MoM, 8.99 MoM, and 9.51, respectively. At a 5% false-positive rate, the observed detection rates were 36% (ten of 28) with total E3, 71% (20 of 28) with free beta-hCG, 68% (19 of 28) with free beta-hCG/total E3, and 71% (20 of 28) with free beta-hCG/total E3 MoM. When combined with maternal age, the expected detection rates were 65% with total E3, 71% with free beta-hCG, 76% with free beta-hCG/total E3, 80% with free beta-hCG/total E3 MoM, and 89% when combining free beta-hCG, total E3, and maternal age., Conclusion: Urine free beta-hCG and total E3 are useful markers for Down syndrome screening during the second trimester in Taiwanese women.

The association of rare chromosomal rearrangements involving a specific 10q breakpoint with a single umbilical artery (SUA) and sex reversal has never been reported. This report describes the case of a fetus with prenatal ultrasound features of severe intrauterine growth retardation (IUGR), congenital heart disease, and SUA. Fetal blood study revealed de novo deletion of 10q25 and a 46,XY karyotype, while ultrasound demonstrated female genitalia. Based on these findings, sex reversal was diagnosed. Polymerase chain reaction (PCR) amplification revealed the presence of the sex-determining region of the Y (SRY) gene. The pregnancy was terminated at 36 weeks and the newborn weighed 1908 g with marked facial dysmorphism and abnormal genitalia. Because the parents refused autopsy for this case, histopathological examination of gonads was not performed. Breakpoint of the long arm of chromosome 10 may be responsible for sex reversal in the present case and it could thus confirm the concept of autosomal sex reversal proposed in previous reports.

Objective: To investigate the association between adverse perinatal outcomes and abnormal elevations of serum marker levels (alpha-fetoprotein [AFP] and free beta-hCG) or a false-positive screen for Down syndrome., Methods: Pregnancy outcome information was available for 5885 Taiwanese women under 35 years of age who had second-trimester maternal serum screening for Down syndrome, using AFP and free beta-hCG, and delivered a chromosomally normal fetus. Those with AFP at least 2.0 multiples of the median (MoM), free beta-hCG at least 2.5 MoM, or a false-positive screen (risk ratio at least 1:270) were identified, and the risk for adverse perinatal outcome was assessed., Results: A serum AFP level at least 2.0 MoM (n = 176, 3.0%) was significantly associated with the occurrence of preterm delivery, low Apgar scores, small-for-gestational-age infants, low birth weight or very low birth weight, fetal death, premature rupture of membranes, oligohydramnios, and a higher incidence of perinatal mortality. A serum free beta-hCG level at least 2.5 MoM (n = 416, 7.1%) was significantly associated with low birth weight, an abnormally adherent placenta, and the occurrence of meconium-stained amniotic fluid. A higher incidence of fetal structural anomalies other than neural tube or abdominal wall defects, large-for-gestational-age infants, and postpartum hemorrhage was observed for a calculated risk of at least 1:270 (n = 311, 5.3%) independent of the other biochemical markers., Conclusion: Asian women with unexplained elevations of serum AFP or free beta-hCG, or a false-positive screen for Down syndrome are at increased risk for various adverse perinatal outcomes. Careful fetal ultrasound examination and thoughtful strategy for perinatal management are warranted for these patients.

Objective: To evaluate whether the strategy of maternal serum screening for Down syndrome, using alpha-fetoprotein (AFP) and free beta-hCG in combination with maternal age, a technique developed in western countries, is applicable to an Asian population., Methods: Alpha-fetoprotein and beta-hCG were measured in serum samples from 23 Down syndrome pregnancies and 1748 unaffected singleton Taiwanese (ethnically Chinese) pregnancies at 14-22 weeks' gestation. Gestational age-specific medians and a maternal weight correction formula were established for our own population. Likelihood ratio for Down syndrome pregnancies in relation to multiples of the median (MoM) levels of these analytes were derived from the overlapping gaussian frequency distribution curves for Down syndrome and unaffected pregnancies., Results: The serum AFP and free beta-hCG median MoM values of Down syndrome pregnancies were significantly abnormal in Asian subjects (0.77 and 2.91, respectively), and similar to those of affected pregnancies in white women. The median value of free beta-hCG:AFP MoM ratio (2.97) in Down syndrome pregnancies was significantly higher than that of unaffected pregnancies (1.09). The mean maternal weight during the second trimester in pregnant Asian women (55.2 kg) was markedly lighter than that of white women. At a 5.8% false-positive rate, free beta-hCG identified 47.8% of Down syndrome pregnancies (likelihood ratio 8.2), AFP detected only 13% of the cases (likelihood ratio 2.2), and free beta-hCG:AFP MoM ratio detected 43.5% of the cases (likelihood ratio 7.4). By using a multivariate risk algorithm involving the combination of AFP, free beta-hCG, and maternal age, 56.5% of Down syndrome cases could be detected with a 5.3% false-positive rate (likelihood ratio 10.7)., Conclusion: Maternal serum screening strategy using AFP and free beta-hCG in combination with maternal age is feasible in the detection of fetal Down syndrome among Asian women.

Objective: To determine the frequency of intrauterine rubella infection in Taiwan., Methods: One hundred three pregnant women with evidence of rubella infection were enrolled. Congenital rubella infection was diagnosed by testing specific immunoglobulin (Ig) M in fetal cord serum obtained from funipuncture or amniotic fluid culture. The fetal outcomes were evaluated by ultrasonic examination, specific antibody detection in cord blood at birth, and complete physical examination during early childhood., Results: Prenatal diagnosis was possible in 95 of 103 fetuses, 93 by funipuncture and two by amniocentesis. Five intrauterine rubella infections were detected prenatally, and another one was diagnosed after birth. The intrauterine infection rates were 10.0, 11.8, 2.9, and 6.5% after maternal infection at 1-10, 11-14, 15-19, and 20-29 gestational weeks, respectively. Among the six fetuses with serologic evidence of congenital infection, one had congenital rubella syndrome with sensorineural deafness, two were terminated during the second trimester, two others were normal, and one was lost to follow-up. With the exception of the infant with clinical congenital rubella syndrome, no evidence of rubella defects was found in the other 81 children who received follow-up to 2-4 years old., Conclusion: The risk of congenital rubella infection in seropositive pregnant women is relatively low in Taiwan.

Using trypsin-Giemsa banding, a total of 1,350 unrelated Chinese fetuses were studied for pericentric inversion of chromosome 9 [inv(9) (p11; q13)]. Sixteen cases (1.2%) were found to have this variant. The prevalence was higher than that in a previous report on Asians. All the fetuses with inv(9) were born with a normal phenotype.

Alpha-thalassemia of Southeast Asian deletion (-- SEA/) is very common in Southeast Asia. Homozygosity of this genotype is the major cause of Hb Bart's hydrops fetalis in Taiwan. With polymerase chain reaction using three oligonucleotide primers bridging the common deletion breakpoint, a DNA fragment of 194 basepairs (bp) was amplified in chromosomes with the -- SEA determinant and a DNA fragment of 287 bp was amplified in chromosomes without this deletion. In our pilot study including 8 normal subjects, 20 obligate carriers, and 11 homozygotes of the deletion, all the genotypes were determined and then confirmed by Southern blotting and DNA hybridization with phi zeta globin gene probe. For prenatal diagnosis, 55 at-risk pregnancies were collected. Chorionic villus sampling was done in 51 cases and early amniocentesis was done in 4 cases. Fourteen cases (25.5%) were diagnosed as normal, 25 (45.5%) as heterozygotes, and 16 (29%) as homozygotes of -- SEA. All of the diagnoses were also confirmed as aforementioned. With polymerase chain reaction, the determination of the -- SEA deletion is straightforward and is much quicker and easier than with conventional Southern blotting and DNA hybridization. In areas with a high prevalence of -- SEA deletion, this method provides a rapid tool for carrier detection and prenatal diagnosis.

Thirty-six pregnancies in 25 families at risk of beta-thalassaemia major received prenatal diagnosis. Chorionic villus sampling or amniocentesis was done in 35 pregnancies to obtain fetal cells for DNA linkage study, for which Southern blotting and DNA hybridization were used to detect seven restriction fragment length polymorphisms (RFLPs) within the beta-globin gene cluster: epsilon-HincII, G gamma-HindIII, A gamma-HindIII, phi beta-HincII, 3' phi beta-HincII, beta-AvaII, and 3' beta-BamHI. beta-Thalassaemia major was diagnosed in seven and excluded in 22 pregnancies. In the remaining six cases, beta-thalassaemia major could not be excluded. In these six pregnancies and another one with late booking, ultrasound-guided cordocentesis was performed at the 22nd to 27th week of gestation. Globin chain composition was determined with urea-acetic acid-Triton X-100-12 per cent polyacrylamide gel electrophoresis. beta-Thalassaemia major was diagnosed in two fetuses and excluded in the other five. Eleven fetuses (in which beta-thalassaemia major was excluded) have been delivered and are healthy at more than 5 months old. DNA linkage analysis coupled with globin chain electrophoresis provides an effective way for prenatal diagnosis of beta-thalassaemia major, although these methods are being replaced by more direct detection techniques using oligonucleotide probes.

Twenty newborns, prenatally diagnosed to have congenital malformations, received surgical correction postnatally in recent 7 years. Using serial ultrasound examinations, the following lesions were found: multicystic dysplastic kidney (3 cases), ureteropelvic and ureterovesical junction stenosis (1 case), Mullerian duct cyst (1 case), sarococcygeal teratoma (3 cases), adenomatoid malformation of lung (1 case), omphalocele (1 case), gastroschisis (1 case), duodenal atresia (1 case), ileal atresia (1 case), meconium peritonitis (2 cases), imperforate anus (1 case), adrenal cyst (1 case), congenital diaphragmatic hernia (1 case) and a pair of xipho-omphalopagus twin. The results of surgical corrections were good in all except one baby with omphalocele who died of respiratory distress syndrome.

Nonimmune hydrops fetalis can be caused by fetal chromosomal, hematologic, cardiac, or infectious conditions. A fetal blood sample obtained from percutaneous ultrasound-guided fetal blood sampling can offer vital information about the underlying cause of nonimmune hydrops fetalis, and perinatal management can be planned accordingly. Ten cases of nonimmune hydrops fetalis were investigated with percutaneous ultrasound-guided fetal blood sampling and subsequent fetal blood analysis. Nine were proved to be Bart's hemoglobin hydrops fetalis, with 78.2% to 99% of Bart's hemoglobin in the fetal blood. Terminations of pregnancy were undertaken immediately, resulting in a lowered maternal morbidity rate. Free cord loops or an intra-abdominal portion of the dilated umbilical vein can be used for percutaneous fetal blood sampling in nonimmune hydrops fetalis when the placental cord insertion is difficult to visualize. Percutaneous ultrasound-guided fetal blood sampling and subsequent fetal blood analysis will eventually play a key role in the management of the puzzling nonimmune hydrops fetalis if the safety of ultrasound-guided fetal blood sampling can be verified by further clinical studies.

One hundred and sixty sequential measurements of umbilical vein blood flow (UVBF) and descending aorta blood flow (DABF) in normal fetuses were performed in utero by the duplex real-time ultrasound and pulsed Doppler technique. Throughout pregnancy from 26 to 41 weeks the blood flow velocity of the umbilical vein (UV) and the descending aorta (DA) remained relatively constant, while the diameter of UV and DA, UVBF and DABF increased with advancing gestational age. Moreover, the UVBF-to-DABF ratio was nearly constant, with a mean value of 64% from 26 weeks onwards. The DABF-to-abdominal area (DABF-to-AA) ratio was constant throughout pregnancy, with a mean value of 7.0 ml/min/cm2. We call these two constants the umbilical-aortic index and descending-aortic index. These relationships may be of help in the diagnosis of intrauterine growth retardation and other fetal disorders.

Percutaneous ultrasound-guided fetal blood sampling was performed on 100 pregnancies with various fetal problems. Our technique involved the use of a 45 degree needle guide attached to a sector probe. Their gestational ages ranged from 17-38 weeks, mostly over 20-35 weeks. Seventy percent of cases were successful at the first sampling and 33% of cases had bleeding from the punctured cord. In 43 cases, a positive diagnosis was established after ultrasound-guided fetal blood sampling, including 25 Hemoglobin Bart's hydrops fetalis, 2 beta-thalassemia major, 1 hemophilia, 1 rubella infection, 1 syphilis and 13 chromosome aberrations. There were 33 survivors in this series. Seven anomalous fetuses ended in intrauterine deaths. Sixty cases resulted in neonatal deaths after spontaneous or induced labors. No fetal loss occurred in 25 normal fetuses. One fetal loss was probably related to the procedure (fetal loss rate 1/100). No immediate fetal death after sampling procedure was noted. In conclusion, ultrasound-guided fetal blood sampling had reasonable safety and technical feasibility. More common use of this technique in fetal investigations is justified and expected.