Maternal Fetal Medicine Center Research Articles

Factors influencing the choice-of-care pathway and survival in the fetus with hypoplastic left heart syndrome in New Zealand: a population-based cohort study

ObjectivesTo better understand the relative influence of fetal and maternal factors in determining the choice-of-care pathway (CCP) and outcome in the fetus with hypoplastic left heart syndrome (HLHS).DesignA retrospective, population-based...

Perinatal and Neonatal Outcomes in Fetal Growth Restriction and Small for Gestational Age.

Alterations in intrauterine fetal growth increase the risk of adverse perinatal and neonatal outcomes. In this retrospective study, we analyzed data of 906 pregnancies collected in our maternal fetal medicine center, with different patterns of growth: 655 AGA (Appropriate for Gestational Age), 62 SGA (Small for Gestational Age: fetuses born with a weight less than 10° centile, not diagnosed before delivery), 189 FGR (Fetal Growth Restriction, classified in early and late according to gestational week at diagnosis). For each group, we compared maternal characteristics, gestational age at delivery, and perinatal and neonatal outcomes. Risk factors for fetal growth alterations were advanced age, being primiparous, and a lower pregestational BMI. FGR fetuses were born at earlier gestational ages (32 [IQR 29–38] early-FGR and 38 [IQR 36–39] late-FGR), with blood gas values comparable to the AGA group but worse neonatal outcomes related to prematurity. Unexpected SGA fetuses born by vaginal delivery, managed as AGA, were more hyperlactacidemic (4.4 [IQR 2.7–5.5]) and hypoxemic (−5.0 [IQR −7.1–2.8]) at birth than both AGA and FGR. However, neonatal outcomes (accesses and days of hospitalization in NICU) were better than FGR, likely due to gestational age and birthweight similar to AGA.

Maternal and neonatal outcomes of expectantly managed pregnancies with previable preterm premature rupture of membranes.

This study aimed to describe the maternal and fetal outcomes associated with expectant management following previable preterm premature rupture of membranes (PPROM) before 24 weeks of gestation. We also analyzed the risk estimates of potential confounders to clarify whether these variables are contributed to the risk of postnatal mortality among these neonates. This retrospective cohort study included all pregnant patients who experienced previable PPROM before 24 weeks of gestation at a tertiary maternal-fetal medicine center. We used the neonatal data from birth until discharge. A total of 128 women were enrolled. The survival to discharge rate was 60.9%. The median latency period (80vs. 20 days, respectively, p < 0.001) was significantly longer, the median gestational week at delivery (34 vs. 25 weeks, respectively, p < 0.001) and median birth weight (2100 vs. 710 g, p < 0.001) was significantly higher in the survivor group than the non-survivor group. Surviving neonates had significantly lower frequencies of anhydramnios at any time during the latency period than the non-survivor neonates (38.4% vs. 86.0%, respectively, p < 0.001). This study demonstrated an opposite correlation between the duration of latency period and gestational age at PPROM with earlier membrane rupture in pregnancies having a longer latency period, which additionally clarifies the higher gestational age at delivery. The antepartum factors that increased the possibility of postnatal mortality within our study included the gestational week at delivery, duration of the latency period, anhydramnios at any time during the latency period, and birth weight.

Adherence rates and outcomes for 17-hydroxyprogesterone caproate use in women with a previous history of preterm birth

Progesterone has been used for preventing preterm birth with mixed results. The American College of Obstetricians and Gynecologists and Society for Maternal-Fetal Medicine recommended the use of 17-hydroxyprogesterone caproate for risk reduction of recurrent spontaneous preterm birth based on the results of a multicenter, randomized trial in the United States. However, recent literature lacks consensus for efficacy in the American population. In addition, partial adherence and outcomes thereof are underreported. Hence, the relationship between practical adherence to 17-hydroxyprogesterone caproate and outcomes were evaluated. The objective of this study was to evaluate the adherence to 17-hydroxyprogesterone caproate, defined as receipt of greater than 80% of intended injections, at an outpatient maternal-fetal medicine center and its effect on maternal and neonatal outcomes. This retrospective cohort study included women older than 18 years with a singleton gestation, history of spontaneous preterm birth who initiated 17-hydroxyprogesterone caproate weekly injections between 16 and 20 weeks' gestational age and delivered between the years 2014 and 2017. Women receiving 17-hydroxyprogesterone caproate injections outside of the clinic were excluded. The primary outcome of adherence and secondary outcomes of gestational age at delivery, birthweight, and neonatal outcomes were analyzed using descriptive data, independent t-test, Mann-Whitney U test, chi-square test, and Fisher exact test, where appropriate, with a P value <.05 being considered significant. Adherence to 17-hydroxyprogesterone caproate occurred in 38 of 92 (41.3%) women included in the study. At baseline, there was a difference in age between groups of adherent and nonadherent women (adherent: 30.8 years; nonadherent: 27.4 years; P=.002). The rate of spontaneous preterm birth less than 37, 35, and 32 weeks were not significantly different in those who were adherent vs nonadherent to 17-hydroxyprogesterone caproate. There were no differences in gestational age at delivery (adherent: 36.8±2.6 weeks; nonadherent: 36.5±3.8 weeks; P=.66), birthweight (adherent: 2776 g; nonadherent: 2709 g; P=.68), or composite neonatal morbidity (adherent: 18.4%; nonadherent: 20.4%; P=.86) between the adherent and nonadherent groups. Neonatal intensive care unit length of stay was 15.5 days in the adherent group compared with 15 days in the nonadherent group (P=.72). Real-world adherence to 17-hydroxyprogesterone caproate is suboptimal with less than half of women adherent to in-clinic administration. Adherence to 17-hydroxyprogesterone caproate was not associated with a difference in gestational age at delivery or birthweight compared with nonadherence. Further studies are needed to assess the outpatient administration and benefit of 17-hydroxyprogesterone caproate therapy.

Description of misdiagnosis and missed diagnosis of fetal complex heart malformations by prenatal echocardiography combined with postnatal cardiovascular casting.

To compare prenatal echocardiography with postnatal cardiovascular casting for detection of fetal cardiovascular malformations, and to discuss the causes of prenatal misdiagnosis and missed diagnosis. We retrospectively identified patients from 2013 to 2018 at our Maternal-Fetal Medicine Center who were reported to have a fetal diagnosis of severe congenital heart malformations (CHMs). Subjects had postnatal confirmation of CHMs. Prenatal and postnatal medical records, including ultrasound results and casting findings, were reviewed and analyzed. Postnatal casting showed that all 35 fetuses had complex CHMs. In these 35 cases, 90 cardiovascular malformations were found by postnatal casting, and 69 were detected by prenatal echocardiography. Among the other 21 cardiovascular malformations, 7 were misdiagnosed and 14 diagnoses were missed by prenatal ultrasound. Prenatal echocardiography may lead to misdiagnosis and missed diagnoses, especially in cases with great arterial branching anomalies. Postnatal casting can demonstrate the configuration of the great vessels and smaller branches directly. Thus, understanding of such malformations via postnatal casting may help to improve prenatal diagnostic accuracy.

Accuracy of prenatal ultrasound in the diagnosis of corpus callosum anomalies

Objectives: The main objective of this study was to evaluate the accuracy of prenatal ultrasound to diagnose corpus callosum alterations, compared to prenatal magnetic resonance imaging (MRI), postnatal image techniques (ultrasound and/or MRI), and post-mortem examination in terminated pregnancies.Methods: Retrospective review of 86 cases of prenatal ultrasound diagnosis of corpus callosum anomalies between January 2007 and December 2015 at a third level Maternal Fetal Medicine center. The study reviewed the findings of prenatal ultrasound and MRI, post-mortem examination in cases of termination of pregnancy (TOP) or stillbirths and postnatal ultrasound, and MRI in neonates. The anomalies of corpus callosum (CC) were classified as complete agenesis of the corpus callosum (ACC), partial ACC, or dysgenesis of CC.Results: Fifty-eight (67.4%) cases resulted in TOP, 26 (30.2%) cases opted to continue with the pregnancy and two (2.3%) cases were lost to follow up. Among the 26 cases that continued with the pregnancy, 24 (92.3%) were live births and two (7.7%) were stillborn. All cases in which a third trimester MRI was performed (n = 46) confirmed the prenatal ultrasound diagnosis of CC anomaly. In seven (15.2%) of them, the MRI found additional intracranial findings and in three cases (6.5%) the type of CC anomaly (complete, partial, or dysgenesis) was reclassified (Kappa index: 0.86, 95% CI: 0.71–1.00). CC anomalies were confirmed in 46 (95.8%) of the 48 cases in which a post-mortem examination was available, the type of anomaly being reclassified in three cases (6.3%) (Kappa index: 0.88, 95% CI: 0.75–1.00). Among the 10 cases in which a postnatal ultrasound was performed, the CC anomaly was confirmed in all and the type of anomaly was reclassified in 1 (10%) of them (Kappa index: 0.75, 95% CI: 0.32–1.00).Conclusion: Corpus callosum agenesis can be detected on the routine mid-trimester ultrasound scan. Prenatal ultrasound and MRI can accurately classify the type of CC abnormality. Moreover, third trimester MRI can detect additional intracranial anomalies in 15% of cases.

925: Non-reportable cell-free DNA: patient preferences, utility of repeat draw, and outcomes

To investigate predictors of a repeat non-reportable (NR) cell-free DNA (cfDNA) result and evaluate its association with adverse pregnancy outcomes. This was a retrospective cohort study of patients with NR cfDNA results from a maternal fetal medicine center from March 2013 to June 2018. A NR result for chromosomes 21, 18, 13 or sex chromosomes was categorized as NR. A NR result for a microdeletion but negative testing for above chromosomes were excluded. The primary outcome was aneuploidy or microarray abnormality on prenatal or postnatal genetic testing. Secondary outcomes evaluated were maternal characteristics, testing laboratory and methodology, and pregnancy and neonatal outcomes. Statistical analysis was performed utilizing Student’s t-test and Fisher’s exact test. Forty-six patients had NR cfDNA results, of which 31 (67.4%) had low fetal fraction (FF). Mean maternal age was 34.2 ± 4.9 years, and median gestational age at initial blood draw was 10.4 weeks (IQR 10.1 – 11.6). Median body mass index (BMI) was 28.1 kg/m2 (IQR 23.6 – 32.6), and 43% were obese. Of these patients, 6 (13%) chose diagnostic testing, 38 (82.7%) opted for a repeat blood draw, and 2 (4.3%) declined additional testing. On repeat cfDNA sampling, 15 (39.5%) had a NR result and 23 (60.5%) had a reported result. Maternal age and BMI did not significantly differ in patients with a persistent NR result (p > 0.05); they were more likely to have maternal comorbidities (p = 0.04) and a FF < 4% at time of initial blood draw (p = 0.05). Obtaining a reportable or NR result on redraw did not differ by laboratory or testing method (p > 0.05). Patients with a repeat NR result were significantly more likely to undergo diagnostic testing (66.7% vs 4.3%, p < 0.01), which yielded an aneuploidy result in 20% of patients. Pregnancy outcomes did not significantly differ in patients with a repeat NR result (p > 0.05), detailed in the table. Almost half of repeat testing following a NR cfDNA result will again be NR. Repeat NR result is more likely in patients with medical comorbidities and FF < 4% at initial blood draw. It is associated with a 20% incidence of aneuploidy but not associated with an increased risk of adverse pregnancy outcomes. These test characteristics are important to consider when counseling patients on management following an initial NR cfDNA result.

OC27.04: Utility of infectious and cystic fibrosis workup in prenatal diagnosis of echogenic intra‐abdominal structures

To evaluate the incidence of neonatal congenital and infectious outcomes for patients diagnosed with fetal echogenic intra-abdominal structure (EIAS). This is a retrospective cohort study of patients diagnosed with EIAS during anatomical survey ultrasound at a high-volume maternal fetal medicine centre from January 2015-December 2017. EIAS was defined as an echogenic structure in the fetal abdomen >1 mm, and was evaluated by location. Charts were abstracted to determine rates of testing for cystic fibrosis (CF) and infection. Neonatal diagnoses of CF, congenital infection, small for gestational age (SGA), and postpartum bowel findings were evaluated. There were 128 fetuses with EIAS: 110 resulted in live births, 15 terminated the pregnancy (median GA 20.6 weeks) and 3 had intrauterine fetal demise (median GA 20.2 weeks). Sixty-one (47.7%) subjects had CF testing, and there were no fetuses with both partners testing positive on carrier screening. There were also no cases of CF in the 110 live births. Eighty-three (64.8%) mothers were tested antenatally for TORCH infections. Four (4.8%) had positive IgM (3 CMV, 1 Toxoplasma) resulting in amniocentesis, with no cases of fetal infection. No neonates were diagnosed with congenital TORCH infections. Thirteen (10.1%) had a birth weight of <2500g, and of these, 53.8% were preterm. There was no statistical difference in SGA and prematurity between fetuses with echogenic bowel and EIAS. There were three significant neonatal bowel findings (2.7%): one neonate had a meconium plug, one neonate had an imperforate anus requiring anoplasty, and one neonate had a known diagnosis of omphalocele, with no statistical difference between echogenic bowel and EIAS. This study suggests the actual rates of CF or infections in prenatal diagnoses of EB or EIAS may be less than previously thought. The necessity of infection and CF work-up, particularly with newer sequencing technology, needs to be reassessed in larger populations.

Complexity of gastroschisis predicts outcome: epidemiology and experience in an Australian tertiary centre

BackgroundGastroschisis is a congenital anomaly of the fetal abdominal wall, usually to the right side of umbilical insertion. It is often detected by routine antenatal ultrasound. Significant maternal and pediatric resources are utilised in the care of women and infants with gastroschisis. Increasing rates of gastroschisis worldwide have led institutions to review local data and investigate outcomes. A collaborative project was developed to review local epidemiology and investigate antenatal and neonatal factors influencing hospital length of stay (LOS) and total parental nutrition (TPN) in infants born with gastroschisis.MethodsWe performed a five-year review of infants born with gastroschisis (2011–2015) at a major Australian centre. Complex gastroschisis was defined as involvement of stenosis, atresia, ischemia, volvulus or perforation and closed or vanishing gastroschisis. We extracted data from files and databases at the two participating hospitals, a major maternal fetal medicine centre and the affiliated children’s hospital.ResultsThere were 56 infants antenatally diagnosed with gastroschisis with no terminations, one stillbirth (2%) and one infant with ‘vanishing’ gastroschisis. The mean maternal age was 23.9 years (range, 15–39 years). The mean gestation at delivery was 36 weeks (range, 25–39+ 3 weeks). Of the 55 neonates who received surgical management, 62% had primary closure. The median LOS was 33 (IQR, 23–45) days and the median duration of TPN was 26 (IQR, 17–36) days. Longer days on TPN (median 35 vs 16 days, P = 0.03) was associated with antenatal finding of multiple dilated bowel loops. Postnatal diagnosis of complex gastroschisis was made in 16% of cases and was associated with both longer LOS (median 89 vs 30 days, P = 0.003) and days on TPN (median 46 vs 21 days, P = 0.009).ConclusionComplex gastroschisis was associated with greater days on TPN and LOS. We found no late-gestation stillbirths and a low overall rate of 1.8%, suggesting the risk for stillbirth associated with gastroschisis is lower than previously documented. This information may assist counselling families. Improved data collection worldwide may reveal causative factors and enable antenatal outcome predictors.

234: Incidence of adverse pregnancy outcomes based on mode of conception in monochorionic diamniotic twins

To compare the incidence of monochorionic diamniotic (MCDA) twin-specific complications in spontaneous versus assisted reproductive technology (ART)-conceived MCDA twin pregnancies. This was a retrospective cohort study of all MCDA pregnancies followed at a maternal fetal medicine center between January 1, 2012 and July 15, 2017. Exclusion criteria were structural anomalies, chromosomal abnormalities, or intrauterine fetal demise prior to 16 weeks. MCDA twin pregnancies were divided into two groups: spontaneous or conceived by ART. The primary outcome was development of twin-to-twin transfusion syndrome (TTTS), twin anemia polycythemia sequence (TAPS), or selective intrauterine growth restriction (sIUGR). The student t-test and the chi(2) test were used to compare categorical variables and means. Inter-correlations between variables (namely MCDA complications) were investigated by Spearman rank correlation. Ninety-one MCDA twin pregnancies met inclusion criteria. Of these pregnancies, 64 (70.3%) were conceived spontaneously and 27 (29.6%) were conceived by ART. Maternal age was significantly higher in the ART group (p < 0.001) and body mass index was significantly lower (p < 0.01). Women who had conceived by ART were more likely to identify as white (47% versus 21%, p<0.05) and carry a medical comorbidity unrelated to a MCDA pregnancy, namely thyroid and autoimmune disease (p<0.05). Overall, 9.9% of all MCDA twins developed TTTS: 12.5% versus 3.7%, from the spontaneous versus ART group respectively (r = -0.13, p = 0.72). Seven pregnancies (7.7%) were complicated by TAPS: 9.3% spontaneous conceptions versus 3.7% ART conceptions (r=-0.09, p=0.19). Thirty (33%) pregnancies developed sIUGR: 34% versus 29.6% (r=-0.03, p=0.10). MCDA pregnancies conceived by ART were more likely to undergo a caesarean section (p<0.05) with no difference in gestational age of delivery (mean 34 weeks, p=0.34). Conception via fertility treatment does not appear to increase the incidence of MCDA-specific pregnancy complications.

Developing Partnerships to Expand Interprofessional Practice-Focused Educational Experiences in High-Risk Obstetric Care

Healthcare practice is continuing to shift toward interprofessional team-based care to improve the patient experience and the health of populations as well as to reduce the per capita cost of healthcare (National Center for Interprofessional Practice &amp; Education, 2013). In particular, high-risk pregnancy is a uniquely complex healthcare challenge, which makes team- and partnership-based care in this specialty essential (American College of Obstetricians and Gynecologists’ Task Force on Collaborative Practice, 2016). Despite healthcare leaders in the United States recognizing the need for collaborative care models and team-based care, the training of healthcare professions students in the skills needed to collaborate effectively as part of an interprofessional team have lagged dramatically behind the changes in current healthcare practices (Interprofessional Education Collaborative [IPEC] Expert Panel, 2011; National Center for Interprofessional Practice &amp; Education, 2015b). A Doctorate of Nursing Practice (DNP) Student and a Women’s Health DNP Program faculty identified that there was an opportunity to implement interprofessional practice-focused immersion experiences for advanced practice registered nursing (APRN) students at an academic Maternal-Fetal Medicine Center. The faculty and student partnership allowed for the project interventions to be integrated directly into an existing APRN practicum course.&#x0D; This project’s implementation provided an opportunity for the Maternal-Fetal Medicine Center to integrate APRN students into their clinical team, and demonstrated that interprofessional practice-focused immersion experiences are beneficial for students’ learning of how to collaborate effectively as part of an interprofessional team, which is congruent with the research. The Maternal-Fetal Medicine Center embodied many of the components of the domains of interprofessional practice and qualities of a partnership-based system, making it an optimal site for interprofessional learning. This project’s positive results support a sustainable and unique partnership between the School of Nursing and the Maternal-Fetal Medicine Center to expand student opportunities as members of an interprofessional team in a high-risk obstetric care setting. Continued exposure of healthcare professions students to partnership-based healthcare settings like this center may help to shift systems toward the partnership paradigm.

Patterns of fetal growth in an Asian Indian cohort in the USA

To determine whether a greater proportion of fetuses in an Asian Indian cohort are classified as small for gestational age than would be expected from a normally distributed population. A retrospective analysis of fetal growth pattern and neonatal outcome was conducted among Asian Indian women who were referred to a maternal-fetal medicine center in Park Ridge, IL, USA, for evaluation of fetal growth between January 1, 2012, and December 31, 2013. The primary outcome was an abdominal circumference or estimated weight of lower than the 10th percentile for gestational age according to the Hadlock formula. Overall, 207 women and 210 fetuses were included. Forty-eight (22.9%) fetuses had an abdominal circumference lower than the 10th percentile. The total number of neonates classified as small for gestational age at delivery was 22 (10.5%), a value indicative of a normally distributed population. Fetal size was smaller than expected among the present Asian Indian cohort, but most neonates were classified as appropriate for gestational age at birth. Population specific growth curves are needed to improve assessment of fetal growth.

Prenatal diagnosis of fetal gastroschisis – The experience of Maternal-Fetal Medicine Centre in Olsztyn

Gastroschisis represents a congenital malformation of the anterior abdominal wall. It is a defect characterized by protrusion of the abdominal viscera through the full-thickness abdominal defect (peritoneum, muscle, fascia and skin). Diagnosis of gastroschisis can be made as early as the first trimester and routinely in the second trimester by fetal ultrasound. Prenatal diagnosis of gastroschisis is important because it enables rapid and appropriate management both during pregnancy and after delivery. The aim of this work is a retrospective analysis of fetal gastroschisis diagnosed in the Maternal-Fetal Medicine Centre in the years 1998–2011. The analysis included 35 cases of fetal gastroschisis diagnosed in the Maternal-Fetal Medicine Centre in the years 1998–2011. The most numerous group of pregnant women, whose fetuses were diagnosed with gastroschisis, were young women below 35 years of age, more frequently residents of rural than urban areas, in most cases primiparas. Herniated contents most often contained small and large intestine. In 60% of fetal gastroschisis no complications were observed during pregnancy. Early diagnosis seems to be of particular importance, as it allows monitoring for potential complications of gastroschisis, which may affect prompt decisions of elective preterm delivery, delivery at a referral center, and hence the possibility of preparing neonatal and pediatric surgical team.

Efficacy of the regional reference system of prenatal diagnosis based on the analysis of results of Maternal-Fetal Medicine Centre in Olsztyn

Congenital malformations are morphological abnormalities acquired in intrauterine life and identifiable at birth. The aim of the analysis of outcomes of the Maternal-Fetal Medicine Centre (MFMC) practice in Olsztyn in the years 1998–2012 was to assess the efficacy of regional reference system of prenatal diagnosis. MFMC in Olsztyn performs reference non-invasive prenatal diagnosis for Warmia-Masuria Province. Patients are referred to MFCM by general gynecologists in the case of a suspected malformation or difficulty in the assessment of fetal morphology, and compulsory in the case of women above 35 years of age (NHF program). The analysis included total number of identified malformations, types of abnormalities, maternal age and gestational age at the time of diagnosis, geographic distribution in the province, number of identified malformations that were reported in national records of Polish National Registry of Fetal Cardiac Pathology. In the material of MFMC urinary tract defects were predominant. There was a significant amount of defects in children of mothers below 35 years of age. Most defects were diagnosed in the first pregnancy. Mothers of infants with malformations more often lived in urban areas. Most defects were diagnosed in pregnant women living in Olsztyn and geographically closest counties, and the least defects were diagnosed in patients living on the eastern edge of the province. Results of the analysis confirm the significance of the presence of a facility with a profile similar to MFMC in our region. Factors that improve detection of fetal abnormalities in our region may include: extension of the NHF program to the entire population of pregnant women, improvement of first trimester diagnosis, increase of the availability of reference fetal echocardiography in pregnant women over the age of 35. Infrastructure improvement in the province may also positively affect the detection of anomalies.

Elevated umbilical artery systolic/diastolic ratio in the absence of fetal growth restriction

To evaluate whether patients with isolated elevation of umbilical artery (UA) systolic/diastolic (S/D) ratio are at increased risk for adverse perinatal outcome. This is a retrospective cohort study of 330 patients who underwent routine evaluation at our maternal fetal medicine center. We regularly perform UA S/D ratio analysis with every third trimester sonogram. All identified patients were included and divided into four groups based on estimated fetal weight (EFW) and UA S/D ratio. Perinatal outcome was compared between the groups. Regardless of the EFW, fetuses with persistent elevated UA S/D ratio showed significantly more preterm deliveries (p < .001), neonatal intensive care unit (NICU) admissions (p < .001), longer stay in the NICU (p < .001) and lower birth weight (p < .001) relative to controls. Stepwise logistic regression analysis demonstrated that being a member in any study group significantly and independently predicted birth weight less than the 10th percentile and preterm delivery. Patients with persistently elevated S/D ratio were significantly and independently from other factors, more likely to have a newborn admitted to the NICU. Our results indicate a suboptimal perinatal outcome in all pregnancies with an elevated UA S/D ratio. These fetuses may benefit from intensive monitoring.

P07.06: Diagnosis of patent urachus in first trimester: a case report

Patent urachus results when there is a persistence of an allantois remnant, which normally undergoes atresia during embryological development. It is a rare umbilical anomaly, which is poorly detected prenatally and frequently confounded with pseudo bladder extrophy, megacystis or omphalocele. A 28-year-old woman, primigravida, was referred to our maternal-fetal medicine center at 12 weeks of gestation after diagnosis of a megabladder. Subsequent 2D and 3D ultrasound examination revealed a large hypoechogenic cyst communicating with the vertex of the relative small bladder. Serial ultrasound scans every two weeks showed the cyst to increase up to 45 mm. Amniocentesis at 16 weeks demonstrated a normal male karyotype. Termination of pregnancy occurred at 18 weeks because of associated progressive bilateral hydronefrosis. Subsequent autopsy confirmed the prenatal diagnosis of patent urachus cyst and described hydronefrosis and microcolon. Few cases of urachus cyst diagnosed prenatally are reported in the literature, but none were associated with progressive dilated uropathy. Although patent urachus is not life threatening and has good prognosis, concomitant fetal structural anomalies could change a perinatal result. Our case illustrated the possibility and efficiency in prenatal diagnosis of 2D/3D ultrasound examination. Supported by the grant MZOFNM2005 and CZ.2.16/3.1.00/24022.

Intrapartum operation on fetuses with birth defects and its outcome

To discuss the value of intrapartum operation in management of birth defects and the prognosis. From August 2008 to November 2009, 11 fetuses were identified with birth defects through 3D color Doppler ultrasound and confirmed by MRI and fetal karyotype in the Maternal Fetal Medicine Center, Affiliated Shengjing Hospital, China Medical University including three lymphangiomas, two congenital diaphragmatic hernias (CDH), one sacrococcygeal teratoma, three omphalocele and two gastroschisi. All the above identified birth defects were indications for surgery. All fetuses were born abdominally and received intrapartum operations, including three intrapartum fetal operations with placental infusion (two repairs of CDH, one sacrococcygeal teratoma resection), six ex-utero intrapartum treatment (EXIT; two repairs of omphalocele, two repairs of gastroschisi, two lymphangioma resection) and two surgeries in house (one omphalocele repair and one lymphangioma resection). Both the mothers and fetuses were regularly followed up. (1) OPERATIONS: the average operating time for the three intrapartum fetal operations was 89 minutes, 5.5 minutes for the six EXIT, during which EXIT was performed first, followed by blocking the umbilical circulation and neonatal surgery, and 37 minutes for the two surgeries in house. All neonates survived except for one death from severe CDH at 3.5 hours after the operation. The average blood loss for cesarean section and fetal operation was 275 ml. All mothers recovered soon without fever or infection and were discharged three to five days after the operation. (2) Follow-ups: the ten survived neonates were followed up at 1-18 months at the pediatric clinics and all were growing and developing normally except for one baby with gastroschisi suffered from enteral torsion and feeding intolerance showed lower weight than babies at the same age, but caught up to normal at four months old after posture therapy. One baby with mild CDH developed pulmonary infection at two months after operation with 1/4 pneumothorax on chest X-ray, and were hospitalized for two weeks. At six months old, patent ductus arteriosus was diagnosed in the same baby and chest X-ray was normal. The baby with omphalocele was complicated with ventricular septal defect before operation and the cardiac function was normal during follow-ups for one year. The baby with sacrococcygeal teratoma was reported to have no automatic micturition, but recovered to normal at one month of age. Babies with certain birth defects can be managed through intrapartum operation with better outcomes.

Methylation pattern at the KvDMR in a child with Beckwith–Wiedemann syndrome conceived by ICSI

M.V. Gomes,* C.C. Gomes, W. Pinto Jr, and E.S. Ramos Department of Genetics, School of Medicine of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto, Sao Paulo, Brazil Santa Brigida Maternal-Fetal Medicine Centre, CEMMEF Santa Brigida, Curitiba, Brazil Specialized Medical Centre, CEMESP, Campinas, Sao Paulo, Brazil Departments of Gynecology and Obstetrics and Genetics, School of Medicine of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto, Sao Paulo, Brazil

Etiology and outcome of hydrops fetalis.

To identify the etiology and pregnancy outcome of hydrops fetalis in a cohort of pregnancies referred to a tertiary maternal fetal medicine center in the UK. These data allow the review of a large series of pregnancies affected by hydrops fetalis and emphasize the importance of investigation and then treatment of individual cases. This provides parents with improved information and especially specific prognostic information. A retrospective review of 63 consecutive cases of hydrops fetalis managed between September 1996 and March 1999. Of the pregnancies, 12.7% (n = 8) were associated with an 'immune' etiology. Of these, 62.5% (n = 5) had fetal anemia due to anti-D, 25% (n = 2) anti-Kell and 12.5% (n = 1) anti-c antibodies. The remaining 55 cases (87.3%) had a non-immune cause. Eight (14.5%) were due to human parvovirus B19 infection. Fourteen cases (25.5%) were associated with aneuploidy and, in four (7.3%), a primary hydrothorax was the cause of the non-immune hydrops fetalis. A cardiac cause was found in five (9.1%) cases. Three of these had supraventricular tachycardia and one had congenital complete heart block. Cystic hygroma was associated with hydrops fetalis in six cases. Twin-twin transfusion syndrome was the cause for hydrops in two cases. Massive transplacental hemorrhage was identified in one case. Fetal akinesia and muscular dystrophy caused hydrops in one case each. In 14.5% (8/55) of cases no obvious cause was identified and these were classified as 'idiopathic'. Three other cases could not be classified because parents declined investigations (unclassified). In the pregnancies with non-immune hydrops fetalis, the outcome was favorable in 27.3% (15/55) of cases. The prognosis of hydrops fetalis differs markedly between different etiological groups. Etiologies range from treatable causes with a good outcome and probably no long-term side-effects (as in case of parvovirus B19), to others which are incompatible with life or are associated with considerable perinatal morbidity and mortality.

Practical use of Three-Dimensional Imaging in Genetic Counseling: Patient Perception of Usefulness as a counseling tool

Aim: To assess the perceived benefit of 3-Dimensional ultrasound as an additional imaging tool for patients evaluated for abnormal ultrasound findings.Method: Aloka ultrasound system with volume mode surface rendering was offered to patients receiving evaluation at a referral maternal-fetal medicine center. Two-dimensional and three-dimensional images were obtained on all patients. Approximately 4 seconds were required for the three dimensional images to be available for patient and physician review. A follow up survey (by questionnaire) was utilized to determine patients' understanding of their specific indication.Results: Questionnaires were sent to 240 patients with abnormal ultrasound indications including echogenic bowel, renal dysgenesis, echogenic foci, cardiac structural defects, ventral wall defects, cystic hygroma. hydrops, chromosome abnormalities, neural tube defects, choroid plexus cysts, clubfeet and uterine abnormalities. Most patients (90%) strongly agreed that the information received from the 3D exam was beneficial to the visit. Parents also felt that the 3D ultrasound enhanced understanding with a recognizeable image of their baby. This finding was apparent even in pregnancies with severe or lethal outcomes.Conclusion: Ultrasound exams carry both emotional and psychological implications. The new modality of 3-dimensional scanning seems helpful in demonstrating the extent of a specific defect in a way patients understand and appreciate. Our study suggests that 3-dimensional imaging may assist in the standard evaluation of patients requiring genetic consultation for abnormal ultrasound findings.