Assessing the impact of pregnancy planning on obstetric and perinatal outcomes in women with pregestational diabetes mellitus.

AIMS: We investigated the role of pregnancy planning in improving glycemic control and its potential impact on the overall pregnancy outcomes, obstetric outcomes, and perinatal well-being in women with pregestational diabetes mellitus (PGDM). METHODS: A retrospective observational cohort study was conducted, including all pregnant women with PGDM treated in our center 2012 and 2018. RESULTS: Among 425 participants, 26.6 % had planned pregnancies. The lowest rate of pregnancy planning was observed in women with type 2 diabetes mellitus (6.5 %). Women with planned pregnancies had lower BMI. Both pregestational HbA1c levels (6.66 % vs. 7.61 %, p < 0.001) and HbA1c levels at the first prenatal visit (6.39 % vs. 7.24 %, p < 0.001) were significantly lower in the planned pregnancy group. These differences persisted until the end of pregnancy (6.09 % vs. 6.47 %, p = 0.006). Although better glycemic control was associated with a non-significant decrease in fetuses with birth weight over 4000 g (18.1 % vs. 22.1 %) and 4500 g (3.0 % vs. 4.2 %), we did not find significant effects on other morbidity events, maternal outcomes, or the cesarean section rate. CONCLUSIONS: Pregnancy planning in PGDM women improved glycemic control and HbA1c levels. Limited impact on obstetric and perinatal outcomes suggests scope for other focused interventions to optimize maternal and fetal health.

Long-Term Neurodevelopmental Outcome After Selective Fetoscopic Laser Therapy for Stage I Twin-Twin Transfusion Syndrome.

Twin-twin transfusion syndrome (TTTS) is a serious complication in monochorionic (MC) pregnancies. Fetoscopic laser surgery (FLS) is the primary treatment for advanced TTTS, but managing Quintero stage I TTTS is still controversial. We conducted an observational study evaluating the 2-year neurodevelopment of fetuses, which underwent FLS for stage I TTTS, compared with advanced TTTS and uncomplicated monochorionic diamniotic twins (MCDTs). The study included 156 children: 14 in stage I TTTS group, 28 in advanced TTTS group, and 114 in uncomplicated twin group. In stage I TTTS, 92.9% showed normal neurodevelopment, with no severe neurological impairments observed. These results were comparable with uncomplicated twins (92.1% normal neurodevelopment, P = .921, adjusted odds ratio [aOR] = 1.56, 95% confidence interval [CI] = 0.42-5.79; 1.8% severe impairment, P = .617). Advanced TTTS had a non-significant lower rate of normal neurodevelopment (89.3%, P = .710, aOR = 1.31, 95% CI = 0.12-14.87). In conclusion, FLS for stage I TTTS shows favorable long-term neurodevelopmental outcomes, similar to uncomplicated MC pregnancies.

Maternal and obstetric outcomes after Ex-Utero Intrapartum Treatment (EXIT): a single center experience.

BACKGROUND: The Ex-utero Intrapartum Treatment (EXIT) is a procedure developed to manage a range of fetal conditions, aiming to ensure the maintenance of neonatal airway and preserving the feto-placental circulation. Its goal is to enhance the neonatal ability to successfully transition and adapt to postnatal life, thereby reducing perinatal morbidity and mortality. However, EXIT has been associated with a high risk of maternal complications. This paper provides an overview of the indications and characteristics of the EXIT procedure, as well as the obstetric outcomes and maternal complications. METHODS: A retrospective analysis was conducted on a cohort of patients undergoing EXIT at our center between January 2007 and December 2022. Maternal outcomes, including demographic information, data related to the surgical procedure, surgical complications, and postoperative complications were analyzed. To assess the severity of the surgical complications, a modified Clavien-Dindo classification was used. Comparative analysis was performed by randomly selecting a sample from elective cesarean deliveries performed at our center. RESULTS: A total of 34 EXIT procedures were performed. According to the modified Clavien-Dindo classification, we observed no major complications, while minor maternal complications were present in 2.94% of cases. Compared to elective cesarean deliveries (n = 350), there were no significant differences in terms of maternal complications, highlighting the similarity observed in the mean decrease in postoperative hemoglobin (1.15 g/dL in EXIT vs. 1.2 g/dL in elective cesarean deliveries, p = 0.94). In EXIT group, there was a higher rate of polyhydramnios (26.47% vs 6.59%, p < 0.001), as well as the need for amnioreduction (14.71% vs 0%, p = 0.001) and preterm delivery (32.35% vs 6.02%, p = 0.001). There were no cases of endometritis, post-procedural fever, or abruptio placentae following EXIT. CONCLUSIONS: EXIT can be considered a safe procedure when performed under adequate conditions, including appropriate uterine access and proper anesthetic management. In our series, EXIT procedure was not associated with a higher incidence of maternal complications when compared to elective cesarean delivery. TRIAL REGISTRATION: Retrospectively registered.

Maternal and Neonatal Outcomes After Ex-Utero Intrapartum Treatment for Congenital Diaphragmatic Hernia: A Case Series.

INTRODUCTION: Despite advances in neonatal intensive care, fetuses with congenital diaphragmatic hernia (CDH) remain to have a poor prognosis. Exclusive postnatal treatment is inadequate in patients with moderate CDH (observed than expected lung-to-head ratio [O/E LHR] 26-45%) and can lead to respiratory failure at birth, requiring extracorporeal membrane oxygenation in 75% of cases. An ex-utero intrapartum treatment (EXIT) procedure may be beneficial in these cases, improving the fetal-neonatal transition. MATERIAL AND METHODS: We review all pregnancies with fetal isolated left CDH with moderate O/E LHR delivered by EXIT in our center from January 2007 to December 2022. Maternal and neonatal variables were analyzed. As primary outcomes, we included neonatal survival and mortality rates, surgical and infectious complications, uterine scar dehiscence, and blood loss during EXIT. As secondary outcomes, we studied recurrences of the diaphragmatic defect, long-term evolution, subsequent pregnancies, and mode of delivery. RESULTS: A total of 14 patients were delivered by the EXIT procedure, with a neonatal survival rate of 85.7%. All these children had optimal physical and neurocognitive development and no pulmonary morbidity. We found no major complications and 7.1% of minor maternal complications. There were no cases of surgical wound infection or endometritis. The median decrease in hemoglobin during the EXIT procedure was 1.9 mg/dL, and only one case required postoperative transfusion. Two out of the 14 women became pregnant again, and both pregnancies were uneventful. CONCLUSIONS: In our series, the EXIT procedure allows for adequate airway management associated with a high neonatal survival rate in patients with moderate O/E LHR CDH, with a low rate of neonatal and maternal complications.

Two Year Neurodevelopmental Outcome after Fetoscopic Laser Therapy for Twin-Twin Transfusion Syndrome: Comparison with Uncomplicated Monochorionic Diamniotic Twins.

BACKGROUND: Twin-twin Transfusion Syndrome (TTTS) represents a significant complication in monochorionic twin pregnancies, caused by an unbalanced shunting of blood through intertwin placental vascular anastomoses. Despite advances in fetoscopic laser surgery, TTTS is still associated with a high rate of cerebral injury. However, there are no studies comparing these pregnancies with uncomplicated monochorionic diamniotic (MCDA) twin pregnancies, establishing the baseline risk of neurodevelopmental impairment. The aim of this study is to evaluate the odds of neurodevelopmental impairment in MCDA twins who undergo fetoscopic laser surgery for twin-twin transfusion syndrome, in comparison to a cohort of uncomplicated MCDA twin pregnancies. STUDY DESIGN: This is a retrospective cohort study of children born from MCDA twin pregnancies at a single center between 2008 and 2019. A routine, standardized follow-up assessment was conducted at a minimum of 2 years after delivery. The primary outcome of this was a 2 year neurodevelopmental impairment. Neurological, motor, and cognitive development was assessed by using the revised Brunet-Lézine scale. RESULTS: 176 children met the enrolment criteria. Of these, 42 (24%; TTTS group) underwent fetoscopic laser surgery for TTTS during pregnancy, and 134 (76%; uncomplicated MCDA group) were uncomplicated MCDA pregnancies. The primary outcome was found in four children (9.52%) in the TTTS group and ten children (7.46%) in the uncomplicated MCDA group (p = 0.67, aOR 2.82, 95% CI 0.49-16.23). Major neurologic impairment was found in 2.38% after fetoscopic laser surgery and 1.49% in uncomplicated MCDA twins (p = 0.70, aOR 0.97, 95% CI 0.22-4.24). The data were adjusted by birth order, birth weight, and gestational age at birth. CONCLUSIONS: The outcome in MCDA twins who underwent fetoscopic laser surgery for TTTS is comparable to the outcome in uncomplicated MCDA twins. Our findings emphasize the need for long-term neurodevelopmental follow-ups in all children from monochorionic twin gestations.

Prenatal diagnosis of VACTERL association after early-first trimester SARS-COV-2 infection.

Organogenesis is a period of fetal development with a special vulnerability to biological and environmental agents. There are some viral infections whose transmission in the first trimester carries a significant risk for the development of congenital anomalies. Although the possibility of vertical transmission of SARS-CoV-2 during pregnancy has been demonstrated, there are no studies evaluating the impact of SARS-CoV-2 infection in the first trimester and its possible association with congenital anomalies. In this communication, we present the case of a pregnant woman with early SARS-CoV-2 infection, prenatally diagnosed with fetal VACTERL association by mid-trimester ultrasound. Further studies are needed to determine the causal association.

Mode of delivery, perinatal outcome and neurodevelopment in uncomplicated monochorionic diamniotic twins: a single-center retrospective cohort study.

BACKGROUND: There is no agreement on the effect of planned mode of delivery in the perinatal morbidity and neurodevelopment in uncomplicated monochorionic diamniotic as well as regarding the safest mode of delivery. In this paper we have aimed to analyze the impact of the mode of delivery in uncomplicated monochorionic diamniotic twins ≥ 32 weeks of gestation. MATERIAL AND METHODS: This study included 72 women, followed and attended at our department, with uncomplicated monochorionic diamniotic pregnancies who had a birth between 32.0 and 37.6 weeks of gestation from January 2012 to December 2018. Outcomes were recorded in women who underwent planned vaginal delivery (induced or spontaneous onset of labor), and women who underwent a planned cesarean section for any reason that excluded vaginal delivery. Primary outcomes included: (1) A composite of any of the following: neonatal death, 5-min Apgar score < 4, respiratory distress syndrome, bronchopulmonary dysplasia, sepsis, periventricular leukomalacia, intraventricular hemorrhage, and necrotizing enterocolitis. (2) Neurodevelopmental status at 2 years of corrected age. RESULTS: In this period, 42 women (58.3%) had a planned vaginal delivery, and 30 women (41.7%) had a planned cesarean section. In the first group, 64.3% had a vaginal delivery. The rate of successful vaginal delivery was similar regardless the onset of labor. We did not find a higher composite perinatal morbidity in the planned vaginal delivery group (planned vaginal delivery: 3.6% vs. planned cesarean section: 8.3%, aOR 1.36, 95% CI 0.24-7.81). Considering the onset of labor, it was more frequent in the spontaneous subgroup (8.3% vs. 0%). The rate of neurodevelopmental impairment was higher in the planned cesarean section group, without reaching statistical significance [10.2% vs. 4.9%, aOR 1.53 (95% CI 0.37-6.29)]. CONCLUSIONS: In uncomplicated monochorionic diamniotic twins at ≥ 32 weeks of gestation, when the first twin is in vertex presentation, our results suggest that planned vaginal delivery is safe, with a successful outcome as well as high vaginal delivery rate.

Antenatal diagnosis of jejunal atresia by 3D HDlive ultrasound: Case report and literature review / Diagnóstico prenatal de atresia de yeyuno con ecografía 3D con reconstrucción en superficie (HDlive): reporte de caso y revisión de la literatura

Objectives: To report the case of a patient with a prenatal diagnosis of jejunal atresia and to review the literature regarding the results and prenatal diagnosis of this entity, implementing the use of non-conventional methods (3D ultrasound or magnetic resonance imaging). Material and methods: Report of a case of an 18-year-old pregnant woman referred to the Maternal-Fetal Medicine, Genetics and Reproduction Unit of the Virgen del Rocío Hospital in Seville due to fetus with abdominal peristaltic cystic image, consistent with jejunal atresia, confirmed with 3D HDLive mode ultrasound. A bibliographic search was carried out in Medline/PubMed, Google Scholar and LILACS, restricting by type of language (English and Spanish) and date of publication (January 1995 to June 2020). Primary studies of reports and case series relating to the outcome and prenatal diagnosis of this pathology were included. Results: The search identified 1,033 titles, of which four studies met the inclusion criteria, these being reports or case series. A total of twelve fetuses with a prenatal diagnosis of jejunal atresia detected with unconventional methods were reported. In all cases, the prenatal diagnosis was confirmed during the neonatal period, which required resection of the compromised segment; one of them died and two neonates developed short bowel syndrome because of a wide bowel resection. The postoperative course in the remaining cases was favorable. Conclusion: The available literature on the prenatal diagnosis of jejunal atresia using non-conventional methods is scarce and is limited to case reports or case series. The literature reviewed suggests that, in the presence of intestinal dilation, 3D ultrasound and magnetic resonance imaging could be of some use in characterizing the atretic portion and establishing the differential diagnosis. More studies are required to evaluate the diagnostic utility of these two alternatives.

Objetivos: reportar el caso de una paciente con diagnóstico prenatal de atresia de yeyuno y hacer una revisión de la literatura en torno al resultado y al diagnóstico de esta entidad, implementando el uso de métodos no convencionales: ecografía tridimensional (3D) o resonancia magnética fetal (RM). Materiales y métodos: se reporta el caso de una gestante de 18 años, remitida a la Unidad de Medicina Materno-Fetal, Genética y Reproducción del Hospital Virgen del Rocío de Sevilla (España), por feto con imagen quística abdominal, peristáltica, compatible con atresia de yeyuno, la cual se confirmó con ecografía 3D modo HDlive. Se realizó una búsqueda bibliográfica en Medline/PubMed, LILACS y Google Scholar, restringiendo por tipo de idioma (inglés y español) y fecha de publicación (enero de 1995 a junio de 2020). Se incluyeron estudios primarios de reportes y series de caso, que abordaran el resultado y el diagnóstico prenatal de esta patología. Resultados: la búsqueda identificó 1.033 títulos, de los cuales cuatro estudios cumplieron con los criterios de inclusión, estos fueron reporte o series de casos. En total se reportaron doce fetos con diagnóstico prenatal de atresia de yeyuno detectada con métodos no convencionales. Una gestación finalizó con óbito a la semana 26 de gestación y en todos los demás casos, el diagnóstico se ratificó durante el periodo neonatal, requiriendo la resección del segmento comprometido. Dos neonatos desarrollaron síndrome de intestino corto como consecuencia de una resección intestinal amplia. El resto experimentó una evolución posoperatoria favorable. Conclusión: la literatura disponible en torno al diagnóstico prenatal de atresia de yeyuno utilizando métodos no convencionales es escasa y se limita a reporte o series de casos. La literatura revisada sugiere que, en presencia de dilatación intestinal, la ecografía 3D y la resonancia magnética fetal podrían tener cierta utilidad a la hora de caracterizar la porción atrésica y establecer el diagnóstico diferencial. Se requieren más estudios que evalúen la utilidad diagnóstica de estas dos alternativas.

Diagnóstico prenatal de atresia de yeyuno con ecografía 3D con reconstrucción en superficie (HDlive): reporte de caso y revisión de la literatura / Antenatal diagnosis of jejunal atresia by 3D HDlive ultrasound: Case report and literature review

Resumen Objetivos: Reportar el caso de una paciente con diagnóstico prenatal de atresia de yeyuno y hacer una revisión de la literatura en torno al resultado y al diagnóstico de esta entidad, implementando el uso de métodos no convencionales: ecografía tridimensional (3D) o resonancia magnética fetal (RM). Materiales y métodos: Se reporta el caso de una gestante de 18 años, remitida a la Unidad de Medicina Materno-Fetal, Genética y Reproducción del Hospital Virgen del Rocío de Sevilla (España), por feto con imagen quística abdominal, peristáltica, compatible con atresia de yeyuno, la cual se confirmó con ecografía 3D modo HDlive. Se realizó una búsqueda bibliográfica en Medline/PubMed, LILACS y Google Scholar, restringiendo por tipo de idioma (inglés y español) y fecha de publicación (enero de 1995 a junio de 2020). Se incluyeron estudios primarios de reportes y series de caso, que abordaran el resultado y el diagnóstico prenatal de esta patología. Resultados: La búsqueda identificó 1.033 títulos, de los cuales cuatro estudios cumplieron con los criterios de inclusión, estos fueron reporte o series de casos. En total se reportaron doce fetos con diagnóstico prenatal de atresia de yeyuno detectada con métodos no convencionales. Una gestación finalizó con óbito a la semana 26 de gestación y en todos los demás casos, el diagnóstico se ratificó durante el periodo neonatal, requiriendo la resección del segmento comprometido. Dos neonatos desarrollaron síndrome de intestino corto como consecuencia de una resección intestinal amplia. El resto experimentó una evolución posoperatoria favorable. Conclusión: La literatura disponible en torno al diagnóstico prenatal de atresia de yeyuno utilizando métodos no convencionales es escasa y se limita a reporte o series de casos. La literatura revisada sugiere que, en presencia de dilatación intestinal, la ecografía 3D y la resonancia magnética fetal podrían tener cierta utilidad a la hora de caracterizar la porción atrésica y establecer el diagnóstico diferencial. Se requieren más estudios que evalúen la utilidad diagnóstica de estas dos alternativas.

Abstract Objectives: To report the case of a patient with a prenatal diagnosis of jejunal atresia and to review the literature regarding the results and prenatal diagnosis of this entity, implementing the use of non-conventional methods (3D ultrasound or magnetic resonance imaging). Material and methods: Report of a case of an 18-year-old pregnant woman referred to the Maternal-Fetal Medicine, Genetics and Reproduction Unit of the Virgen del Rocío Hospital in Seville due to fetus with abdominal peristaltic cystic image, consistent with jejunal atresia, confirmed with 3D HDLive mode ultrasound. A bibliographic search was carried out in Medline/PubMed, Google Scholar and LILACS, restricting by type of language (English and Spanish) and date of publication (January 1995 to June 2020). Primary studies of reports and case series relating to the outcome and prenatal diagnosis of this pathology were included. Results: The search identified 1,033 titles, of which four studies met the inclusion criteria, these being reports or case series. A total of twelve fetuses with a prenatal diagnosis of jejunal atresia detected with unconventional methods were reported. In all cases, the prenatal diagnosis was confirmed during the neonatal period, which required resection of the compromised segment; one of them died and two neonates developed short bowel syndrome because of a wide bowel resection. The postoperative course in the remaining cases was favorable. Conclusion: The available literature on the prenatal diagnosis of jejunal atresia using non-conventional methods is scarce and is limited to case reports or case series. The literature reviewed suggests that, in the presence of intestinal dilation, 3D ultrasound and magnetic resonance imaging could be of some use in characterizing the atretic portion and establishing the differential diagnosis. More studies are required to evaluate the diagnostic utility of these two alternatives.

Maternal effects induced by oral digoxin during treatment of fetal tachyarrhythmia: Case series and literature review.

OBJECTIVES: The aim of this study is to evaluate the prevalence of maternal complications derived from digoxin treatment and its relationship with digoxinemia, as well as its occurrence in relation to the different treatment doses and therapeutic schemes used. STUDY DESIGN: This is a retrospective observational study of women who received digoxin for the treatment of fetal tachyarrhythmia over a 10-year period at the University Hospital Virgen del Rocío (Seville). Data corresponding to the digoxin dose, its duration, serum digoxin levels and electrocardiographic parameters during follow-up were collected. Maternal side effects were reported, and its relationship to the treatment dose as well as digoxinemia. The study is accompanied by a narrative review of related literature. RESULTS: There were 10 cases eligible. During treatment, as least one symptom or sign was present in 30 % of cases, being in all cases digestive symptoms. In all those cases, the digoxin level was higher than established as therapeutic threshold (2 ng/mL), and all reversed within a maximum of 48 h after the dose decrease. Digoxinemia overdosing (> 2 ng/mL) was observed in 6 women (60 %), one of which reached the toxicity range (> 3 ng/mL). In all cases, normal range was achieved decreasing the dose of digoxin 0.25 mg every 24 h. No patient developed side effects with digoxinemia below 2 ng/mL. No electrocardiographic abnormalities appeared during treatment. CONCLUSION: Digoxin is a safe treatment for management of fetal tachyarrhythmias. Side effects appear frequently when serum digoxin level is over 2 ng/mL, but they are usually mild and self-limited. However, it remains advisable to monitor electrocardiographic changes and digoxinemia through the whole therapy to prevent serious complications related to digoxin toxicity.

Ex-Utero Intrapartum Treatment (EXIT): indications and outcome in fetal cervical and oropharyngeal masses.

BACKGROUND: The "Ex-Utero Intrapartum Treatment" (EXIT) procedure allows to ensure fetal airway before completion of delivery and umbilical cord clamping while keeping uteroplacental circulation. Airway obstruction in fetal oropharyngeal and cervical masses can be life-threatening at birth. In those situations, controlled access to fetal airway performed by a trained multidisciplinary team allows safe airway management, while feto-maternal circulation is preserved. We aim to review the indications and outcome of the EXIT procedure in a case series of fetal cervical and oropharyngeal masses. METHODS: We have carried out a retrospective review of all patients with fetal cervical and oropharyngeal masses who underwent an EXIT procedure between 2008 and 2019. Variables evaluated included indication for EXIT, ultrasound and MRI findings, the need of amnioreduction, gestational age at EXIT, birth weight, complications, operative time, survival rate, pathological findings, and postnatal evolution. Five patients are included in this series. One additional case has already been published. RESULTS: The diagnosis were cervical teratoma (n = 1), epulis (n = 1) and lymphangioma (n = 3). Polyhydramnios was present in 2 patients, requiring amnioreduction in one of them. Mean gestational age at EXIT was 36-37 weeks (range, 34-38 weeks). Median EXIT time in placental support was 9 min (range, 3-22 min). Access to airway was successfully established in EXIT in all cases. All children born by EXIT are currently healthy and without complications. CONCLUSION: The localization and characteristics of the mass, its relationship to the airway, and the presence of polyhydramnios seem to be major factors determining indications for EXIT and clinical outcome.

Resolution of maternal Mirror syndrome after succesful fetal intrauterine therapy: a case series.

BACKGROUND: Mirror syndrome (MS) is a rare obstetric condition usually defined as the development of maternal edema in association with fetal hydrops. The pathogenesis of MS remains unclear and may be misdiagnosed as pre-eclampsia. CASE PRESENTATION: We report a case series of MS in which fetal therapy (intrauterine blood transfusion and pleuroamniotic shunt) resulted in fetal as well as maternal favourable course with complete resolution of the condition in both mother and fetus. CONCLUSIONS: Our case series add new evidence to support that early diagnosis of MS followed by fetal therapy and clinical maternal support are critical for a good outcome.

Ultrasound, Echocardiography, MRI, and Genetic Analysis of a Fetus with Congenital Diaphragmatic Hernia and Partial 11q Trisomy.

Congenital diaphragmatic hernia (CDH) is a serious birth defect with a significant mortality and morbidity. The current and constant progress in ultrasound techniques has led to the improvement of the prenatal diagnosis of this malformation. CDH is a developmental defect whose etiology is heterogeneous and takes place when the pleuroperitoneal folds and septum transversum fail to converge and fuse. Survival depends on the extent of pulmonary hypoplasia and the disease may be potentially worsened by the presence of added congenital defects. 40% of CDH cases are associated with at least one additional anomaly. The ultrasound diagnosis is established with essential signs: loss of uniform echogenicity of lungs and marked mediastinal shift. We report the case of a fetus with isolated CDH diagnosed at 21 weeks of gestation by ultrasound and confirmed by RMI, whose genetic analysis of amniotic fluid cells identified a de novo partial trisomy of the long arm of chromosome 11. Different genetic causes have been associated with CDH. Moreover, it is expectable that the use of new techniques for prenatal diagnosis will reveal novel CNVs associated with CDH and will help us to estimate the recurrence risk for this defect as well as for other associated anomalies.

Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations.

Monosomy 10p is a rare chromosomal disorder with a prevalence <1/1,000,000, in which a terminal or interstitial distal region of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. Two main phenotypes have been defined depending on the location of the deletion: HDR syndrome (Hypoparathyroidism, sensorineural Deafness, and Renal disease), and DGS2 (DiGeorge syndrome type 2). The vast majority of cases reported so far have resulted from de novo events. Here, we present the first familial presentation of this contiguous gene deletion syndrome, affecting two family members in different generations: a child and his maternal uncle. In both cases, the deletion was due to a malsegregation of a maternal balanced rearrangement, ins(16;10)(q22;p13p15.2). The identification and characterization of this rearrangement was possible using a combination of different genetic analyses such as karyotype, MLPA, FISH, and array CGH. We underline the importance of the present results in terms of genetic and reproductive counseling for the carriers of the balanced rearrangement within the family, and demonstrate again the utility of expanding the genetic studies to the relatives of the affected patients.

EXIT procedure in twin pregnancy: a series of three cases from a single center.

BACKGROUND: Indications for the ex utero intrapartum therapy (EXIT) procedure have evolved and nowadays in addition to secure the airway, obtain vascular access, administer surfactant and other resuscitation medications, EXIT is used to resect cervical or thoracic masses, for extracorporeal membrane circulation (ECMO) cannulation, as well as to rescue maximum intra-thoracic space for ventilation of the remaining functional lung tissue or in cases in which resuscitation of the neonate may be compromised. EXIT procedure in twin pregnancy has been rarely reported and some doubts have been raised about its strategy and safety in such cases. METHODS: We reviewed the medical records of 3 twin pregnancy cases where the EXIT procedure have been performed in our center. RESULTS: The mean gestational age at EXIT procedure was 34 + 4 weeks. In two out the three EXIT procedures, the affected twin was delivered first. The average time on placental bypass was 9 minutes. There were no fetal or maternal complications related to the EXIT procedure. All newborns are currently doing well. CONCLUSION: In twin pregnancies, prenatal diagnosis combined with the EXIT procedure permits the formulation of a controlled delivery strategy to secure both newborns outcome. In those pregnancies, if intervention can be accomplished without compromise of the normal twin, EXIT can be considered. Our results support that EXIT procedure, if properly planned, safely provides a good outcome for both the fetuses as well as the mother.

Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and Outcome.

A case of prenatally diagnosed fetal hypertrophic cardiomyopathy is reported. The mother was referred to our department at 37 weeks' gestation because of suspected congenital heart disease. Prenatal echocardiography showed biventricular hypertrophy and pericardial effusion, without additional abnormalities. Postnatal echocardiography confirmed prenatal diagnosis. Neonatal EKG showed biventricular hypertrophy and Wolff-Parkinson-White syndrome. Skeletal muscle biopsy was consistent with mitochondrial oxidative phosphorylation defect involving a combined defect of respiratory complexes I and IV. Echocardiographic followup during the first year of life showed progressive regression of hypertrophy and evolution to left ventricular myocardial noncompaction.