Prenatal diagnosis of Greig Cephalopolysyndactyly Syndrome. When to suspect it.

Greig Cephalopolysyndactyly Syndrome (GCPS) is a very rare multiple congenital anomaly with an estimated incidence of 1-9:1,000,000 in newborns with principal findings of macrocephaly, ocular hypertelorism, and polysyndactyly (preaxial or mixed preaxial and postaxial). Very few cases of prenatal diagnoses have been reported. The postnatal diagnosis is based on clinical findings and family background. GLI3, the only gene associated with this anomaly, is altered in more than 75% of cases. Deletions over 1 Mb and involving other genes yield severe clinical cases, which are known collectively as Greig Cephalopolysyndactyly-contiguous gene Syndrome. We report a case in which, despite early polydactyly findings on week 16, the diagnosis was established during the third trimester of pregnancy due to the late presentation of other anomalies corresponding to this syndrome.

Feasibility and Accuracy of Early Fetal Echocardiography Performed at 13+0-13+6 Weeks in a Population with Low and High Body Mass Index: a Prospective Study.

PURPOSE: The earlier the detection and diagnosis of congenital heart diseases (CHD), the greater the clinical benefit; however, early fetal cardiac examination can be a challenge. The aim of our study is to demonstrate that the fetal cardiac examination at 13+0-13+6 weeks can be as adequately assessed as the examination performed at 16 weeks in patients with low and high body mass index (BMI). METHODS: The study was a prospective observational cohort study. One hundred pregnant women at low risk of congenital heart anomalies were divided into two groups: 49 women with low BMI (<25) and 51 women with high BMI (≥ 25). A complete fetal cardiac scan was performed on each patient at 13+0-13+6 weeks, via the transvaginal and transabdominal approaches, and at 16 weeks by the transabdominal approach. RESULTS: The examination at 13+0-13+6 weeks was adequately assessed in at least one of the two routes in 97 patients, as opposed to 87 patients at 16 weeks. A significantly higher adequate assessment rate was obtained at 13+0-13+6 weeks than at 16 weeks (p=0.017). The transvaginal approach showed the best resolution of the three examinations in 42% of women with BMI ≥35. No CHD were overlooked. CONCLUSIONS: Early fetal echocardiography is feasible and accurate at 13+0-13+6 weeks. Within patients with high BMI, early fetal echocardiography may be performed two weeks in advance, since it allows visualization of the fetal heart through the transvaginal route with a higher resolution in a large number of women, which is not feasible at 16 weeks.

First-trimester cystic posterior fossa: reference ranges, associated findings, and pregnancy outcomes.

OBJECTIVE: To report reference ranges for fetal cerebral posterior fossa measurements and to describe the sonographic findings, karyotype results, and pregnancy outcomes in fetuses presenting with cystic posterior fossa (CPF) in the first trimester of pregnancy. METHODS: Two groups of patients undergoing first-trimester sonographic screening at 11-13 weeks' gestation were studied. The first (control group) consisted of 253 consecutive fetuses with normal posterior fossa, in which the brainstem (BS), fourth ventricle, cisterna magna, and BS-occipital bone (BS-OB) diameter were prospectively measured and the BS/BS-OB diameter ratio was calculated. The second (study group) consisted of 14 fetuses in which a CPF was detected. Information on sonographic findings, prenatal karyotype results, and pregnancy outcomes was obtained by reviewing ultrasound reports and medical records. The results from the two groups were then compared. RESULTS: In the control group, the size of all posterior fossa structures increased and the BS/BS-OB diameter ratio slightly decreased as the pregnancy progressed. In the study group, the BS diameter did not differ significantly from the measurements obtained in the control group. However, the BS-OB diameter and the fourth ventricle were significantly larger (p < .05 and p < .001, respectively) in the study group than in the control group. Additionally, the cisterna magna was not identified in 13 of the 14 fetuses (93%) in the study group, in comparison to zero out of the 253 fetuses in the control group (p < .001). Finally, the BS/BS-OB diameter ratio was significantly smaller in the study group when compared with the control group (p < .05). Regarding pregnancy outcomes, 12 of the 14 (86%) affected pregnancies underwent elective termination (n = 11) or ended in an early intrauterine demise (n = 1) due to the associated chromosomal abnormalities or structural defects. The two fetuses with isolated CPF had a normal second-trimester scan and resulted in the delivery of healthy newborn infants. CONCLUSIONS: The detection of a CPF in the first trimester is associated with a high rate of chromosomal and structural defects. By using normative data, early sonographic screening and detection of mildly and moderately abnormal cases is possible. Fetuses with isolated CPF require further study with a detailed second-trimester scan. This is essential in order to differentiate cases with poor and good perinatal outcomes. Finally, our data also demonstrate that the main sonographic tool when screening for CPF in the first trimester is the assessment of the fourth ventricle, which is significantly larger in abnormal cases as the result of the wide communication between the fourth ventricle and the cisterna magna.

Características ecocardiográficas de la mesocardia fetal: un corazón diferente / Echocardiographic features of fetal mesocardiac: a different heart

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The solitary median maxillary central incisor (SMMCI) syndrome: Associations, prenatal diagnosis, and outcomes.

Solitary median maxillary central incisor (SMMCI) syndrome is a complex disorder consisting of multiple, developmental defects involving midline structures of the head, which includes the cranial bones, the maxilla, and its container dentition (specifically the central incisor tooth germ), together with other midline structures of the body. SMMCI may appear as an isolated trait or in association with other midline developmental anomalies. We describe the case of a patient with SMMCI. He presented with a solitary median maxillary incisor, short stature, corpus callosum anomalies and a microform of holoprosencephaly (HPE), diabetes insipidus, and neurodevelopmental delay. The diagnosis was performed postnatally based on clinical features, radiological imaging, and a comprehensive genetic study. SMMCI can be diagnosed during the prenatal or neonatal periods or during infancy. Evaluation of the superior maxillary bone is important for prenatal diagnosis. Direct evaluation through bidimensional ultrasound or the use of multiplanar ultrasound or tridimensional reconstruction should be performed in cases of brain or face malformations. Early diagnosis can contribute to improved prenatal assessment and postnatal management.

Fetal hydrometrocolpos and congenital imperforate hymen: Prenatal and postnatal imaging features.

Congenital imperforate hymen is probably the most common obstructive anomaly of the female reproductive tract. The accumulation of fluid in the genital tract leads to a distended uterus and vagina, causing hydrometrocolpos. Prenatal diagnosis of fetal hydrometrocolpos is uncommon, with only 22 cases reported in the literature and only a few cases of prenatal imaging of this condition available to date. The main ultrasound finding is a fetal pelvic mass posterior to the bladder and anterior to the rectum. We present the case of a 37-week female fetus with a fetal pelvic mass detected in a routine obstetric ultrasound examination, and the correlation between the prenatal and postnatal findings.

Echographic features and perinatal outcomes in fetuses with congenital absence of ductus venosus.

INTRODUCTION: The purpose of this study was to describe the echographic features and perinatal outcomes of fetuses with absence of ductus venosus. MATERIAL AND METHODS: Retrospective review of 10 cases with absence of ductus venosus diagnosed by prenatal ultrasonography between January 2014 and February 2016 at a single referral center. Prenatal findings, umbilical shunting type, perinatal outcomes, and autopsy reports were reviewed. RESULTS: A total of 11 491 fetuses underwent a first- and second-trimester screening during the study period. Ten cases of absence of ductus venosus were diagnosed. All of the fetuses presented an extrahepatic shunt: three fetuses from the umbilical vein to the right atrium and the seven remaining fetuses from the umbilical vein to the inferior vena cava. Major structural defects and fetal effusions were detected in six fetuses. There were two cases of chromosomal abnormalities. Five patients underwent legal termination of pregnancy and five decided to carry to term. In two of these, the absence of ductus venosus anomaly was isolated and had a normal outcome. In the remaining three cases, a follow up of the children showed a variety of adverse outcomes. CONCLUSIONS: The absence of ductus venosus is associated with high rates of adverse perinatal outcomes. The prognosis for this group of anomalies depends on the additional findings with targeted ultrasound. This pathology should lead to a detailed anatomical study and affected fetuses should be closely monitored for signs of congestive heart failure.

Resultados perinatales y obstétricos en fetos con translucencia nucal incrementada / Perinatal and obstetric outcomes in fetuses with increased nuchal translucency

El objetivo es analizar los resultados perinatales y obstétricos de las gestaciones en cuya ecografía del primer trimestre se objetivó translucencia nucal incrementada. Obtuvimos 170 translucencias nucales aumentadas (mayor o igual a 3,5 mm), en 62 casos (36,47%) el cariotipo fue normal, en 84 casos (49,41%) fue patológico y en 24 casos (14,11%) no se realizó técnica invasiva. Del total de cariotipos normales (62 casos), 47 gestaciones llegaron a término con parto en nuestro centro y recién nacido normal, dos abortos tras realización de técnica invasiva y hubo diez interrupciones legales del embarazo. Los hallazgos ecográficos encontrados son los siguientes: un caso con megavejiga (2,12%), un caso con onfalocele (2,12%), dos casos de higroma quístico (4,3%), dos hidrops fetales severos, ambos con canal aurícoventricular completo, dos ausencias del hueso nasal (4,3%) y cuatro comunicaciones interventriculares (8,5%). En cuanto al total de translucencia nucal incrementada, 39 casos se correspondieron con trisomía del par 21 (23%), 18 con de trisomía 18 (10,6%), 10 con trisomía 13 (5,9%), 14 con 45XO (8,2%), 1 con 47XXX, (0,7% ), 1 con trisomía 10 (0,7%) y 1 con translocación balanceada 45 XX (t 8;21) (p11;q11)(0,7%). El incremento del grosor de la translucencia nucal entre las 11 y 13 semanas y seis días constituye una expresión fenotípica común de las aneuploidías y una gama de malformaciones fetales y síndromes genéticos. En los fetoseuploides, la prevalencia de las anormalidades fetales y los resultados perinatales adversos aumenta con el incremento de la translucencia nucal (AU)

The objective was to analyze the perinatal and obstetric outcomes of pregnancies, in which increased NT was detected onfirst-trimesterroutine ultrasoundstudy. A total of 170 cases of increased nuchal translucency (equal to or higher than 3.5mm)were detected. Within these cases, 62 (36,47%) had normal karyotype, 84 (49,41%) had aneuplody and 24 (14,11%) were not subjected to invasive techniques. From the group of patients with augmented nuchal translucency and normal karyotype (62), 47 reached full-term delivery at our hospital and the newborns were normal; 2 ended in miscarriage after undergoing an invasive technique, 10 ended in legal termination of pregnancy and 3 did not give birth at our hospital and their data were not available. Ultrasound findings in these patients included: one case of megacystis (2,12%), one case of omphalocele (2,12%), two cases of cystic hygroma (4,3%), two cases of severe hydrops fetalis both with complete AV canal (4,3%), two cases of absent nasal bone (4,3%) and four cases of interventricular communication (IVC) (8,5%). From the total of cases of increased nuchal translucency, 39 corresponded to trisomy-21 (23%); 18 (10,6%) to trisomy-18; 10 to trisomy-13 (5,9%); 14 to Turner’s syndrome (8,2%), 1 to karyotype 47XXX (0,7%); 1 to trisomy-10 (0,7%) and 1 to balanced translocation 45 XX (t 8;21) (p11;q11) (0,7%). Nuchal translucency thickening between weeks 11 and 13+6 days is a common phenotypical manifestation of a neuploidy and a wide range of fetal malformations and genetic syndromes. In euploid fetuses, the prevalence of fetal abnormal findings and adverse perinatal outcome increases with the nuchal translucency value (AU)

Síndrome del espejo asociado a infección por parvovirus B19: la madre refleja lo que le ocurre al feto / Mirror syndrome associated with parvovirus B19 infection: the mother refl ects what occurs in the foetus

Presentamos un caso de un síndrome del espejo causado por infección por parvovirus B19 que se resolvió espontáneamente. El síndrome del espejo es una patología muy poco frecuente, asociada a diferentes causas de hidrops fetal. Se caracteriza por hidrops fetal, edemas maternos y placentomegalia en diferentes grados de manifestación. Realizamos la revisión de 11 casos descritos previamente en la literatura (AU)

We report a case of mirror syndrome caused by parvovirus B19, which resolved spontaneously. Mirror syndrome is a rare condition, associated with different causes of foetal hydrops. The syndrome is characterised by a triad of foetal hydrops, generalized maternal oedema, and placentomegaly of differing severity. We review 11 cases previously reported in the literature (AU)

Prenatal Diagnosis of Cardiac Diverticulum with Pericardial Effusion in the First Trimester of Pregnancy with Resolution after Early Pericardiocentesis.

Cardiac diverticulum is a rare anomaly, which may present in association with pericardial effusion. Only few cases diagnosed during fetal life have been published and only in 12 cases pericardiocentesis was made with good postnatal outcomes in 83% of the cases. In the first trimester of pregnancy only 6 cases were reported. We described the largest series of cases published. We describe a case of cardiac diverticulum complicated with pericardial effusion during the first trimester of pregnancy and resolved by intrauterine pericardiocentesis at 17 weeks of pregnancy. We made a systematic review of the literature with the cases reported of cardiac diverticulum, management, and outcomes.

Transfusión intrauterina. Nuestra experiencia en el Hospital Universitario Materno Infantil de Canarias / Intrauterine transfusion. Experience in Canaries University Hospital Maternity Ward

Objetivo. evaluar los casos de transfusión intravascular intrauterina por anemia fetal realizados en la Unidad de Medicina Fetal del Hospital Universitario Materno Infantil de Canarias. Material y método. estudio descriptivo y prospectivo de los casos diagnosticados de anemia fetal y a los que posteriormente se sometió a transfusión intravascular intrauterina en el período comprendido entre mayo de 2007 y junio de 2009. Resultados. durante ese período se diagnosticaron 7 casos de anemia fetal: 4 de anemia fetal inmune y 3 no inmune. En 2 casos los padres no autorizaron la transfusión. Se realizaron un total de 8 transfusiones intravasculares a los 5 casos restantes, y a 2 de éstos se realizaron transfusiones de forma repetida. Conclusiones. la transfusión intravascular es el método de elección para el tratamiento de la anemia fetal en nuestro medio. Tras iniciarse en el año 2007 el uso de este tratamiento, se ha podido realizar en todos los casos en que se encontraba indicado(AU)

Objectives. to present intrauterine intravascular transfusions cases performed for fetal anaemia in Fetal Medicine Unit of Canaries University Hospital Maternity Ward. Material and method. prospective descriptive study of cases diagnosed of fetal anaemia that were treated with intrauterine transfusion from may 2007 to June 2009. Results. during this period seven cases of fetal anaemia were diagnosed. Four isoimmunization-anaemia and three of non-immune anaemia. Eight intrauterine transfusions were performed in five of cases (in two cases repeated transfusion was required). Two cases did not allow transfusion. Conclusion. blood transfusion through umbilical cord seems to be the best option for fetal anaemia treatment. After first intrauterine transfusion in 2007, all indicated cases were carried out(AU)

Gemelos monoamnióticos discordantes para cardiopatía / Monochorial-monoamniotic twins discordant for congenital heart disease

Presentamos el caso de una gestación monocorial-monoamniótica, con diagnóstico en uno de los gemelos de defecto auriculoventricular completo, truncus arterioso, atresia de arteria pulmonar y dudoso drenaje venoso anómalo. No se encuentran descripciones de casos similares en la literatura. Tras un seguimiento ecográfico detallado, en la semana 32 se realizan la maduración fetal y la cesárea electiva; se obtienen dos recién nacidos de bajo peso pero ambos con test de Apgar y pH arterio-venoso umbilical normales. El primer gemelo, portador de la cardiopatía, tiene una evolución posnatal desfavorable y fallece a los 16 días de vida. La evolución del segundo gemelo es favorable(AU)

We report a case of monochorial-monoamniotic twin pregnancy, with diagnosis of an atrioventricular defect, complete truncus arteriosus, pulmonary artery atresia and doubtful anomalous venous drainage in one of the twins. There are no descriptions of similar cases in the literature. After detailed ultrasound follow-up, fetal maturation and elective cesarean section were performed at 32 weeks. The two neonates had low birth weight but Apgar tests and umbilical arteriovenous pH parameters were normal in both. The first newborn twin was diagnosed with congenital heart disease and showed unfavorable postnatal development, dying at 16 days old. Outcome in the second twin was favorable(AU)

Diagnóstico prenatal de un nefroma mesoblástico congénito / Prenatal diagnosis of congenital mesoblastic nephroma

El nefroma mesoblástico congénito es el tumorrenal más frecuente en neonatos. Presentamosel caso de una masa renal fetal detectadaprenatalmente en una ecografía de rutina, asociadaa un polihidramnios. Los hallazgos ecográficos de lamasa eran sugerentes de un nefroma mesoblástico yel estudio histopatológico confirmó el diagnóstico

Congenital mesoblastic nephroma is the mostcommon kidney tumor in neonates. We reporta case of renal mass detected prenatally in aroutine ultrasonographic examination, associatedwith polyhydramnios. Ultrasonographic featuressuggested mesoblastic nephroma. The diagnosis wasconfirmed by histopathological study

Neumotórax complicado en una gestante a término: tratamiento mediante cesárea y videotoracoscopia simultáneas / Complicated pneumothorax in a term pregnancy. Combined cesarean section and videothoracoscopy

El neumotórax espontáneo es infrecuente durante la gestación. La causa más frecuente está relacionada con la presencia de blebs o bullas en el vértice pulmonar. Los síntomas más comunes son el dolor pleurítico y la disnea y la radiografía de tórax confirma el diagnóstico. El tratamiento de elección es la colocación de un drenaje pleural y la cirugía debería considerarse en los casos de neumotórax recurrente o pérdidas aéreas persistentes. Los factores más controvertidos del tratamiento del neumotórax durante la gestación son el momento de la cirugía y la vía de finalización de la gestación. Presentamos el caso de una gestante que en su tercer trimestre gestacional presentó un neumotórax espontáneo con pérdidas aéreas persistentes y que fue tratada mediante una cesárea electiva y una videotoracoscopia en el mismo acto quirúrgico, de forma satisfactoria. Creemos que una alternativa válida para el tratamiento definitivo del neumotórax complicado en una gestante a término es la extracción fetal y la videotoracoscopia combinadas en el mismo acto quirúrgico a fin de evitar riesgos materno y fetales

Spontaneous pneumothorax rarely occurs during pregnancy. The most common cause is almost always related to the presence of apical blebs or bullae. The most frequent symptoms are chest pain and dyspnea and chest radiography usually confirms the diagnosis. The treatment of choice is insertion of a chest drain and surgery should be considered in recurrent pneumothorax or persistent air leaks. The most controversial issues in spontaneous pneumothorax during pregnancy are the timing of surgery and delivery route. We describe the case of a pregnant patient in the third trimester with spontaneous pneumothorax and persistent air leaks who was successfully treated with combined elective cesarean section and videothoracoscopy in the same intervention. We believe that combined fetal extraction and videothoracoscopy in the same intervention could be a valid alternative for the definitive treatment of complicated spontaneous pneumothorax in full term pregnancies in order to avoid risks to the mother and fetus (AU)

Gestación gemelar bicorial biamniótica con un feto vivo y una mola parcial del otro gemelo / Bichorial bioamniotic twin pregnancy with one live fetus and a partial hydatiform mole

La gestación gemelar con una bolsa con feto vivo y una segunda bolsa con una mola parcial embrionada es un caso extremadamente infrecuente. En nuestro caso se trata de una paciente nulípara, de 22 años de edad, con gestación espontánea, que ingresó en la semana 16 por hiperemesis gravídica resistente al tratamiento habitual. En la ecografía se detectó una gestación gemelar bicorial biamniótica con un primer feto vivo y otro feto sin frecuencia cardíaca con una biometría de 12-13 semanas y una placenta de aspecto molar. Se realizó una biopsia corial que confirmó el diagnóstico. La paciente decidió continuar con el embarazo y fue controlada en la consulta de alto riesgo hasta la semana 38, en que se indujo el parto por elevación de la presión arterial, con buen resultado perinatal. La evolución de la paciente fue favorable y en la actualidad permanece asintomática (AU)

Twin pregnancy with one sac containing a live fetus and a second sac containing a partial embryonic mole is an extremely rare entity. A 22-year-old nulliparous woman was admitted to our hospital at 16 weeks’ gestation due to persistent hyperemesis unresponsive to the usual medication. Ultrasound examination revealed a bichorial biamniotic twin pregnancy with one live fetus and another fetus with absent fetal heart rate and a biometry of 12-13 weeks. The placenta of the second fetus showed signs of diffuse molar changes. The diagnosis was made with chorionic villus sampling biopsy. The patient wanted to continue with the pregnancy and was followed-up as a high risk pregnancy. Labor was induced at 38 weeks’ gestation due to preeclampsia. Outcome was favorable and the patient remains asymptomatic (AU)

Gestación heterotópica espontánea / Spontaneous heterotopic pregnancy

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Diagnóstico prenatal de un caso de atresia yeyunoileal asociado a un quiste mesentérico / Prenatal diagnosis of a case of jejunoileal atresia associated with a mesenteric cyst

La atresia intestinal es la malformación más frecuente de intestino delgado. Presentamos el caso de una paciente gestante del tercer trimestre remitida con 32 semanas de gestación para estudio por sospecha ecográfica de quiste ovárico fetal, asociado a polihidramnios. Se practica estudio ecográfico en el que se detecta una dilatación de asas intestinales de predominio distal, con peristaltismo, con probable diagnóstico de atresia intestinal aislada de localización en el íleon terminal o yeyuno. El diagnóstico se confirmó tras el nacimiento

Intestinal atresia is the most common malformation of the small bowel. We report the case of a patient at 32 weeks of gestation who was referred to the prenatal diagnosis unit for ultrasonographic suspicion of ovarian tumor associated with polyhydramnios. Ultrasonography revealed multiple dilated fluid-filled loops with active peristaltic movements. A provisional diagnosis of jejunoileal atresia was made, which was confirmed after delivery