Emmanuel Spaggiari

Prenatal prediction of pulmonary arterial hypertension in congenital diaphragmatic hernia

To evaluate the role of prenatal prognostic markers obtained routinely by ultrasound examination and magnetic resonance imaging (MRI) in the prediction of development of postnatal pulmonary arterial hypertension (PAH) in isolated congenital diaphragmatic hernia (CDH).

Performance of prenatal diagnosis in esophageal atresia.

The aim of this study was to evaluate the performance of prenatal diagnosis of esophageal atresia (EA) and its associated abnormalities.

Outcome in fetuses with isolated congenital diaphragmatic hernia with increased nuchal translucency thickness in first trimester

To examine the possible association between increased nuchal translucency (NT) thickness in the first trimester and perinatal outcome in isolated congenital diaphragmatic hernia (CDH).

Sequential fetal serum β2-microglobulin to predict postnatal renal function in bilateral or low urinary tract obstruction

Fetal serum β2‐microglobulin has been shown to predict postnatal renal outcome in cases of fetal obstructive uropathy. We assessed the value of serial measurements of fetal serum β2‐microglobulin in the prediction of postnatal renal outcome.

First fetal case of the 8q24.3 contiguous genes syndrome

Molecular cytogenetics, particularly array‐CGH, opened the way to the « genotype first approach » and for the discovery of new micro rearrangement syndromes. This was the case for the 8q24.3 microdeletion syndrome. Here, we describe the phenotype of a fetus with a 8q24.3 deletion. This rare condition has to be considered as a contiguous genes syndrome because its phenotype is generated by the SCRIB and PUF60 adjacent gene endophenotypes. The fetus presented atrioventricular septal defect and hypoplastic aortic arch, facial dysmorphism, microretrognathia, dysmorphic ears, clinodactyly of the 5th digit on both hands, mild rocker bottom feet and abnormal third sacral vertebra. This fetus is the first case where the endophenotype produced by SCRIB gene is absent. This case is compared with the previous published cases.

Pitfall in first‐trimester diagnosis of chorionicity in twin pregnancy

Prenatal diagnosis of chorionicity in twin pregnancy is of paramount importance as it will determine subsequent follow up, and screening for specific complications related to monochorionic pregnancy can be performed. Chorionicity is usually diagnosed at the routine ultrasound scan at 11–14 weeks by examination of the insertion of the interamniotic membrane1. However, some anatomical variants may mislead the sonographer, resulting in an incorrect diagnosis of chorionicity. Here we report a pitfall in the diagnosis of chorionicity in the first trimester of pregnancy. A 36-year-old woman, gravida 4 para 3, with a twin pregnancy was referred to our center for her first-trimester ultrasound scan. Morphological examination of both fetuses was normal and insertion of the interamniotic membrane was characteristic of the lambda sign, suggestive of a dichorionic twin pregnancy (Figure 1a). However, the sonographer (L.J.S.) noted that the echogenicity of the wedge-shaped membrane insertion was slightly different from that of the placental bed. The cord insertion of each fetus was examined (which is routine practice in twin pregnancy at our center) and the cord of one fetus was found to be inserted at the level of the interamniotic membrane insertion. Color Doppler ultrasound confirmed this finding (Figure 1b). The lambda sign was therefore considered a false-positive finding and the pregnancy was managed as a monochorionic diamniotic twin pregnancy. During follow-up, a 20% growth discrepancy was identified from 19 weeks, associated with Doppler anomalies. A Cesarean section was performed at 30 weeks of gestation because of severe selective intrauterine growth restriction with Doppler anomalies (reversed flow in both umbilical arteries). Twin 1 weighed 770 g at birth with Apgar scores of 5, 9 and 10 at 1, 5 and 10 min, respectively, and Twin 2 weighed 1085 g with Apgar scores of 9, 10 and 10 at 1, 5 and 10 min. Pathological examination of the placenta confirmed the insertion of the cord of Twin 1 at the level of the interamniotic membrane insertion (Figure 2a). Histological examination of the interamniotic membrane showed two amniotic sheets joined together with no chorionic tissue present in between (Figure 2b), confirming the monochorionic diagnosis. Diagnosis of chorionicity is now performed routinely at the first-trimester ultrasound scan by visualization of the insertion zone of the interamniotic membranes on the placenta2. This insertion zone appears as a lambda sign in dichorionic twin pregnancy, which corresponds to the extension of placental tissue into the base of the intertwin membrane3. In monochorionic twin pregnancy, this zone appears as a T-sign. Follow up and parental counseling of the pregnancy is determined by the diagnosis of chorionicity in the first trimester, therefore it is essential Figure 1 First-trimester ultrasound images of chorionicity in twin pregnancy. (a) Insertion of interamniotic membrane shows characteristic lambda sign, indicative of dichorionic twin pregnancy. (b) Color Doppler ultrasound identified insertion of cord of one twin into interamniotic membrane, confirming monochorionic twin pregnancy.

Pitfall in the diagnosis of chorionicity in twin pregnancy at first trimester.

Prenatal diagnosis of chorionicity in twin pregnancy is of paramount importance as it will determine subsequent follow up, and screening for specific complications related to monochorionic pregnancy can be performed. Chorionicity is usually diagnosed at the routine ultrasound scan at 11–14 weeks by examination of the insertion of the interamniotic membrane1. However, some anatomical variants may mislead the sonographer, resulting in an incorrect diagnosis of chorionicity. Here we report a pitfall in the diagnosis of chorionicity in the first trimester of pregnancy. A 36-year-old woman, gravida 4 para 3, with a twin pregnancy was referred to our center for her first-trimester ultrasound scan. Morphological examination of both fetuses was normal and insertion of the interamniotic membrane was characteristic of the lambda sign, suggestive of a dichorionic twin pregnancy (Figure 1a). However, the sonographer (L.J.S.) noted that the echogenicity of the wedge-shaped membrane insertion was slightly different from that of the placental bed. The cord insertion of each fetus was examined (which is routine practice in twin pregnancy at our center) and the cord of one fetus was found to be inserted at the level of the interamniotic membrane insertion. Color Doppler ultrasound confirmed this finding (Figure 1b). The lambda sign was therefore considered a false-positive finding and the pregnancy was managed as a monochorionic diamniotic twin pregnancy. During follow-up, a 20% growth discrepancy was identified from 19 weeks, associated with Doppler anomalies. A Cesarean section was performed at 30 weeks of gestation because of severe selective intrauterine growth restriction with Doppler anomalies (reversed flow in both umbilical arteries). Twin 1 weighed 770 g at birth with Apgar scores of 5, 9 and 10 at 1, 5 and 10 min, respectively, and Twin 2 weighed 1085 g with Apgar scores of 9, 10 and 10 at 1, 5 and 10 min. Pathological examination of the placenta confirmed the insertion of the cord of Twin 1 at the level of the interamniotic membrane insertion (Figure 2a). Histological examination of the interamniotic membrane showed two amniotic sheets joined together with no chorionic tissue present in between (Figure 2b), confirming the monochorionic diagnosis. Diagnosis of chorionicity is now performed routinely at the first-trimester ultrasound scan by visualization of the insertion zone of the interamniotic membranes on the placenta2. This insertion zone appears as a lambda sign in dichorionic twin pregnancy, which corresponds to the extension of placental tissue into the base of the intertwin membrane3. In monochorionic twin pregnancy, this zone appears as a T-sign. Follow up and parental counseling of the pregnancy is determined by the diagnosis of chorionicity in the first trimester, therefore it is essential Figure 1 First-trimester ultrasound images of chorionicity in twin pregnancy. (a) Insertion of interamniotic membrane shows characteristic lambda sign, indicative of dichorionic twin pregnancy. (b) Color Doppler ultrasound identified insertion of cord of one twin into interamniotic membrane, confirming monochorionic twin pregnancy.

Comparison of biochemical analysis of fetal serum and fetal urine in the prediction of postnatal renal outcome in lower urinary tract obstruction

To compare the prognostic value of fetal serum biochemistry and fetal urine biochemistry in predicting renal outcome in lower urinary tract obstruction (LUTO).

Contribution of three‐dimensional ultrasound and three‐dimensional helical computer tomography in the prenatal diagnosis of Stickler Syndrome

The Pierre Robin Sequence can be associated with various different syndromes in which Stickler Syndrome is the most frequent. The prenatal diagnosis of this syndrome is rare, however, early diagnosis would aid the antenatal counselling of such couples thereby allowing them to make an informed choice regarding their further management. Consequently, we propose the use of three-dimensional ultrasound and three-dimensional helical computer tomography for suspected cases of Stickler syndrome to complement standard ultrasound to reach the diagnosis. This case illustrates that both 3D-ultrasound and 3D-HCT enhanced our diagnostic capability of a Stickler syndrome phenotype prior to molecular confirmation. This article is protected by copyright. All rights reserved.

OP11.09: Fetal cystoscopy versus vesicoamniotic shunting in lower urinary tract obstruction: Short oral presentation abstracts

Objectives: Open surgery has been performed locally, with several maternal complications such as uterine ruptures or severe prematurity. Some series may be unreported. Instead, fetoscopic correction has claimed its place because of lower maternal risks. We report our local experience supported by the Brazilian team. Methods: Cases are selected with strict MOM‘s trial criteria. Surgery was performed with four trocars and biocellulose patch. The first case was operated by the Brazilian team and the second by the local team, with presence of the supporting team. Results: Two cases are operated. The patients: one primigravidae, the second with one previous Caesarean section. Fetuses had L2-5 lesions, with ventriculomegaly (12 and 19mm) and Arnold Chiari II. Both were operated at 27 weeks of GA. The patch could be placed and the skin closed without tension. Both had rupture of the membranes. The first child was born at 33 weeks, with complete skin closure and normal follow-up until 10 months of age. The hindbrain recovered before delivery, no need of valve, and normal development. The second pregnancy is ongoing, without recovery of the hindbrain, and stable ventriculomegaly, at 33 weeks. The surgery has been safe for fetuses and women. Conclusions: Fetoscopic procedure for MMC repair has been feasible with the support of a more experienced team. The procedure is identical in order to lower complications. One case has satisfactory outcome, the second is ongoing.