Omphalocele in the first trimester: prediction of perinatal outcome.

OBJECTIVE: This study aims to evaluate the perinatal outcomes of fetuses with isolated omphalocele diagnosed before 14 weeks of gestation (WG) and determine whether visceral-abdominal disproportion (ratio between mean omphalocele diameter and transverse abdominal diameter) and omphalocele contents can predict neonatal morbidity. METHODS: This is a retrospective cohort study of omphaloceles diagnosed before 14 WG at three tertiary centers between January 1998 and January 2010. In the group of isolated omphaloceles (i.e., euploid and no other malformation), ratio of visceral-abdominal disproportion and omphalocele contents were evaluated as predictors of perinatal morbidity. RESULTS: Among 153 fetal omphaloceles diagnosed before 14 WG, 74 were excluded because of abnormal karyotype or other malformations. Among the 79 isolated fetal omphaloceles, the survival rate at birth was 68% (54/79), with a global morbidity rate of 33% (18/54). Of the live born fetuses, 92.6% (50/54) survived the neonatal period, and 96% (48/50) without long-term sequelae. There was a significant increase in neonatal morbidity when the ratio of disproportion was greater than 0.8 or when the liver was contained in the omphalocele in the first trimester. CONCLUSION: In cases of isolated omphalocele in the first trimester, visceral-abdominal disproportion and omphalocele contents predict perinatal morbidity.

The association of gastroschisis with other congenital anomalies: how important is it?

OBJECTIVE: To report the prevalence of the association between gastroschisis and other anomalies, their prenatal characteristics and the postnatal follow-up. METHOD: Prenatal and postnatal data from all patients with gastroschis prenatally diagnosed between January 1998 and December 2006 were reviewed concerning the presence of associated anomalies. RESULTS: Gastroschisis was prenatally diagnosed in 108 fetuses. Associated anomalies were identified in 14 cases (prevalence of 13.0%), with prenatal diagnosis being made in 5 (35.7%) patients. Postnatal examination revealed the association of other anomalies in nine other newborns not observed during prenatal examinations. Maternal age, parity, gestational age at diagnosis and birth, delivery mode and birth weight were similar in cases with 'isolated gastroschisis' and associated anomalies (p > 0.05). Survival rates in the 'isolated gastroschisis group' and 'associated anomaly group' were 91.5 and 78.6% (p > 0.05), respectively. The median time before oral feeding tended to be longer (but not statistical significantly) in the 'associated anomaly group' (32, range: 5-720 days) compared to the 'isolated gastroschisis group' (22, range: 5-180 days; p = 0.06), but with a significantly longer permanence in neonatal intensive care unit (p = 0.04). CONCLUSION: This study highlights the importance of identifying other anomalies when evaluating fetuses with gastroschisis to permit counselling concerning the postnatal outcomes.

Three-dimensional ultrasonographic measurements of the fetal lungs for prediction of perinatal outcome in isolated congenital diaphragmatic hernia.

AIM: To evaluate the potential of different lung measurements using three-dimensional ultrasonography (3D-US) to predict perinatal outcome in isolated congenital diaphragmatic hernia (CDH). METHODS: Twenty-one fetuses presenting isolated CDH were prospectively evaluated by 3D-US between January 2002 and November 2003. Observed/expected total, contralateral and ipsilateral fetal lung volume ratios (o/e-TotFLV, o/e-ContFLV and o/e-IpsiFLV, respectively) were calculated using the rotational technique and ultrasonographic fetal total lung volume to bodyweight ratio (USFLW). These lung measurements were compared to each other and to perinatal outcomes: perinatal deaths, severe pulmonary hypoplasia (PH) and pulmonary arterial hypertension (PAH). RESULTS: Perinatal death occurred in 11 of the 21 infants (52.4%), severe PH in 14 of 21 infants (66.7%) and PAH in 14 of 20 neonates (70%). Severe PH and PAH occurred simultaneously in 12 of 20 (60%) infants. Good correlations between lung ratios were observed. O/e-TotFLV, o/e-IpsiFLV and USFLW correlated statistically with postnatal diagnosis of severe PH, while only o/e-TotFLH correlated statistically with postnatal diagnosis of PAH. The accuracies of o/e-TotFLV, o/e-ContFLV, o/e-IpsiFLV and USFLW in predicting perinatal deaths were 85.7, 76.2, 66.7 and 76.2%, respectively. CONCLUSION: O/e-TotFLV using 3D-US appears to be the most accurate predictor of perinatal mortality because it can predict both PH and PAH.

Predicting neonatal deaths and pulmonary hypoplasia in isolated congenital diaphragmatic hernia using the sonographic fetal lung volume-body weight ratio.

OBJECTIVE: The objective of our study was to evaluate the potential of the sonographic fetal lung volume-body weight ratio to predict neonatal deaths and pulmonary hypoplasia in fetuses with isolated congenital diaphragmatic hernia (CDH). SUBJECTS AND METHODS: Between January 2002 and December 2004, 40 fetuses with isolated CDH and 450 control subjects were prospectively evaluated in two centers. Fetal lung volumes were estimated on 3D sonography using the rotational technique and fetal weight on 2D sonography using the Hadlock equation. The ratio of sonographic fetal lung volume to body weight was calculated in each case and was correlated with neonatal deaths using the Mann-Whitney U test. Accuracies of the ratio in predicting neonatal deaths and pathologic diagnosis of pulmonary hypoplasia were also evaluated. RESULTS: The ratio of sonographic fetal lung volume to body weight is constant throughout gestation, with a mean value of 0.025. The ratio was significantly lower in neonates that died (median, 0.009; range, 0.004-0.021) than in those that survived (median, 0.011; range, 0.008-0.020) (p = 0.018). Pulmonary hypoplasia was suspected prenatally in 34 of 40 (85.0%) fetuses with CDH, in all cases of death (100%), and in seven of nine (77.8%) neonates that survived. At autopsy, pulmonary hypoplasia was diagnosed in 19 cases (86.4%). Accuracies of the ratio in predicting neonatal deaths and pulmonary hypoplasia were 64.5% (20/31) and 86.4% (19/22), respectively. CONCLUSION: The sonographic fetal lung volume-body weight ratio can be used more accurately to diagnose pulmonary hypoplasia than to predict neonatal deaths in fetuses with isolated CDH. Further studies are necessary to show the prevalence of pulmonary hypoplasia in fetuses with isolated CDH and its importance for predicting neonatal deaths.

Ipsilateral lung volumes assessed by three-dimensional ultrasonography in fetuses with isolated congenital diaphragmatic hernia.

OBJECTIVE: To evaluate the precision of three-dimensional ultrasonography (3DUS) in estimating the ipsilateral lung volume and the potential of this measurement to predict neonatal death in congenital diaphragmatic hernia (CDH). METHODS: Between January 2002 and December 2004, the ipsilateral lung volumes were assessed by 3DUS using the technique of rotation of the multiplan imaging in 39 fetuses with CDH. The observed/expected ipsilateral lung volume ratios (o/e-IpsiFLVR) were compared to the lung/head ratios (LHR) and to the observed/expected total fetal lung volume ratios (o/e-TotFLVR) as well as to postnatal death. RESULTS: Ipsilateral lung volumes (median 0.12, range 0.01-0.66) were more reduced than the total lung volumes (median 0.52, range 0.11-0.95, p < 0.001) in CDH. The bias and precision of 3DUS in estimating ipsilateral lung volumes were -0.61 and 0.99 cm(3), respectively, with absolute limits of agreement from -2.56 to +1.33 cm(3). The o/e-IpsiFLVR was lower in neonatal death cases (median 0.09, range 0.01-0.46) than in survivals (median 0.18, range 0.01-0.66), but this difference was not statistically significance (p > 0.05). The sensitivity, specificity, (positive and negative) predictive values and accuracy of o/e-IpsiFLVR in predicting neonatal death was 52.6% (10/19), 83.3% (10/12), 83.3% (10/12), 52.6% (10/19) and 64.5% (20/31), respectively. CONCLUSION: Although the ipsilateral lung volume can be measured by 3DUS, it cannot be used to predict neonatal death when considering it alone. However, it is important to measure it to calculate the total fetal lung volumes as the o/e-TotFLVR has the best efficacy in predicting neonatal death in isolated CDH.

[MRI and fetal multidetector CT in the diagnosis of fetal malformations]. / Apport de l'IRM et du scanner foetal dans le diagnostic des malformations foetales.

Prenatal imaging has benefitted from rapid technological progress in the last ten years. Ultrasound remains the standard screening method for fetal malformations but can be hindered by the bony structure of the skull. In particular, it can be difficult to distinguish between white and grey matter. MRI is a useful complementary method for detecting brain malformations. In particular, MRI is necessary to detect associated malformations and to obtain a precise diagnosis when ultrasound examination shows ventricular dilation. MRI is taking an increasingly important place in the assessment and prognostication of extracranial malformations such as congenital diaphagmatic hernia. We reviewed 2885 fetal MRI examinations. Fetal computed tomography is gradually replacing plain maternal abdominal radiography. We examined 90 CT films for fetal bone malformations.

Quantitative analysis of fetal pulmonary vasculature by 3-dimensional power Doppler ultrasonography in isolated congenital diaphragmatic hernia.

OBJECTIVE: The purpose of this study was to evaluate the potential of 3-dimensional (3D) power Doppler imaging to predict neonatal outcome and pulmonary arterial hypertension (PAH) in congenital diaphragmatic hernia (CDH). STUDY DESIGN: In this prospective observational study, 3D-power Doppler ultrasonography was performed in 21 cases with isolated CDH between 23 and 33 weeks of gestation and in 58 controls between 20 and 40 weeks. Using the same preestablished settings for all cases, power Doppler was applied to each lung, and fetal lung volumes (FLV) were estimated using the rotational technique. The 3D power Doppler histogram was used to determine the vascular indices, which were plotted against gestational age and compared with neonatal outcome, PAH, gestational age, and FLV. RESULTS: Fetal pulmonary vascular indices showed a constant distribution throughout gestation, being significantly lower in cases with CDH than in controls (P < .001). Among CDH cases, the vascular indices were significantly lower in fetuses who died (P < .05), and in fetuses with neonatal PAH (P < .05). The severity of neonatal PAH was also associated with a progressive reduction in prenatal vascular indices (P < .05). All vascular indices correlated with o/e-FLV, but not with gestational age. CONCLUSION: All vascular indices seem to be constant throughout gestation. In isolated CDH, perinatal outcome and postnatal PAH can be predicted using the vascular indices assessed by 3D power Doppler histogram.

[Vascular Ehlers-Danlos syndrome]. / Syndrome d'Ehlers-Danlos vasculaire.

The vascular type of Ehlers-Danlos syndrome (EDS) is a rare genetic disease transmitted as an autosomal dominant trait. It is distinguished from other forms of EDS by its unstable acrogeric morphotype and by vascular, gastrointestinal, and obstetrical complications. Diagnosis is based on various clinical signs, noninvasive imaging, and on the identification of a mutation of the COL3A1 gene, which provides diagnostic certainty but has a sensitivity of only 61%. When two major diagnostic criteria are present, a genetic test should be proposed, performed and its result presented in a multidisciplinary group. The precautionary principle requires that preventive measures be implemented when the diagnosis is suspected. All artery puncture, surgery, and gastrointestinal and uterine endoscopy are contraindicated, permissible only in life-threatening emergencies. Straining against a closed glottis and all other situations or drugs likely to raise blood pressure must be avoided. Contraception must be discussed to avoid pregnancy during the diagnostic period. Arterial lesions suggestive of the disease include dissecting aneurysms of the internal carotid and iliac arteries and of the anterior visceral branches of the abdominal aorta, fusiform aneurysms of the splenic artery, and early onset nontraumatic direct carotid-cavernous fistulae. Early-onset varicose veins, spontaneous peritonitis or unusually important perineal lesions after giving birth should also attract the physician's attention. Psychological treatment and support of patients and their families is essential, to help them both to live with their disease and to deal with the information and screening issues. The prognosis of Ehlers-Danlos syndrome, vascular type, is grim but there is wide interindividual variability and life expectancy is best among patients receiving regular follow-up. Management by an experienced multidisciplinary team, implementation of drastic prevention measures and, depending on the results of the BBEST study, the possible prescription of beta-blockers should help to reduce the risk of complications and justify hope for a real improvement in prognosis in the near future.

Sensitivity and specificity of prenatal features of physiological shunts to predict neonatal clinical status in transposition of the great arteries.

BACKGROUND: Although prenatal diagnosis of transposition of the great arteries (TGA) reduces neonatal mortality, the preoperative course can be complicated in infants with a restrictive foramen ovale (FO) or a ductus arteriosus (DA) constriction. We sought to determine the specificity and sensitivity of prenatal features of physiological shunts in predicting postnatal clinical status in prenatally diagnosed TGA in babies delivered in a tertiary care center providing all facilities for neonatal urgent care. METHODS AND RESULTS: The outcomes of 130 fetuses with TGA were reviewed over a period of 5.5 years. Restriction of the FO and/or constriction of the DA could be analyzed in 119/130 fetuses at 36+/-2.7 weeks of gestation. Twenty-four out of 119 had at least 1 abnormal shunt (23 FO, 5 DA, and 4 both). Thirteen of 130 neonates had profound hypoxemia (PaO2<25 mm Hg) and metabolic acidosis (pH <7.15) in the first 30 minutes and required immediate balloon atrioseptostomy. Two who had abnormal FO and DA died despite aggressive resuscitation. The specificity and sensitivity of the fetal echo in predicting neonatal emergency were 84% and 54%, respectively. The specificity and sensitivity of a combination of restrictive FO and DA constriction were 100% and 31%, respectively. CONCLUSIONS: Restriction of the FO and/or of the DA has a high specificity to predict the need for emergency neonatal care in fetuses with TGA, but the sensitivity is too low to detect all high-risk fetuses. Exceptional procedures should be considered for fetuses that have a combination of restrictive FO and DA constriction.

Predicting perinatal outcome in isolated congenital diaphragmatic hernia using fetal pulmonary artery diameters.

OBJECTIVE: The aim of the study was to evaluate the potential of fetal pulmonary artery (PA) diameters to predict perinatal death and pulmonary arterial hypertension (PAH) in congenital diaphragmatic hernia (CDH). STUDY DESIGN: In this prospective observational study, observed PA (main, right, and left) diameters were measured at the level of the 3 vessels in 21 fetuses with isolated CDH and in 85 controls at 22 to 36 weeks. The observed/expected (o/e) diameters of the main, contralateral, and ipsilateral PAs were calculated by comparing these measurements with reference values obtained in our previous study and correlated with perinatal death and postnatal PAH. RESULTS: The o/e PA diameters were significantly reduced in fetuses with CDH compared to controls (P < .001) and in fetuses with CDH who died (P < .050). However, there was no significant association between PA diameters and PAH (P >or= .050). CONCLUSIONS: The PA diameters might be useful to predict perinatal death in isolated CDH but not postnatal PAH, suggesting that PA diameters are probably related to the severity of pulmonary hypoplasia.