Prenatal Diagnosis of Robin Sequence: Sensitivity, Specificity, and Clinical Relevance of an Index for Micrognathia

Objective: Micrognathia in connection with glossoptosis (called Robin sequence) may lead to life-threatening respiratory problems immediately after birth. An objective detection during prenatal routine ultrasound sonography is possible using an index that relates fetal lower jaw length to femur length or gestational age. The aim of this study was to test the method's sensitivity and specificity and to discuss its predictive power concerning neonatal respiratory insufficiency. Design: Patients with subjectively identified suspicious signs in the sagittal profile view were included in the study: Two-dimensional serial ultrasound scans of their fetal mandible were used to measure the lower jaw lengths and compare them to predicted values according to an index, derived from 313 healthy fetuses. Follow-up data provided additional information on the clinical appearance of the newborns. Results: The index showed a high sensitivity: 15 of the 16 cases with a micrognathia were correctly diagnosed (sensitivity of 93.75%). Follow-up data showed that newborns with similar index values differed in terms of their upper airway obstruction and treatment need. Conclusion: Fetal mandibular micrognathia can be objectively evaluated with the help of the index. The method allows an early detection of micrognathia, which helps to take the necessary steps for proper treatment of potential life-threatening respiratory impairment. Observations ranging outside the prediction interval could prompt the ultrasonographer to check for other associated malformations

Ebstein's Anomaly of the Tricuspid Valve in the Fetus A Multicenter Experience

Purpose To assess the spectrum of associated anomalies, the intrauterine course, the outcome and possible prognostic markers in prenatally diagnosed Ebstein's anomaly (EA). Materials and Methods All cases of EA diagnosed over a period of 13 years with a minimum follow-up of 1 year were retrospectively collected in 4 tertiary referral centers in Germany. Results In the study period 76 cases of EA were prenatally diagnosed. The mean gestational age at diagnosis was 25.0 weeks (range: 13 -35). 41 (53.9 %) cases were isolated and 35 (46.1 %) had other cardiac and/or extracardiac anomalies. 19 (25.0 %) pregnant women opted for termination of pregnancy, intrauterine fetal death occurred in 7 cases (9.2 %), neonatal death in 14 cases (18.4 %), death in infancy or childhood in 9 cases (11.8 %) and 27 children (35.5 %) were alive at the last follow-up. After exclusion of terminations, the only parameter inversely correlated with intrauterine survival was hydrops fetalis. Prognostic parameters significantly associated with postnatal non-survival were an abnormal Celermajer index (right atrium/heart ratio > 0.7), cardiomegaly (cardiothoracic circumference ratio > 0.5), absence of antegrade flow over the pulmonary valve and earlier diagnosis in pregnancy. Conclusion Prenatally diagnosed EA has a high morbidity and mortality with the highest loss rate in the intrauterine and neonatal period. In our study, hydrops fetalis was the only parameter significantly associated with intrauterine demise, while other prenatal markers were only significantly associated with postnatal mortality

Natural history of pulmonary atresia with intact ventricular septum (PAIVS) and critical pulmonary stenosis (CPS) and prediction of outcome

Objectives!#!To analyse prenatal parameters predicting biventricular (BV) outcome in pulmonary atresia with intact ventricular septum/critical pulmonary stenosis (PAIVS/CPS).!##!Methods!#!We evaluated 82 foetuses from 01/08 to 10/18 in 3 centres in intervals 1 (< 24 weeks), 2 (24-30 weeks) and 3 (> 30 weeks).!##!Results!#!61/82 (74.4%) were livebirths, 5 (8.2%) lost for follow-up, 3 (4.9%) had compassionate care leaving 53 (64.6% of the whole cohort and 86.9% of livebirths) with intention to treat. 9 died, 44/53 (83.0%) survived. 24/38 (63.2%) with information on postnatal outcome had BV outcome, 14 (36.8%) non-BV outcome (2 × 1.5 circulation). One with BV outcome had prenatal valvuloplasty. Best single parameter for BV outcome was tricuspid/mitral valve (TV/MV) ratio (AUC 0.93) in intervals 2 and 3 (AUC 0.92). Ventriculo-coronary-arterial communications (VCAC) were present in 11 (78.6%) in non-BV outcome group vs. 2 (8.3%) in BV outcome group (p < 0.001). Tricuspid insufficiency (TI)-Vmax > 2.5 m/s was present in BV outcome group in75.0% (18/24) vs. 14.3% (2/14) in non-BV outcome group. Including the most predictive markers (VCAC presence, TI- Vmax  < 2.5 m/s, TV/MV ratio < cutoff) to a score, non-BV outcome was correctly predicted when > 1 criterion was fulfilled in all cases. After recently published criteria for foetal intervention, only 4/9 (44.4%) and 5/14 (35.7%) in our interval 2 + 3 with predicted non-BV outcome would have been candidates for intervention. Two (1 × intrauterine intervention) in interval 2, two in interval 3 reached BV outcome and one 1.5 circulation without intervention.!##!Conclusion!#!TV/MV ratio as simple parameter has high predictive value. After our score, non-BV outcome was correctly predicted in all cases. Criteria for foetal intervention must further be evaluated

Absent pulmonary valve syndrome - diagnosis, associations and outcome in 71 prenatally diagnosed cases

To analyze the spectrum of prenatally diagnosed absent pulmonary valve syndrome (APVS) and the outcome from diagnosis onwards. Fetuses with APVS and tetralogy of Fallot (TOF/APVS) and with APVS and intact ventricular septum (APVS/IVS) were included.status: publishe