Romain Favre

Prenatal sonographic diagnosis of skeletal dysplasias. A report of 47 cases.

The purpose of this study was to evaluate the foetal sonographic efficiency for prenatal diagnosis of osteochondrodysplasias. Forty-seven prenatal and postnatal cases diagnosed between January 1993 and December 1998 in the referral sonographic centres of Strasbourg were studied. All cases were reviewed retrospectively and the prenatal ultrasound findings and diagnosis were compared to the postnatal or post-mortem diagnosis. Each case was studied by ultrasonographers, geneticists, radiologists, and foetopathologists. Final diagnosis was based on clinical examination, skeletal survey and molecular testing as deemed necessary. Routine screening and dating was the indication for foetal sonography in 72% (32/47) of our cases. The most likely time of diagnosis was between 16 and 24 weeks of gestation (17 out of 47 cases, 36%), which corresponds to the time of foetal anomaly sonographic scan in France. The other cluster of cases (12 among 47, 26%) was disclosed before 16 weeks of gestation. These results illustrate the importance of a detailed evaluation of the limbs during sonographic examinations of first and second trimesters of pregnancy. While the identification of skeletal dysplasias was relatively easy in our study, the ability to make an accurate specific antenatal diagnosis was more difficult. An accurate diagnosis was proposed in 28 of the 47 cases (60%). In 19% of the cases (9/47), the prenatal diagnosis was not accurate; in 21% of the cases (10/47), the prenatal diagnosis was imprecise. In 45 of the 47 cases (96%) prenatal foetal scan correctly predicted the prognosis.

Timing of lung size assessment in the prediction of survival in fetuses with diaphragmatic hernia

To investigate whether the prediction of postnatal outcome of fetuses with isolated congenital diaphragmatic hernia depends on the gestational age at assessment using the fetal observed to expected (O/E) lung area to head circumference ratio (LHR), by comparing the performance of the test at 22–23 weeks with that at 32–33 weeks of gestation.

Placental abruption: risk factors, management and maternal-fetal prognosis. Cohort study over 10 years

OBJECTIVEnTo describe maternal and fetal risk factors, diagnosis, management and prognosis of placental abruption (PA).nnnSTUDY DESIGNnA retrospective cohort study between January 2003 and December 2012 within the three maternity units of a French university hospital. We included 55,926 deliveries after 24 weeks gestation including 247 cases of PA (0.4%). We conducted univariate analyses to compare PA and control groups. Multivariate models were constructed in order to study PA risk factors and perinatal morbidity and mortality.nnnRESULTSnIndependent risk factors for PA were preterm premature rupture of membranes (OR 9.5; 95% CI [6.9-13.1]), gestational hypertension (OR 7.4; 95% CI [5.1-10.8]), preeclampsia (OR 2.9; 95% CI [1.9-4.6]) and major multiparity (OR 1.6; 95% CI [1.1-2.4]). The classic clinical triad associating metrorrhagia, uterine hypertonia and abdominopelvic pains was present in only 9.7% of cases. Caesarean section rate was 90.3% with 51.8% being performed under general anesthesia. There was no case of maternal death, but maternal morbidity was considerable, with 7.7% of coagulation disorders and 16.6% of transfusion. After adjustment for the gestational age, we found an increased risk for pH≤7.0 (OR 14.9; 95% CI [9.2-23.9]) and neonatal resuscitation (OR 4.6; 95% CI [3.1-6.8]). Perinatal mortality was 15.8%, including 78% of fetal deaths.nnnCONCLUSIONSnAppropriate multidisciplinary management can limit maternal morbidity and mortality but perinatal mortality, which occurs essentially in utero, remains high.

Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromes.

Prader–Willi syndrome (PWS) and Angelman syndrome (AS) are associated with a loss of function of imprinted genes in the 15q11–q13 region mostly due to deletions or uniparental disomies (UPD). These anomalies usually occur de novo with a very low recurrence risk. However, in rare cases, familial translocations are observed, giving rise to a high recurrence risk. We report on the difficulties of genetic counseling and prenatal diagnosis in a family segregating for a translocation (14;15)(q11;q13) where two consanguineous parents carry the same familial translocation in this chromosome 15 imprinting region. Both children of the couple inherited a chromosomal anomaly leading to PWS. However, a paternal 15q11–q13 deletion was responsible for PWS in the first child, whereas prenatal diagnosis demonstrated that PWS was associated with a maternal 15q11–q13 UPD in the fetus. This report demonstrates that both conventional and molecular cytogenetic parental analyses have to be performed when a deletion is responsible for PWS or AS in order not to overlook a familial translocation and to insure reliable diagnosis and genetic counseling.

Prenatal management and thoracoamniotic shunting in primary fetal pleural effusions: a single centre experience.

Primary fetal pleural effusions are rare. If severe, thoracoamniotic shunting is needed. Our objective was to study the management and outcomes of pleural effusions in our unit.

Predictive value of cardiovascular parameters in twin‐to‐twin transfusion syndrome

To evaluate the prognostic value of the Childrens Hospital Of Philadelphia (CHOP) cardiovascular score and the modified myocardial performance index (MPI), in determining the risk of recipient fetal loss in twin‐to‐twin transfusion syndrome (TTTS).

Middle cerebral artery peak systolic velocity to predict fetal hemoglobin levels in twin anemia–polycythemia sequence

To evaluate the diagnostic accuracy of middle cerebral artery peak systolic velocity (MCA‐PSV) Doppler measurements in prediction of hemoglobin levels in twin anemia–polycythemia sequence (TAPS).

Predictive value of cardiovascular parameters in stages 1 and 2 of twin-to-twin transfusion syndrome

The Quintero staging of twin‐to‐twin transfusion syndrome (TTTS) does not include a comprehensive cardiovascular assessment. The aim of this study is to assess the predictive value of the myocardial performance index (MPI) and the Childrens Hospital of Philadelphia (CHOP) score on recipient survival in Quintero stages 1 and 2 TTTS.

Postnatal phenotype according to prenatal ultrasound features of Noonan syndrome: a retrospective study of 28 cases.

Noonan syndrome is a frequent genetic disorder with autosomal dominant transmission. Classically, it combines postnatal growth restriction with dysmorphic and malformation syndromes that vary widely in expressivity. Lymphatic dysplasia induced during the embryonic stage might interfere with tissue migration. Our hypothesis is that the earlier the edema, the more severe postnatal phenotype.

Predicting the difficulty of operative vaginal delivery by ultrasound measurement of fetal head station

BACKGROUND: Clinical assessment of fetal head station is difficult and subjective; it is mandatory before attempting operative vaginal delivery. OBJECTIVE: The principal objective of our study was to assess whether measurement of the perineum‐to‐skull ultrasound distance was predictive of a difficult operative vaginal delivery. Secondary objectives included evaluation of the interobserver reproducibility of perineum‐to‐skull ultrasound distance and comparison of this measurement and digital examination in predicting a difficult operative delivery. STUDY DESIGN: This was a prospective cohort study including all cases of operative vaginal deliveries in singleton pregnancies in cephalic presentation >34 weeks’ gestation, from 2012 through 2015. All data were entered prospectively in a medical record system specially devised to meet the requirements of this study. RESULTS: Of the 659 patients in whom perineum‐to‐skull ultrasound distance was measured prior to operative vaginal delivery, 120 (18%) met the composite criterion for a difficult extraction. Perineum‐to‐skull ultrasound distance measurement of ≥40 mm was significantly associated with the occurrence of a difficult extraction based on the composite criterion, after adjustment for parity, presentation type, and fetal macrosomia (odds ratio, 2.38; 95% confidence interval, 1.51–3.74; P = .0002). The intraclass correlation coefficient between the perineum‐to‐skull ultrasound distance measured by the first operator and that measured by the second operator was 0.96 (95% confidence interval, 0.95–0.97; P < .0001). Based on the receiver operating characteristic curve analyses, perineum‐to‐skull ultrasound distance was a more accurate predictor of difficult operative delivery than digital vaginal examination (P = .036). CONCLUSION: Measurement of the perineum‐fetal skull ultrasound distance is a reproducible and predictive index of the difficulty of instrumental extraction. Ultrasound is a useful supplementary tool to the usual clinical findings.