First prenatal case of Kagami-Ogata syndrome associated with a small supernumerary marker chromosome derived from chromosome 15.

OBJECTIVE: Uniparental disomy (UPD) is one of the common causes of imprinting disorders, which can have an impact on gene expression according to the origin of the parental chromosome. Paternal UPD14 leads to Kagami-Ogata syndrome (KOS), which has a more severe phenotype than maternal UPD14, also called Temple syndrome. Small supernumerary marker chromosomes (SSMCs) are defined as structural chromosomal abnormalities that may be inherited or come from micronucleus-mediated chromothripsis. The association of UPD and SSMC is very rare but not fortuitous and several mechanisms can explain this phenomenon. CASE REPORT: We report the first prenatal case of paternal isodisomy for chromosome 14 associated with a de novo SSMC originating from chromosome 15 and revealed by KOS. The mechanism could be a chromothripsis mediated by trisomy rescue. CONCLUSION: Regarding this case, in relation to a de novo SSMC, it could be important to extend the research of UPD to other acrocentric chromosomes if ultrasound signs are evocative.

Pulsed Doppler fetal atrioventricular interval measurement: Assessment of a new image scoring method.

OBJECTIVES: We propose an image scoring method to improve the quality and the reproducibility of measurement of the AV interval before establishing reference tables of the measurements and studies on the prevention and treatment of first-degree AV block especially if the first child has been diagnosed AV block. METHOD: Prospective study from May 2015 to June 2016. Sonographers were asked to measure AV interval with pulsed Doppler in a five-chamber view in standard second-trimester screening before and after having received our image scoring method. Images were scored by 2 blinded reviewers. RESULTS: The intra-class correlation coefficient (ICC) between the two reviewers for the overall score was 0.91. On average, the measurement quality increased by 2.5 points/10 (95% CI 1.0-4.0). In the second set of images, after the scoring method was given, the score stared at 6.50 for the first image, with a significant improvement of 0.18 (p = 0.016) per subsequent image comparing to a non significant improvement for the first set of image. There was a significant improvement in intra-observer reliability, ICC: 0.680 [95% CI 0.606-0.854] versus 0.458 [95% CI 0.140-0.651]. CONCLUSION: The use of this scoring method is simple, reproducible and improves image quality and reproducibility of AV interval measurement in a five-chamber view.

Hemodynamic impact of absent or reverse end-diastolic flow in the two umbilical arteries in growth-restricted fetuses.

OBJECTIVE: To determine if bilateral absent or reverse end-diastolic (ARED) flow in the two umbilical arteries (UAs) at the perivesical (PVC) segment represents a more severe degree of hemodynamic compromise than unilateral ARED flow at the PVC segment in singleton pregnancies complicated by intrauterine growth restriction (IUGR). METHODS: This was a prospective observational study. One hundred nine fetuses with IUGR underwent a total of 225 ultrasound (US) examinations. We measured the pulsatility index (PI) from the two UAs at the PVC segment, UA in the free floating cord (FFC), middle cerebral artery (MCA), ductus venosus (DV) and the aortic isthmus blood flow index (IFI). Three groups were classified according to bilateral positive end-diastolic (PED) flow, unilateral ARED flow or bilateral ARED flow in the UAs at the PVC segment. RESULTS: The proportions of US examinations with PED flow, unilateral ARED flow and bilateral ARED flow in the UAs were 54.7%, 20.4%, and 24.9%, respectively. At the last US examination, the IFI z-scores were significantly lower in the bilateral ARED group (-6.28 ± 4.30) compared to the unilateral ARED group (-1.72 ± 3.18, p<0.05) and the bilateral PED group (-0.83 ± 2.36, p<0.05), the DV-PI z-scores were significantly higher in the bilateral ARED group (2.15 ± 3.79) compared to the bilateral PED group (0.64 ± 1.50, p<0.05). Before 32 weeks of gestation, the interval between US examination and delivery was significantly shorter in the bilateral ARED group (8.9 days ± 8.2) than the unilateral ARED group (15.9 days ± 13.4, p<0.05) and the bilateral PED group (30.3 days ± 25.7, p<0.05). CONCLUSION: There are significant differences in fetal blood fluxes between left and right UA. Doppler examination at the PVC segment significantly improves the comparability of UA-PI between two successive US examinations and allows a longitudinal and independent hemodynamic investigation of each UA. Examination of a single UA in free floating cord may miss a large fraction of unilateral ARED flow. In singleton IUGR fetuses, a bilateral ARED flow in the UAs at the PVC segment indicates more severe hemodynamic compromise and worse fetal conditions than unilateral ARED flow.

Fetopathologic examination for early termination of pregnancy: dogma or necessity?

OBJECTIVE: Our objective was assessment of fetopathological examination after termination of pregnancy (TOP) for fetal anomalies with normal karyotype <17 weeks of gestation. STUDY DESIGN: This was a multicenter retrospective study. Records of TOP for fetal anomalies with normal karyotype were analyzed. Primary outcomes were modifications of genetic counseling and management of next subsequent pregnancies. Medical TOPs were compared with surgical TOPs. RESULTS: In all, 59 pregnancies were included (30 aspirations, 29 inductions). Fetopathological examination modified genetic counseling for 22 patients: 62% for the medical induction group vs 13% in the vacuum aspiration group (P < .001). Management of subsequent pregnancies was modified in 17% in the medical induction group vs 3% in the aspiration group (P = .06). CONCLUSION: Fetopathological examination for early TOP with normal karyotype is relevant, especially when an intact fetus is examined. Thanks to it, genetic counseling is often modified, as is management of the next pregnancy. Medical procedures should be preferred to surgical procedures.