Fetal thrombocytopenia secondary to parvovirus infection

The aim of this study was to determine the platelet count in fetuses undergoing cordocentesis for hydrops caused by parvovirus infection. Fetal platelets were measured at cordocentesis in 11 pregnant women who underwent the procedure because of fetal ascites and/or hydrops caused by parvovirus infection. Thrombocytopenia was defined as mild (platelet count < 150 × 109/L), moderate (platelet count ≤ 100 × 109/L), or severe (platelet count to ≤ 50 × 109/L). Paired Student t test was performed to compare the platelet count before and after the transfusion. The fetuses underwent 20 cordocenteses. They were thrombocytopenic in 17 and anemic in 15 occasions. The platelet count was reduced after the transfusion (P < .05). Demises occurred after the first transfusion in 2 fetuses. The first occurred within 5 minutes from the procedure and the second within 24 hours. Both were attributed to exsanguination from the umbilical cord puncture site (platelet count 2 and 24 × 109/L, respectively). Thrombocytopenia is common in fetuses with hydrops caused by parvovirus infection, and can cause exsanguination from the umbilical cord puncture site. We recommend platelet transfusion during cordocentesis when there is severe thrombocytopenia

Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre‐ and postnatal diagnostic testing in Germany

Holoprosencephaly (HPE) has been defined as a distinct clinical entity with characteristic facial gestalt, which may-or may not-be associated with the true brain malformation observed post-mortem in autopsy or in pre- or postnatal imaging. Affected families mainly show autosomal dominant inheritance with markedly reduced penetrance and extremely broad clinical variability even between mutation carriers within the same families. We here present advances in prenatal imaging over the last years, increasing the proportion of individuals with HPE identified prenatally including milder HPE forms and more frequently allowing to detect more severe forms already in early gestation. We report the results of diagnostic genetic testing of 344 unrelated patients for HPE at our lab in Germany since the year 2000, which currently with the application of next generation sequencing (NGS) panel sequencing identifies causal mutations for about 31% (12/38) of unrelated individuals with normal chromosomes when compared to about 15% (46/306) using conventional Sanger sequencing and Multiplex Ligation-dependent Probe Amplification (MLPA). More comprehensive genetic testing by our in house NGS panel sequencing of 10 HPE associated genes (MiSeq (TM) and NextSeq (TM) 500, Illumina, Inc., San Diego, CA) not only allowed to include genes with smaller contribution to the phenotype, but may also unravel additional low frequency or more common genetic variants potentially contributing to the observed large intrafamiliar variability and may ultimately guide our understanding of the individual clinical manifestation of this complex developmental disorder

Fetus and uteroplacental unit: fast MR imaging with three-dimensional reconstruction and volumetry--feasibility study

In 22 fetuses, three-dimensional reconstruction was performed on the basis of T2-weighted magnetic resonance (MR) data sets by using a surface-rendering technique. Fetuses and uteroplacental units were segmented manually; volumes were calculated automatically. Three-dimensional reconstruction and volumetry of the fetus and uteroplacental unit are feasible with MR data sets. MR estimates correlated closely with ultrasonographic fetal biometric estimates and birth weight

MR obstetric pelvimetry: effect of birthing position on pelvic bony dimensions

OBJECTIVE The aim of our study was to measure the impact of supine and upright birthing positions on MR pelvimetric dimensions. MATERIALS AND METHODS MR pelvimetry was performed in 35 nonpregnant female volunteers in an open 0.5-T MR imaging system with patients in the supine, hand-to-knee, and squatting positions. The obstetric conjugate; sagittal outlet; and interspinous, intertuberous, and transverse diameters were compared among positions. RESULTS With patients in the hand-to-knee and squatting positions, the sagittal outlet (11.8 +/- 1.3 cm and 11.7 +/- 1.3 cm) exceeded that in the supine position (11.5 +/- 1.3 cm; p = 0.002 and p = 0.01, respectively), as did the interspinous diameter (11.6 +/- 1.1 cm and 11.7 +/- 1.0 cm vs 11.0 +/- 0.7 cm; p < 0.0001, in both cases). Intertuberous diameter was wider with patients in the squatting position than in the supine position (12.7 +/- 0.8 cm vs 12.4 +/- 1.1 cm; p = 0.01). Only the obstetric conjugate was smaller with patients in the upright squatting position than in the supine position (12.3 +/- 0.8 cm vs 12.4 +/- 0.9 cm; p = 0.01). Transverse diameter did not change significantly in any position. CONCLUSION An upright birthing position significantly expands female pelvic bony dimensions, suggesting facilitation of labor and delivery

Pelvimetry and patient acceptability compared between open 0.5-T and closed 1.5-T MR systems

Our objective was to compare maternal pelvimetry and patient acceptability between open low-field (0.5-T) and closed 1.5-T MR systems. Thirty women referred for pelvimetry (pregnant: n=15) were scanned twice in the supine position, once in the vertical open system and once in the closed system. Each patient completed a comfort and acceptability questionnaire. Pelvimetric and questionnaire data were compared between systems. Total scan time was double in the open system (7:52+/-1:47 vs 3:12+/-1:20 min). Poor image quality in the open system prevented assessment of interspinous and intertuberous diameters in one woman and all measurements in another, both pregnant, with abdominal circumferences >120 cm. The open system was much more acceptable in terms of claustrophobia and confinement (both p<0.01). Claustrophobia interrupted one closed examination. Thirty-three percent of pregnant women in both systems reported fear of fetal harm. Sixty percent of all women preferred the open system, 7% the closed system, and 33% had no preference. Limits of agreement of 3-5% from the mean for all diameters confirmed good pelvimetric reproducibility. Women's preference for open-system MR pelvimetry is feasible with abdominal circumferences <or=120 cm