Is Fetal Hydrops in Turner Syndrome a Risk Factor for the Development of Maternal Mirror Syndrome?

Mirror syndrome is a rare and serious maternal condition associated with immune and non-immune fetal hydrops after 16 weeks of gestational age. Subjacent conditions associated with fetal hydrops may carry different risks for Mirror syndrome. Fetuses with Turner syndrome are frequently found to be hydropic on ultrasound. We designed a retrospective multicenter study to evaluate the risk for Mirror syndrome among pregnancies complicated with Turner syndrome and fetal hydrops. Data were extracted from a questionnaire sent to specialists in maternal fetal medicine in Germany. Out of 758 cases, 138 fulfilled our inclusion criteria and were included in the analysis. Of the included 138, 66 presented with persisting hydrops at or after 16 weeks. The frequency of placental hydrops/placentomegaly was rather low (8.1%). Of note, no Mirror syndrome was observed in our study cohort. We propose that the risk of this pregnancy complication varies according to the subjacent cause of fetal hydrops. In Turner syndrome, the risk for Mirror syndrome is lower than that reported in the literature. Our observations are relevant for clinical management and parental counseling.

Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome.

OBJECTIVE: Simpson-Golabi-Behmel (SGBS) syndrome type 1 and type 2 represent rare X-linked prenatal overgrowth disorders. The aim of our study is to describe the prenatal sonographic features as well as the genetic work-up. METHOD: Retrospective analysis of four cases with a pre- or postnatal diagnosis of SGBS in a single tertiary referral center within a period of 4 years. RESULTS: In the study period, four male fetuses with SGBS were detected. The final diagnosis was made prenatally in three cases. In all cases the second trimester anomaly scan revealed left sided congenital diaphragmatic hernia (CDH) with additional anomalies; three fetuses with SGBS type 1 showed fetal overgrowth. In two of these, whole exome sequencing showed a possible frameshift mutation and a point mutation in the gene GPC3, respectively. In the third case, multiplex ligation-dependent probe amplification (MLPA) revealed a hemizygous duplication of exon 3-7 in the gene GPC3. In the fourth case, SGBS type 2 was confirmed by array comparative genomic hybridization (CGH) of amniotic fluid cells showing a deletion of the gene OFD1. CONCLUSION: We could demonstrate, that in the presence of a CDH, syndromes of the fetus can be increasingly differentiated by detailed sonography followed by a selective and graded molecular diagnostic using microarray techniques and whole exome sequencing. © 2016 John Wiley & Sons, Ltd.

Study of the third stage of labor by color Doppler sonography.

We wanted to evaluate whether improvement in ultrasound equipment in the last 5 years altered our perception of the phases of placental separation during the third stage of labor. We also investigated the influence of active management on the third stage of labor after sonographically verified placental separation. Between January and November 2001, the third stage of labor was examined in 55 women at 37-41 weeks of gestation by color Doppler sonography. The duration of blood flow between the myometrium and the placenta, the latent phase, the detachment phase, and the expulsion phase were measured and compared with the corresponding values of an earlier cohort of 57 patients investigated between November 1994 and August 1995. In the later cohort, both the duration of maternal blood flow and the detachment phase were significantly longer than in the earlier cohort (33 s +/- 48 s vs 0 s, P<0.0001 and 56 s+/-45 s vs 37 s+/-21 s, P<0.01, respectively), whereas the latent phase was significantly shorter (101 s+/-87 s vs 213 s+/-180 s, P<0.0001). There was no statistically significant difference in the length of the expulsion phase or the third stage of labor. The later cohort showed a statistically significantly more frequent multiphasic placental detachment ( P<0.05). Improvement in ultrasound equipment resulted in an earlier detection of the onset of placental separation, leading to a shorter latent phase and consecutively increased duration of the detachment phase, whereas the total duration of the third stage of labor remained unchanged. Furthermore, increased sensitivity of Doppler sonography led to a longer visualization of blood flow between the myometrium and the placenta in the normal third stage of labor.