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Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through whole‐exome sequencing combined with arrayCGH from DNA of a fetus presenting with early onset AMC, we identified biallelic loss of function variants in Dystonin (DST): a stop gain variant (NM_001144769.5:c.12208G > T:p.(Glu4070Ter)) on the neuronal isoform and a 175 kb microdeletion including exons 25–96 of this isoform on the other allele [NC_000006.11:g.(56212278_56323554)_(56499398_56507586)del]. Transmission electron microscopy of the sciatic nerve revealed abnormal morphology of the peripheral nerve with severe hypomyelination associated with dramatic reduction of fiber density which highlights the critical role of DST in peripheral nerve axonogenesis during development in human. Variants in the neuronal isoforms of DST cause hereditary sensory and autonomic neuropathy which has been reported in several unrelated families with highly variable age of onset from fetal to adult onset. Our data enlarge the disease mechanisms of neurogenic AMC. [ABSTRACT FROM AUTHOR]

Objective: To assess whether antibiotics used for treatment in asymptomatic second-trimester women positive for Mycoplasma or Ureaplasma spp. detected by amniotic-fluid PCR prevents preterm delivery. Design: A randomized, double-blind, placebo-controlled trial. Setting: 10 maternal fetal medicine centers in France. Population: Women with a singleton pregnancy who underwent amniocentesis between 16 and 20 weeks’ gestation (weeks) for Down syndrome screening. A sample of 238 women with PCR-positive findings per treatment group was needed to show a 50% reduction in the preterm delivery rate. Methods: Amniotic fluid was tested. Women with positive findings on real-time PCR of amniotic fluid for Mycoplasma hominis, Mycoplasma genitalium, Ureaplasma urealyticum and Ureaplasma parvum were randomized to receive josamycin or placebo. Amniotic fluid was also tested for 16S PCR. Main outcome measures: The primary outcome was delivery before 37 weeks. Results: In total, 1043 women underwent amniotic-fluid screening with specific PCR detection between July 2008 and July 2011: PCR detection failed in 27 (2.6%), and 20 (1.9%) underwent termination of pregnancy. Among the 1016 women with PCR results, 980 had available data for the primary outcome (delivery before 37 weeks) and 29 (3.0%) were positive for Ureaplasma and/or Mycoplasma spp. Because of the low rate of women with PCR-positive findings, the trial was stopped prematurely. In total, 19 women were randomized to receive placebo (n = 8) or josamycin (n = 11) and their characteristics were comparable, as was the rate of preterm delivery and secondary outcomes. In comparing all PCR-positive and -negative women regardless of treatment, PCR positivity for Ureaplasma and/or Mycoplasma spp. was not associated with any adverse pregnancy or neonatal outcome. Amniotic-fluid screening by 16S PCR showed no other bacterial colonization associated with preterm birth. Conclusions: Because of a low amniotic fluid colonization rate, the trial was interrupted. Maternal amniotic-fluid colonization by Mycoplasma and/or Ureaplasma spp. at 16–20 weeks in asymptomatic women is rare and not associated with adverse pregnancy outcomes. Trial registration: ClinicalTrials.gov [ABSTRACT FROM AUTHOR]

Objective: The objective of the study was to evaluate prenatal sonographic signs that distinguish male fetuses with posterior urethral valves (PUV) from those with vesicoureteral reflux (VUR).Methods: Prenatal data were retrospectively retrieved from all consecutive women delivering between 2003 and 2012 of a male newborn with a postnatal diagnosis of PUV or VUR. Prenatal parameters included fetal bladder characteristics, identification of a dilated posterior urethra, and change in shape and size in the fetal renal pelvis or ureter.Results: One hundred thirty-six women gave birth to a male newborn with a postnatal diagnosis of PUV (n = 49) or VUR (n = 87). The presence of posterior urethral dilatation [21 (42.9%) fetuses versus 0 (0%), p = 0.000], a thickened fetal bladder wall [37 (75.5%) vs 4 (4.6%), p = 0.000], and anhydramnios [14 (28.6%) vs 0, p = 0.000] were strongly associated with the postnatal diagnosis of PUV. Change in shape and size in the fetal renal pelvis or ureter was observed in 15 (17.2%) of 87 children with VUR versus 1 (2.0%) out of 49 with PUV (p = 0.010).Conclusions: Prenatal ultrasound may differentiate with reasonable accuracy male fetuses with a postnatal diagnosis of PUV from those with VUR. © 2016 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented which discusses a case study of 17-year-old woman who has had hemoglobin sickle-cell (S-C) disease following blood transfusion.

Objectives: To evaluate prenatal sonographic signs that distinguish male children born alive with posterior urethral valves (PUV) from those with vesicoureteral reflux (VUR). Methods: Antenatal data were retrospectively retrieved for all pregnant women who delivered consecutively between 2003 and 2012 a boy born alive with a postnatal diagnosis of PUV or VUR. Prenatal parameters included fetal bladder characteristics, identification of a dilated posterior urethra, fluctuating activity in the fetal renal pelvis or ureter and amniotic fluid volume. Results: 123 women gave birth to male infants born alive for whom there was a postnatal diagnosis of PUV in 36 cases and VUR in 87. A thickened bladder wall was highly associated with the diagnosis of PUV (30 fetuses [83.3%] versus 4 fetuses [4.6%] with VUR, p<0.000, OR 100 [95% CI 27.0-333]). An enlarged bladder was observed in 20 fetuses (55.6%) with a postnatal diagnosis of PUV and in 29 fetuses (33.3%) with VUR (p=0.027, OR 2.50 [95% CI 1.13-5.53]). A posterior urethral dilatation was visualized in 18 fetuses (50.0%) with PUV and was not present in any cases of fetuses with VUR (p<0.000, OR 173 [95% CI 9.97-3001]). In addition, oligoanhydramnios appeared to be strongly associated with the postnatal diagnosis of PUV compared with that of VUR (13 [36.1%] versus 7 [8.05%], p=0.000). Fluctuating activity in the fetal renal pelvis or ureter was observed in15 (17.2%) of 87 children with reflux, versus 1 (2.78%) of 36 newborns with valves (p=0.037). Conclusions: This study demonstrates that prenatal ultrasound can differentiate with reasonable accuracy male neonates born alive with a postnatal diagnosis of PUV from those with VUR. Dilated posterior urethra, thickened bladder wall and oligoanhydramnios were significantly associated with PUV. The best indicator of VUR was a fluctuating activity in ureters. These results may help in perinatal management and prenatal counselling. [ABSTRACT FROM AUTHOR]

Feto-maternal alloimmune thrombocytopenia (FMAIT) results from the maternal production of antibodies against fetal platelets with incompatible antigens inherited from the father. We present a case where this condition was diagnosed prenatally without previously affected siblings. The severe fetal thrombocytopenia was due to anti-HLA-5b maternal alloantibodies. This was treated successfully by intravenous immunoglobulins. Our case reflects that FMAIT due to anti-HPA-5b may be severe and may be corrected successfully with intravenous immunoglogulins. [Copyright &y& Elsevier]