Further randomized, controlled trials with longer follow-up will be needed to answer currently open questions about the potential for individualized surgical treatment and the proper role of pharmacotherapy.

ClinicalTrials.gov Identifier: NCT03048396.

Impaired fetal movement causes malformations, summarized as fetal akinesia deformation sequence (FADS), and is triggered by environmental and genetic factors. Acetylcholine receptor (AChR) components are suspects because mutations in the fetally expressed gamma subunit (CHRNG) of AChR were found in two FADS disorders, lethal multiple pterygium syndrome (LMPS) and Escobar syndrome. Other AChR subunits alpha1, beta1, and delta (CHRNA1, CHRNB1, CHRND) as well as receptor-associated protein of the synapse (RAPSN) previously revealed missense or compound nonsense-missense mutations in viable congenital myasthenic syndrome; lethality of homozygous null mutations was predicted but never shown. We provide the first report to our knowledge of homozygous nonsense mutations in CHRNA1 and CHRND and show that they were lethal, whereas novel recessive missense mutations in RAPSN caused a severe but not necessarily lethal phenotype. To elucidate disease-associated malformations such as frequent abortions, fetal edema, cystic hygroma, or cardiac defects, we studied Chrna1, Chrnb1, Chrnd, Chrng, and Rapsn in mouse embryos and found expression in skeletal muscles but also in early somite development. This indicates that early developmental defects might be due to somite expression in addition to solely muscle-specific effects. We conclude that complete or severe functional disruption of fetal AChR causes lethal multiple pterygium syndrome whereas milder alterations result in fetal hypokinesia with inborn contractures or a myasthenic syndrome later in life.

Uterus transplantation (UTx) can provide a route to motherhood for women with Mayer–Rokitansky–Küster–Hauser syndrome (MRKHS), a congenital disorder characterized by uterovaginal aplasia, but with functional ovaries. Based on our four successful living-donor transplantations and two resulting births, this analysis presents parameters relevant to standardizing recipient/donor selection, UTx surgery, and postoperative treatment, and their implementation in routine settings. We descriptively analyzed prospectively collected observational data from our four uterus recipients, all with MRKHS, their living donors, and the two newborns born to two recipients, including 1-year postnatal follow-ups. Analysis included only living-donor/recipient pairs with completed donor/recipient surgery. Two recipients, both requiring ovarian restimulation under immunosuppression after missed pregnancy loss in one case and no pregnancy in the other, each delivered a healthy boy by cesarean section. We conclude that parameters crucial to successful transplantation, pregnancy, and childbirth include careful selection of donor/recipient pairs, donor organ quality, meticulous surgical technique, a multidisciplinary team approach, and comprehensive follow-up. Surgery duration and blood vessel selection await further optimization, as do the choice and duration of immunosuppression, which are crucial to timing the first embryo transfer. Data need to be collected in an international registry due to the low prevalence of MRKHS.

Introduction: The aim of this retrospective clinical study was to compare the accuracy of 36 commonly used weight estimation formulae in macrosomic fetuses. Material and Methods: Ultrasound estimation of fetal weight (FW) was carried out within 7 days up to delivery in 350 singleton fetuses with a birth weight (BW) of ≧4,000 g. The accuracy of the different formulae for FW estimation was compared by, firstly, the mean percentage (MPE) and mean absolute percentage error (MAPE), secondly, by the frequency distribution of differences between estimated FW and fetal BW, and thirdly by comparing detection and false positive rates in screening for fetuses with a BW of 4,000, 4,300 and 4,500 g or more. Results: MPE ranged from –62.2 to 9.6% and was closest to 0 with the Hart formula. With 12 of 36 weight estimation formulae, MAPE was 10% or less, and was smallest with the Hart formulae (3.9%). The mean detection rate among all formulae for fetuses with a BW ≧4,000, ≧4,300 and ≧4,500 g was 29, 24 and 22%, respectively, and the false positive rate was 12% (for ≧4,300 g) and 7% (≧4,500 g). Discussion: Some formulae showed advantages as far as mean and absolute percentage errors were concerned, but none reached a detection rate and false positive rate for fetuses ≧4,500 g that could lead to clinical recommendation.

After a primary maternal CMV infection in the first trimester, HIG administration prevents maternal-fetal transmission up to 20 weeks of gestation. This article is protected by copyright. All rights reserved.

Objective To evaluate the prefrontal space ratio (PFSR) in second-and third-trimester ResultsIn the euploid and trisomy 21 groups, the median gestational age at the time of ultrasound examination was 21.1 (range, 15.0-40.0) and 21.4 (range, 15.0-40.3

Objective To compare the intra-and interoperator reliability of manual and semi-automated nuchal translucency thickness (NT) measurement by sonographers with different levels of experience. Methods From our digital database we selected retrospectively 70 NT images without measurements and of highest quality according to the guidelines of The Fetal Medicine Foundation (FMF