IntroductionThe objective of this study was to present the Swedish Pregnancy Register and to explore regional differences in maternal characteristics, antenatal care, first trimester combined screening and delivery outcomes in Sweden.Material and methodsThe Pregnancy Register (www.graviditetsregistret.se) collects data on pregnancy and childbirth, starting at the first visit to antenatal care and ending at the follow‐up visit to the antenatal care, which usually occurs at around 8–16 weeks postpartum. The majority of data is collected directly from the electronic medical records. The Register includes demographic, reproductive and maternal health data, as well information on prenatal diagnostics, and pregnancy outcome for the mother and the newborn.ResultsToday the Register covers more than 90% of all deliveries in Sweden, with the aim to include all deliveries within 2018. The care providers can visualize quality measures over time and compare results with other clinics, regionally and nationally by creating reports on an aggregated level or using case‐mix adjusted Dash Boards in real time. Detailed data can be extracted after ethical approval for research. In this report, we showed regional differences in patient characteristics, antenatal care, fetal diagnosis and delivery outcomes in Sweden.ConclusionsOur report indicates that quality in antenatal and delivery care in Sweden varies between regions, which warrants further actions. The Swedish Pregnancy Register is a new and valuable resource for benchmarking, quality improvement and research in pregnancy, fetal diagnosis and delivery.

Neu-Laxova syndrome (NLS) is a rare autosomal-recessive disorder characterized by a recognizable pattern of severe malformations leading to prenatal or early postnatal lethality. Homozygous mutations in PHGDH, a gene involved in the first and limiting step in L-serine biosynthesis, were recently identified as the cause of the disease in three families. By studying a cohort of 12 unrelated families affected by NLS, we provide evidence that NLS is genetically heterogeneous and can be caused by mutations in all three genes encoding enzymes of the L-serine biosynthesis pathway. Consistent with recently reported findings, we could identify PHGDH missense mutations in three unrelated families of our cohort. Furthermore, we mapped an overlapping homozygous chromosome 9 region containing PSAT1 in four consanguineous families. This gene encodes phosphoserine aminotransferase, the enzyme for the second step in L-serine biosynthesis. We identified six families with three different missense and frameshift PSAT1 mutations fully segregating with the disease. In another family, we discovered a homozygous frameshift mutation in PSPH, the gene encoding phosphoserine phosphatase, which catalyzes the last step of L-serine biosynthesis. Interestingly, all three identified genes have been previously implicated in serine-deficiency disorders, characterized by variable neurological manifestations. Our findings expand our understanding of NLS as a disorder of the L-serine biosynthesis pathway and suggest that NLS represents the severe end of serine-deficiency disorders, demonstrating that certain complex syndromes characterized by early lethality could indeed be the extreme end of the phenotypic spectrum of already known disorders.

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Objectives Nuchal translucency (NT) screening increases antenatal detection of Down syndrome (DS) compared to maternal age-based screening. We wanted to determine if a change in policy for prenatal diagnosis would result in fewer babies born with DS. Methods