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Prof. Dr. med. Klaus Zerres has been awarded the honorary membership of the Society for Human Genetics (GfH) in recognition of his contributions to the field. He has had a long and active career in human genetics, with a particular focus on cystic kidney diseases and spinal muscular atrophy. Prof. Zerres has published over 600 scientific articles, received various awards, and held numerous positions in professional organizations. He is known for his dedication to the field and his commitment to ethical and societal considerations in genetics. [Extracted from the article]

By implementation of non-invasive prenatal testing (NIPT) for the diagnosis of Down syndrome (DS) in maternity care, an ethical debate is newly inflamed how to deal with this information. Fears of the consequences of an increased use of NIPT are justified with the same arguments when amniocentesis and preimplantation genetic diagnosis (PGD) were introduced decades ago. It can be expected that the prevalence of people with DS would significantly increase in Western societies as a result of the increasing age of pregnant women and the improved medical care for people with DS. The net effect as to whether an increasing uptake of NIPT will result in more abortions of fetuses with trisomy 21 cannot be reliably estimated. This holds true since more and more couples will use results of NIPT for information only, but will not opt for termination of pregnancy. Although parents love their children with DS, in a society where reproductive autonomy is seen as an achievement, access to NIPT cannot be limited. On this background, comprehensive and qualified pretest counseling is vital, also to avoid possible stigmatization of people with DS and as the resulting consequence to avoid feared deterioration in their living conditions, for which, however, there is no evidence to date. The personal view of a mother of a child with DS illustrates the complexity in dealing with NIPT, which does not allow simple answers and must be understood as a challenge for society as a whole. [ABSTRACT FROM AUTHOR]

Inherited peripheral neuropathy is the most common hereditary neuromuscular disease with a prevalence of about 1:2,500. The most frequent form is Charcot-Marie-Tooth disease (CMT, or hereditary motor and sensory neuropathy [HMSN]). Other clinical entities are hereditary neuropathy with liability to pressure palsies (HNPP), distal hereditary motor neuropathies (dHMN), and hereditary sensory and autonomic neuropathies (HSAN). With the exception of HNPP, which is almost always caused by defects of the PMP22 gene, all other forms show genetic heterogeneity with altogether more than 100 genes involved. Mutation detection rates vary considerably, reaching up to 80 % in demyelinating CMT (CMT1) but are still as low as 10–30 % in axonal CMT (CMT2), dHMN, and HSAN. Based on current information, analysis of only four genes (PMP22, GJB1, MPZ, MFN2) identifies 80–90 % of CMT-causing mutations that can be detected in all known disease genes. For the remaining patients, parallel analysis of multiple neuropathy genes using next-generation sequencing is now replacing phenotype-oriented multistep gene-by-gene sequencing. Such approaches tend to generate a wealth of genetic information that requires comprehensive evaluation of the pathogenic relevance of identified variants. In this review, we present current classification systems, specific phenotypic clues, and diagnostic yields in the different subgroups of hereditary CMT and motor neuropathies. [ABSTRACT FROM AUTHOR]

Background: Charcot-Marie-Tooth (CMT) neuropathies represent an important group of neuromuscular disorders and are mostly autosomal dominantly inherited. The question, if there is a higher complication rate in pregnancy and delivery in CMT neuropathy and if there is a possible influence of pregnancy on muscles and nerves themselves, is important for medical care and prepregnancy counselling of affected women. Objectives: In this review we first address general issues of the clinical picture of CMT disease and physiological adaptations in pregnancy. In the second part of this paper we summarise specific results of two comparable studies on the obstetric history of women with CMT neuropathy in order to address the obstetric complication rate, newborn vitality, possible deterioration of CMT in or after pregnancy and personal attitudes. The results are based on two combined cohort studies with 21 and 54 participants. Results: We documented 148 pregnancies (129 deliveries), resulting in 131 infants. There were no increased complication rates in the recorded pregnancies. Miscarriage rate was 12.8 % and thus as high as in unaffected women. Deliveries were not associated with specific risks; there were no increased preterm deliveries, vaginal operations or caesarean sections, and no increased postpartum haemorrhages. Newborn vitality was normal and birth measurements were within the normal range. A deterioration of CMT related symptoms was reported in about one-third of the pregnancies and after delivery, however, the functional impact on everyday life was rather low in classical CMT. Most women expressed a positive attitude towards having own children and family life but those with a larger handicap would recommend medical advice and assistance in caring for the family. Discussion and conclusion: Pregnancy can be safely undertaken in women with classical CMT, despite the fact that a negative influence on the disease course appears possible. The data of a Norwegian study which found higher rates of presentation anomalies and operative deliveries and a higher risk of postpartum haemorrhage have not been confirmed in our study. [ABSTRACT FROM AUTHOR]

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Aim: To determine the recurrence risk for hypertensive diseases in pregnancy after HELLP (Hemolysis Elevated Liver enzymes and Low Platelets) syndrome in a first pregnancy. Methods: The study was designed as a cohort study investigating 148 Caucasian primiparae with a diagnosis of HELLP syndrome in a first pregnancy and at least one subsequent pregnancy conducted beyond the 24th gestational week. Diagnoses were verified by reviewing medical records and classified according to ISSHP (International Society for the Study of Hypertension in Pregnancy) criteria. The recurrence risk of HELLP syndrome or other hypertensive disorders in the subsequent pregnancy was calculated with regard to disease severity in the index pregnancy. Results: Among 148 pregnancies subsequent to HELLP syndrome, 56.1% of the women were normotensive. The recurrence rate was 12.8% for HELLP syndrome, 16.2% for pre-eclampsia, and 14.2% for gestational hypertension only. Women with HELLP syndrome ≤32 gestational weeks tended to show a greater risk of complicated subsequent pregnancies compared to women presenting with HELLP after 32 gestational weeks. Conclusions: Women with a diagnosis of HELLP syndrome are at a strongly increased risk of recurrent HELLP syndrome, pre-eclampsia or gestational hypertension, however, currently no clinical or laboratory parameters allow the prediction of recurrence risk in any individual case. [ABSTRACT FROM AUTHOR]

Preeclampsia is specific to pregnancy and is still a leading cause of maternal and perinatal mortality and morbidity, affecting about 3% of women, but the underlying pathogenetic mechanisms still remain unclear. Immune maladaptation, placental ischemia and increased oxidative stress represent the main components discussed to be of etiologic importance, and they all may have genetic implications. Since the familial nature of preeclampsia is known for many years, extensive research on the genetic contribution to the pathogenesis of this severe pregnancy disorder has been performed. In this review, we will overview the linkage and candidate gene studies carried out so far as well as summarize important historical notes on the genetic hypotheses generated in preeclampsia research. Moreover, the influence of maternal and fetal genes and their interaction as well as the role of genomic imprinting in preeclampsia will be discussed. [ABSTRACT FROM AUTHOR]

Around 10-15 % of all couples are infertile, rendering infertility a widespread disease. Male and female causes contribute equally to infertility, and, depending on the definition, roughly 1 % to 5 % of all couples experience recurrent miscarriages. In German-speaking countries, recommendations for infertile couples and couples with recurrent miscarriages are published as consensus-based (S2k) Guidelines by the "Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften" (AWMF). This article summarizes the current recommendations with regard to genetic counseling and diagnostics. Prior to genetic counseling, the infertile couple must undergo a gynecological/andrological examination, which includes anamnesis, hormonal profiling, physical examination and genital ultrasound. Women should be examined for the presence of hyperandrogenemia. Men must further undergo a semen analysis. Based on the overall results, hyper- or hypogonadotropic hypogonadism can be diagnosed in both sexes. Female genetic diagnostics for infertility comprise karyotyping, analysis of the FMR1 premutation and a gene panel including genes associated with congenital hypogonadotropic hypogonadism (CHH) or congenital adrenal hyperplasia. Male genetic diagnostics for infertility comprise karyotyping, screening for AZF microdeletions, CFTR analysis and a gene panel including genes associated with CHH. Also, gene panels are increasingly being used to causally clarify specific phenotypes such as defective sperm morphology/motility or azoospermia. As infertile couples have an increased risk for chromosomal aberrations, a chromosomal analysis should also be offered to both partners prior to undergoing assisted reproductive technology. In couples with recurrent miscarriages, karyotyping is recommended to detect balanced structural chromosomal aberrations., Competing Interests: Conflict of interest: The authors declare no conflict of interest., (© 2021 Wyrwoll et al., published by De Gruyter.)

The genetic counsellor profession has not yet been established in the German-speaking countries. In 2019 the Medical University of Innsbruck inaugurated the first German-taught Master's degree programme in Genetic and Genomic Counselling. In order to discuss prospects and challenges of the genetic counsellor profession in Germany, Austria and Switzerland (DACH region), the MSc programme team organized a two-day workshop with international speakers and medical geneticists from the DACH region. Day 1 was dedicated to the history, training and international profile of the genetic counsellor profession. Day 2 focused on four specific topics: (i) professional role, (ii) acceptance and job title, (iii) formal requirements and (iv) remuneration concepts for genetic counsellors in the DACH region. The workshop showed that the key factor for the successful implementation of the genetic counsellor profession is acceptance and trust within the medical genetics team. Genetic counsellors complement patient care in aspects that might be underserved considering the increasing demand of counselling in genomic medicine. Successful establishment of the genetic counsellor profession will entail the development of interprofessional teams under medical supervision and in the team of medical geneticists., (© 2021 Schwaninger et al., published by De Gruyter.)