The increasing availability of chromosomal microarray (CMA), exome and genome analysis for prenatal diagnostic testing, together with concerns of potential legal consequences in cases of missed diagnoses, has contributed to substantial uncertainty in prenatal medicine. To support consistent and clinically meaningful use of genetic diagnostics in Austria, the working group for prenatal genetic diagnostics reviewed existing guidelines and recommendations and agreed on a consensus addressing eight key questions arising from clinical practice. Given the limited predictive value of genomic findings in structurally normal fetuses, the working group recommends a strictly phenotype-driven diagnostic approach with CMA, exome and genome analysis to be systematically offered in the presence of fetal pathologies.

Prenatal testing for genetic disorders is part of routine clinical practice. Trisomy 21 can now be detected with high sensitivity using non-invasive tests on maternal blood. In cases with other suspected genetic anomalies or structural malformations, invasive testing is required and can be performed with low risk of complications. Genetic analyses such as microarray and trio whole exome sequencing have led to improved diagnostic yield but can also cause uncertainty and difficult counselling situations. Prenatal testing for genetic disorders in the foetus raises ethical and legal questions: Some couples may wish to exercise their 'right not to know', while others might take legal action if a genetic abnormality that could have been diagnosed prenatally and would have justified termination of the pregnancy for the couple is only detected after birth. More recent approaches explore prenatal drug therapies based on specific disease-causing variants.

Monozygotic (MZ) twins sharing a placenta are known as monochorionic (MC) and account for approximately two-thirds of MZ twin pregnancies. MC twins discordant for a congenital anomaly are of particular interest as they challenge the common idea of "identical" monozygotic twins. We have performed a retrospective study including 51 monochorionic multiple pregnancies with discordant anomalies that received care at the University Hospital of Graz between 2013 and 2023, aiming to assess the accordance of the observed cases with the existing explanatory models in the literature. This study primarily identified structural discordance, while genetic insights were limited due to the rare decision of parents to undergo further genetic testing. The most frequent anomalies were hydrocephalus, neural tube defects, body-stalk anomaly and congenital heart defects. Acknowledging the limitations related to the sample size and incomplete cohort data, this study supports a growing awareness of the complexity underlying MC twin development, emphasizing the need for more longitudinal genetically and epigenetically focused studies to uncover the subtle and cumulative effects of early contributing factors that ultimately also determine phenotypic expression.

Purpose The purpose of this official guideline, updated and published by the German Society for Gynecology ( Deutsche Gesellschaft für Gynäkologie und Geburtshilfe , DGGG) and coordinated by the joint guidelines program of the DGGG, Austrian Society for Gynecology and Obstetrics ( Österreichische Gesellschaft für Gynäkologie und Geburtshilfe, OEGGG) and Swiss Society for Gynecology and Obstetrics ( Schweizerische Gesellschaft für Gynäkologie und Geburtshilfe , SGGG) is to provide a consensus-based overview of the diagnosis and management of intrauterine growth restriction based on an evaluation of the relevant literature. Methods This S2k-guideline is the result of a structured consensus of representative members from various medical professions. It was compiled at the request of the guidelines commission of the DGGG. Recommendations The guideline provides recommendations on the diagnosis, management, counseling, prophylaxis, and screening of fetal growth restriction.

Das Ziel dieser offiziellen überarbeiteten Leitlinie, die von der Deutschen Gesellschaft für Gynäkologie und Geburtshilfe (DGGG) publiziert und im gemeinsamen Leitlinienprogramm der DGGG, Österreichische Gesellschaft für Gynäkologie und Geburtshilfe (OEGGG) und Schweizerische Gesellschaft für Gynäkologie und Geburtshilfe (SGGG) koordiniert wurde, ist es, durch die Evaluation der relevanten Literatur einen konsensbasierten Überblick über die Diagnostik und das Management der intrauterinen Wachstumsrestriktion zu geben. Diese S2k-Leitlinie wurde durch einen strukturierten Konsens von repräsentativen Mitgliedern verschiedener Professionen im Auftrag der Leitlinienkommission der DGGG entwickelt. Es werden Empfehlungen zur Diagnostik, Management, Beratung, Prophylaxe und Screening der fetalen Wachstumsrestriktion gegeben.

This extensive AWMF 085-002 S2e-guideline "First Trimester Diagnosis and Therapy @ 11-13+6 Weeks of Gestation" has systematically analyzed high-quality studies and publications and the existing evidence (evidence tables) and produced recommendations (level of recommendation, level of evidence, strength of consensus).This guideline deals with the following topics in the context of the 11-13+6 weeks scan: the legal basis, screening for anatomical malformations, screening for chromosomal defects, quality assessment and audit, screening for preeclampsia and FGR, screening for preterm birth, screening for abnormally invasive placenta (AIP) and placenta accreta spectrum (PAS), screening for velamentous cord insertion and vasa praevia, screening for diabetes mellitus and LGA.Screening for complications of pregnancy can best be carried out @ 11-13+6 weeks of gestation. The issues of how to identify malformations, chromosomal abnormalities and certain disorders of placentation (high blood pressure and proteinuria, intrauterine growth retardation) have been solved. The problem of how to identify placenta percreta and vasa previa has been partially solved. What is still unsolved is how to identify disorders of glucose metabolism and preterm birth.In the first trimester, solutions to some of these problems are available: parents can be given extensive counselling and the risk that a pregnancy complication will manifest at a later stage can be delayed and reduced. This means that screening is critically important as it helps in decision-making about the best way to manage pregnancy complications (prevention and intervals between follow-up examinations).If no treatment is available and if a termination of pregnancy is considered, the intervention can be carried out with far lower complications compared to the second trimester of pregnancy. In most cases, further examinations are not required and the parents can be reassured. A repeat examination at around week 20 of gestation to complete the screening for malformations is recommended. NOTE:: The guideline will be published simultaneously in the official journals of both professional societies (i.e. Ultraschall in der Medizin/European Journal of Ultrasound for the DEGUM and Geburtshilfe und Frauenheilkunde for the DGGG).

While substantial literature exists on the intersection of overweight/obesity (OWO) and pregnancy, much of it focuses on specific aspects, making it difficult to maintain an overview of clinically relevant factors for optimal care of OWO women throughout pregnancy. To provide a comprehensive synthesis of the existing literature, covering the full spectrum of clinically relevant information needed to manage OWO women from preconception to birth. For this narrative review a literature search was conducted on PubMed in January 2025. Eligible studies included full-text English articles with data from human subjects, with no restrictions on publication date. The impact of OWO on pregnancy is multifaceted, encompassing four interrelated themes: physiological consequences, emerging risks, challenges in prenatal care, and intervention strategies. OWO women exhibit differences in metabolic and inflammatory pathways compared to normal-weight women, reflected in altered laboratory tests. When managing gestational diabetes and preeclampsia, obesity-related characteristics must be considered. Clinicians need to be alert of obesity-mediated fetal complications, including overgrowth, malformations, stillbirth, and preterm birth, while navigating challenges in ultrasound measurements. Interventions during the preconception and prenatal periods provide key opportunities to optimize maternal weight and reduce the risk of long-term disease development. The review’s insights enhance clinical practice and call on researchers and policymakers to prioritize strategies that offer early counseling for obese pregnant women. These initiatives aim to optimize outcomes for both mother and child and contribute to combating the global obesity crisis.

This extensive AWMF 085-002 S2e-guideline "First Trimester Diagnosis and Therapy @ 11-13(+6) Weeks of Gestation" has systematically analyzed high-quality studies and publications and the existing evidence (evidence tables) and produced recommendations (level of recommendation, level of evidence, strength of consensus). This guideline deals with the following topics in the context of the 11-13(+6) weeks scan: the legal basis, screening for anatomical malformations, screening for chromosomal defects, quality assessment and audit, screening for preeclampsia and FGR, screening for preterm birth, screening for abnormally invasive placenta (AIP) and placenta accreta spectrum (PAS), screening for velamentous cord insertion and vasa praevia, screening for diabetes mellitus and LGA. Screening for complications of pregnancy can best be carried out @ 11-13+6 weeks of gestation. The issues of how to identify malformations, chromosomal abnormalities and certain disorders of placentation (high blood pressure and proteinuria, intrauterine growth retardation) have been solved. The problem of how to identify placenta percreta and vasa previa has been partially solved. What is still unsolved is how to identify disorders of glucose metabolism and preterm birth. In the first trimester, solutions to some of these problems are available: parents can be given extensive counselling and the risk that a pregnancy complication will manifest at a later stage can be delayed and reduced. This means that screening is critically important as it helps in decision-making about the best way to manage pregnancy complications (prevention and intervals between follow-up examinations). If no treatment is available and if a termination of pregnancy is considered, the intervention can be carried out with far lower complications compared to the second trimester of pregnancy. In most cases, further examinations are not required and the parents can be reassured. A repeat examination at around week 20 of gestation to complete the screening for malformations is recommended. Note The guideline will be published simultaneously in the official journals of both professional societies (i.e. Ultraschall in der Medizin/European Journal of Ultrasound for the DEGUM and Geburtshilfe und Frauenheilkunde for the DGGG).

Monochorionic placentas occur in two-thirds of identical (monozygotic) twin pregnancies and typically feature inter-fetal vascular anastomoses on their surface. These anastomoses can cause very specific complications including twin-to-twin transfusion syndrome (TTTS) in about 10 %, TAPS in 5 %, twin reversed arterial perfusion (TRAP) sequence in 2.5 % and spontaneous intrauterine fetal death (IUFD) in 2 % of monochorionic-diamniotic twin pregnancies. Moreover, unequal sharing of placental territories can lead to selective fetal growth restriction (sFGR) in about 15 %. Monochorionic multiples affected by such complications are at increased risk of mortality, brain abnormalities and neurodevelopmental disorders. This narrative review provides insight into prenatal detection and management of specific complications of monochorionic twin pregnancies.

Objective To determine for the first time the prevalence of iron deficiency (ID) in Austrian pregnant population. Design Prospective cross-sectional multicentre study. Setting Six hospitals in Austria Population A cohort of 425 pregnant women Methods Patients were classified into four groups of different weeks of gestation. Group 1 was monitored longitudinally, while groups 2 to 4, iron status was sampled only once. Main Outcome Measures Evaluation of the prevalence of ID by comparing the diagnostic criteria of the WHO to the cut-off proposed by Achebe MM and Gafter-Gvili A (Achebe) and the Austrian Nutrition Report (ANR). Results In comparison with the ANR, the prevalence of ID was lower in group 1 and higher in group 2-4 (17.2 % vs 12.17 %, 25.84%, 35.29 % and 41.76 %, respectively) (p-values < 0.01 except group 1). Using WHO’s definition, the prevalence in group 1 was 12,17 % at inclusion, 2 months later 31.7% and further 2 month later 65,71 %, respectively. Using the Achebe definition number of cases doubled (for group 1 the number of cases rose from 13 to 42 (115 patients total); for groups 2 through 4 we observed an increase from 112 to 230 (340 patients total). Conclusions This study showed a prevalence of around 12 % at the beginning of pregnancy, which increased during pregnancy up to 65 %. ID can have a massive impact on the quality of life, so that screening would be entirely justified, as iron deficiency would be easy to diagnose and treat.

This extensive AWMF 085-002 S2e-guideline "First Trimester Diagnosis and Therapy @ 11 - 13 +6 of Gestation" has systematically analyzed high-quality studies and publications and the existing evidence (evidence tables) and produced recommendations (level of recommendation, level of evidence, strength of consensus). This guideline deals with the following topics in the context of the 11 - 13 +6 weeks scan: the legal basis, screening for anatomical malformations, screening for chromosomal defects, quality assessment and audit, screening for preeclampsia and FGR, screening for preterm birth, screening for abnormally invasive placenta (AIP) and placenta accreta spectrum (PAS), screening for velamentous cord insertion and vasa praevia, screening for diabetes mellitus and LGA. Screening for complications of pregnancy can best be carried out @ 11 - 13 +6 weeks of gestation. The issues of how to identify malformations, chromosomal abnormalities and certain disorders of placentation (high blood pressure and proteinuria, intrauterine growth retardation) have been solved. The problem of how to identify placenta percreta and vasa previa has been partially solved. What is still unsolved is how to identify disorders of glucose metabolism and preterm birth. In the first trimester, solutions to some of these problems are available: parents can be given extensive counselling and the risk that a pregnancy complication will manifest at a later stage can be delayed and reduced. This means that screening is critically important as it helps in decision-making about the best way to manage pregnancy complications (prevention and intervals between follow-up examinations). If no treatment is available and if a termination of pregnancy is considered, the intervention can be carried out with far lower complications compared to the second trimester of pregnancy. In most cases, further examinations are not required and the parents can be reassured. A repeat examination at around week 20 of gestation to complete the screening for malformations is recommended. Note: The guideline will be published simultaneously in the official journals of both professional societies (i.e. Ultraschall in der Medizin/European Journal of Ultrasound for the DEGUM and Geburtshilfe und Frauenheilkunde for the DGGG).

In the final months of the year 2023, a ruling of the Austrian Supreme Court of Justice (OGH) caused concern and uncertainty among many colleagues specialized in prenatal ultrasound examinations. In short, an Austrian gynecologist was found liable for damages and is required to assume all child maintenance costs because he failed to detect the complete absence of the fetus's left arm (amelia) during multiple ultrasound examinations conducted in 2018 including first-trimester screening and second trimester anomaly scan (OGH 3 Ob 9/23 d dated 11/21/2023).

Die fetale Wachstumsrestriktion (FGR, fetal growth restriction; oder auch IUGR, intrauterine growth restriction) ist eine häufige Schwangerschaftskomplikation (ca. 8 % aller Geburten (Statistisches Bundesamt 2018)), die zu perinatalen Komplikationen führen kann. Es gibt keine einheitliche Definition oder diagnostische Kriterien für FGR, was zu Unsicherheiten im Management und Zeitpunkt der Geburt führt. Obwohl es Ansätze gibt, um ein Hochrisikokollektiv für Plazentastörungen und FGR zu erkennen, erfolgen im Allgemeinen regelmäßige fetometrische Ultraschalluntersuchungen. Die Unterscheidung zwischen konstitutionell kleinen Feten und kleinen Feten aufgrund einer zugrunde liegenden Pathologie ist schwierig, aber je geringer das fetale Wachstum ist, desto höher ist die Wahrscheinlichkeit für eine FGR. Eine Verlaufssonografie mit Erhebung biometrischer Parameter ermöglicht u. U. zwischen diesen beiden Entitäten zu differenzieren. Die große Herausforderung im Management der frühen FGR (< 32 + 0 SSW) ist die Optimierung des Entbindungszeitpunktes, die der späten FGR (ab 32 + 0 SSW) das Erkennen einer solchen.