This EBCOG guidance reviews the current and future status of genomics within fetal and maternal medicine. This document addresses the clinical uses of genetic testing in both screening and diagnostic testing prenatally. The role of genomics within fetal and maternal medicine is described. The research and future implications of genetic testing as well as the educational, ethical and economic implications of genomics are discussed.

BACKGROUND: Obstetricians often times find themselves in a conflict of right and duty with their patients, when these patients refuse recommended treatment. On the one hand, the obstetrician, aiming to fulfil the duty of care, recommends a treatment in the best interest of the woman. The woman, on the other hand, exercising her right of self-determination and autonomy, declines the recommended treatment.
METHODS: A search was conducted for literature, articles and case reports on the subject on PubMed/MEDLINE and Google Scholar using the keywords: medical ethics, medical law, obstetric mortality, maternal medicine, foetal medicine, patient autonomy, informed consent, right to life and right to liberty.
RESULTS: Opinions have historically differed on whether maternal or foetal rights should be deferred to in situations where pregnant women refuse obstetric interventions. So also have legal decisions on the issue. The general consensus is, however, to respect a woman\'s refusal of recommended medical treatment, in deference to her right of self-determination and autonomy. The obstetric outcomes in such instances are however, often times, unfavourable.
CONCLUSIONS: The ethics of patient care in the face of conflicting rights deserves renewed examination and discourse.

To evaluate which risk factors for RhD immunisation remain, despite adequate routine antenatal and postnatal RhIg prophylaxis (1000 IU RhIg) and additional administration of RhIg. The second objective was assessment of the current prevalence of RhD immunisations.
Prospective cohort study.
The Netherlands.
Two-year nationwide cohort of alloimmunised RhD-negative women.
RhD-negative women in their first RhD immunised pregnancy were included for risk factor analysis. We compared risk factors for RhD immunisation, occurring either in the previous non-immunised pregnancy or in the index pregnancy, with national population data derived from the Dutch perinatal registration (Perined).
In the 2-year cohort, data from 193 women were eligible for analysis. Significant risk factors in women previously experiencing a pregnancy of an RhD-positive child (n = 113) were: caesarean section (CS) (OR 1.7, 95% CI 1.1-2.6), perinatal death (OR 3.5, 95% CI 1.1-10.9), gestational age >42 weeks (OR 6.1, 95% CI 2.2-16.6), postnatal bleeding (>1000 ml) (OR 2.0, 95% CI 1.1-3.6), manual removal of the placenta (MRP) (OR 4.3, 95% CI 2.0-9.3); these factors often occurred in combination. The miscarriage rate was significantly higher than in the Dutch population (35% versus 12.-5%, P < 0.001).
Complicated deliveries, including cases of major bleeding and surgical interventions (CS, MRP), must be recognised as a risk factor, requiring estimation of fetomaternal haemorrhage volume and adjustment of RhIg dosing. The higher miscarriage rate suggests that existing RhIg protocols need adjustment or better compliance.
Complicated delivery (caesarean section, manual removal placenta, major bleeding) is the most valid risk factor for RhD immunization despite antenatal and postnatal RhIg.

Foetal therapy aims to improve perinatal survival or to prevent severe long-term handicap. Foetal medicine opens a new territory by treating the foetus as a patient. The mother has nothing to gain in terms of health benefits, yet she is inherently also undergoing treatment. In utero foetal interventions can be divided into ultrasound-guided minimally invasive procedures, fetoscopic procedures and open hysterotomy procedures, which carry an inherent risk of ruptured membranes and preterm birth. In this review, we summarise the conditions that may benefit from foetal therapy and review the current therapies on offer, each with their associated risk of ruptured membrane and preterm birth. We also look into some risk limiting and preventative strategies to mitigate these complications.

Prenatal restriction of the ductus arteriosus can manifest as persistent pulmonary hypertension in the newborn, especially dangerous with the transposition of the great arteries. Its aetiology has long been related to maternal intake of non-steroidal anti-inflammatory drugs; however, some other substances, including polyphenols, may have similar properties. We describe a case of complete prenatal closure of the ductus arteriosus in the foetus with transposition of the great arteries. The newborn presented with pulmonary hypertension unresponsive to pharmacotherapy and died of multi-organ failure.

Regular audit of results of prenatal screening for congenital heart disease (CHD) is crucial to ensure reliable prenatal diagnosis. We aimed to assess the accuracy of prenatal diagnosis of major CHD between 1996 and 2013. During the study period, prenatal detection of major CHD improved from 4.5% to 71.0% (p<.001). Prenatal diagnoses on 628 live born children and terminated pregnancies were compared with postnatal findings or autopsy reports. The proportion of correct diagnoses increased throughout the study period from 42.9% in 1996 and reached 88.2% in 2013 (p<.001). A total of 32 foetuses with suspected major CHD were terminated though no major CHD was found at autopsy. In these pregnancies, termination was mainly performed due to other anomalies in the foetus.Along with improved detection of major CHD, the validity of a prenatal diagnosis is increasing. No cases of misinterpreted major CHD resulted in the termination of a healthy foetus in this study.Impact statementWhat is already known on this subject? Prenatal diagnosis of isolated congenital heart disease (CHD) correlates well with lesions found during autopsy performed in terminated foetuses. Few studies have assessed the accuracy of prenatal diagnosis of major CHD in live born children, cases with associated anomalies and the time trend in validity.What the results of this study add? This study illustrates that the validity of prenatal diagnosis of major CHD is increasing. Prenatal diagnoses in terminated pregnancies as well as in live born children is high except for coarctation of the aorta and atrioventricular septal defects. Chromosomal anomalies are associated with lower accuracy of prenatal diagnosis.What the implications are of these findings for clinical practice and/or further research? Prenatal diagnosis is an accurate tool for detecting major CHD. Misinterpretation has not led to the termination of a healthy foetus; however, this study illustrates that vigilant care should be placed on the cardiac evaluation when termination is considered due to the cardiac defect.

This is a retrospective analysis of the patient demographics and cytogenetic results of patients who underwent prenatal invasive testing for genetic analysis at the Foetal Medicine Division of the Department of Obstetrics and Gynecology, Sri Ramachandra Medical College and Research Institute. The main objective of this study was to characterise the changing trends in indications of pregnant women for foetal karyotyping in a 7-year period. A total of 257 procedures were performed in this period, and there was a significant change in the trend of indications for invasive prenatal diagnosis from an advanced maternal age in 2009 to a positive screen test by 2014. Chromosome abnormalities were observed in 9.8% of the cases, with trisomy 21 being the most frequent finding. The findings demonstrate the changing trends in screening and diagnostic testing in the tertiary care centre, with an acceptance of the first and second trimester maternal serum screening tests as a determinant for high-risk pregnancies. Impact statement What is already known on this subject? Despite the fact that India has one of the world\'s highest birth rates, there is still no public health care policy for the application of cytogenetic prenatal diagnosis. Nevertheless, we have been offering this test in our university teaching hospital since 2008, allowing us to characterise the changing trends in indications of pregnant women who sought invasive diagnostic procedures for foetal genetic studies. What do the results of this study add? The results of our study show that there were major changes in the common indications for prenatal diagnosis during the study period. In 2009, the main indication was an advanced maternal age, referred to in 31% of the cases, which declined steadily to 5% by 2014. In 2014, 51% of cases opted for a prenatal diagnosis because of a first trimester screen positive result, increasing from 12% in 2009. What are the implications of these findings for clinical practice and/or further research? This data is relevant as it would encourage other tertiary hospitals in developing countries like India to consider extending first trimester screening for all women, regardless of age and educate them on the options of prenatal genetic diagnosis for reassurance.

The aim of this study was to assess the incidence of and to analyse factors related to the recurrence of small-for-gestational-age (SGA) neonates in the second pregnancy. A prospective observational study was conducted at a tertiary university hospital in Granada, Spain. A total of 7896 women who delivered their first and second singleton pregnancies at the hospital from 2003-2013 were included and evaluated all birth weights. Women whose first pregnancy was complicated by a SGA birth had a fivefold increased risk of recurrence (23.6% vs. 5.7%, p < .001). Multivariate analyses revealed that only SGA at first birth retained a statistically significant relationship, revealing that the other variables (maternal age, gestational age, interdelivery interval, maternal pre-pregnancy body mass index, occupation of the mother, smoking, hypertension, and diabetes mellitus) were confounders. Prevention of SGA in subsequent pregnancies by modification of established risk factors could be of limited utility based on the present results, supporting a genetic contribution to SGA recurrence. Impact statement The results support a genetic contribution on recurrence of SGA.

BACKGROUND: During prenatal screening of pregnant women, foetal anomalies requiring surgery may be diagnosed. Healthcare providers should have a basic knowledge of these diseases, including their workup, comorbidities, prognosis, treatment options and any considerations that need to be made in planning for birth.
OBJECTIVE: This article aims to provide this information by summarising the most recent literature for some of the most commonly diagnosed foetal anomalies requiring surgical correction.
METHODS: English language studies on prenatal diagnostic modalities, abdominal wall defects, congenital diaphragmatic hernias, surgical conditions leading to airway compromise, hydrops fetalis, intestinal obstruction and abdominal cysts were retrieved from the PubMed database.
RESULTS: The most recent and relevant literature is summarised regarding the above listed paediatric conditions. The incidence and prevalence (when available), prognosis, workup, common comorbidities, foetal interventions and special birth considerations (when applicable), and postnatal surgical treatment options are reviewed.
CONCLUSIONS: Healthcare providers will occasionally encounter foetal anomalies which may require surgery while performing prenatal screening. They may need to provide early counselling to expectant parents to inform their expectations. When indicated, referrals should be made to a foetal care centre for prenatal consultation. For conditions which may cause danger or distress to the foetus in the immediate postnatal period, preparations should be made to ensure sufficient resources are available at the location of birth.