Prenatal Diagnosis Of Fetal Anomalies Research Articles

Prenatal diagnosis of fetuses with ultrasound anomalies by whole-exome sequencing in Luoyang city, China.

Background: There is a great obstacle in prenatal diagnosis of fetal anomalies due to their considerable genetic and clinical heterogeneity. Whole-exome sequencing (WES) has been confirmed as a successful option for genetic diagnosis in pediatrics, but its clinical utility for prenatal diagnosis remains to be limited. Methods: A total of 60 fetuses with abnormal ultrasound findings underwent karyotyping or chromosomal microarray analysis (CMA), and those with negative results were further subjected to WES. The identified variants were classified as pathogenic or likely pathogenic (P/LP) and the variant of uncertain significance (VUS). Pregnancy outcomes were obtained through a telephone follow-up. Results: Twelve (20%, 12/60) fetuses were diagnosed to have chromosomal abnormalities using karyotyping or CMA. Of the remaining 48 cases that underwent WES, P/LP variants were identified in 14 cases (29.2%), giving an additional diagnostic yield of 23.3% (14/60). The most frequently affected organ referred for prenatal WES was the head or neck system (40%), followed by the skeletal system (39.1%). In terms of pathogenic genes, FGFR3 was the most common diagnostic gene in this cohort. For the first time, we discovered five P/LP variants involved in SEC24D, FIG4, CTNNA3, EPG5, and PKD2. In addition, we identified three VUSes that had been reported previously. Outcomes of pregnancy were available for 54 cases, of which 24 cases were terminated. Conclusion: The results confirmed that WES is a powerful tool in prenatal diagnosis, especially for fetuses with ultrasonographic anomalies that cannot be diagnosed using conventional prenatal methods. Additionally, newly identified variants will expand the phenotypic spectrum of monogenic disorders and greatly enrich the prenatal diagnostic database.

Attitudes of Maternal Fetal Medicine specialists on prenatal diagnosis, disability and termination

ObjectiveTo identify the key attitudes and opinions of Maternal-Fetal Medicine specialists (MFMs) who counsel expectant mothers with a prenatal diagnosis of fetal anomaly surrounding prenatal genetic testing, disability and termination. MethodsWe conducted in-depth semi-structured interviews with MFMs across the United States. Participants were recruited through the snowball method beginning with referrals from the MFM on our study team, AM. Interviews were audio-recorded, transcribed, and qualitatively analyzed for themes using modified grounded theory by three reviewers. Results2227 codes from 17 interviews were grouped into 18 themes, which were then characterized into six over-arching, topic-oriented clusters: 1) Physician Methodology; 2) Physician Perception of Disability; 3) Physician Experience; 4) Physician-Patient Relationship; 5) Patient Experience; and 6) Termination. Patients’ misunderstanding of prenatal genetic screening, diagnostic technology, the implications of certain genetic anomalies, and limited time to explain these factors were identified as major barriers to effective counseling. All MFMs described themselves as informants in the prenatal diagnostic process, and all offered their patients termination following a diagnosis of a severe or lethal congenital anomaly; however, MFMs did not identify a consistent definition of severe or lethal congenital anomaly. MFMs reported fears of being perceived as coercive by patients and a high degree of moral and emotional distress during consultations. Finally, MFMs identified legal, financial and structural barriers that prevented patients from accessing prenatal genetic diagnostic services and termination services. It was felt that these limitations ultimately inhibited autonomous decision making by patients. ConclusionsThese findings highlight important barriers faced by MFM providers when trying to provide effective counseling to expectant mothers carrying a prenatal diagnosis of fetal anomaly. Further exploration of these identified barriers may lead to the development of strategies to improve prenatal counseling.

Prevalence of Maternal Psychological Distress in pregnant women who receipt prenatal diagnosis of fetal Central Nervous System (CNS) anomalies

IntroductionWomen receiving a prenatal diagnosis of fetal anomalies are a high-risk population for psychological distress leading to mood disorders. Even so, to date we have no evidence of studies who investigated the levels of maternal anxiety and depression in pregnant women receiving a prenatal diagnosis of fetal CNS anomalies.Objectives The aim of this study was to assess the prevalence of anxiety and depression levels in a pilot sample of pregnant women at the Prenatal Diagnostic Unit of the Bambino Gesù Children Hospital.MethodsWe collected data among 43 women who receipt fetal brain anomaly diagnosis (mean age: 35 yrs, SD ± 6.3, range 19-48 yrs; mean week at first access 26w, SD ± 3.9, range 18-33w). Prenatal diagnosis including: ventriculomegaly (37.2%), posterior cranial fossa (23.3%), choroid plexus cysts (11.6%), anomalies of CC (7%) and other (20.9%). Pregnancies with assisted reproductive technology were 14%. We use the Patient Health Questionnaire (PHQ-9) and the Generalized Anxiety Disorders (GAD-7) questionnaires to assess anxious-depressive symptoms.Resultsshowed a rate of mild-to-severe anxious depressive symptoms by 60.5% and 48.8% respectively. In detail: 41.9% mild, 14% moderate and 4.7% of severe anxiety. Meanwhile, 41.9% mild and 7% moderate depression. The prevalence of comorbid depressive and anxiety symptoms was 39.5% among the entire sample.ConclusionsPreliminary data showed a high prevalence of anxious depressive symptoms and comorbidity among pregnant with CNS fetal anomalies. Women receiving a fetal CNS anomaly diagnosis may need additional psychological support or counselling.DisclosureNo significant relationships.

Epidemiology of Multiple Congenital Anomalies Before and After Implementation of a Nationwide Prenatal Screening Program in Denmark.

Surveillance of congenital anomalies is important in order to detect negative influences from environment, medication, or lifestyle as early as possible. Since most teratogens are associated with a spectrum of birth defects rather than a single defect, analysis of the epidemiology of multiple congenital anomalies is important to detect an increase due to environmental or medicine exposure. The aim of the study was to describe changes in prevalence, types of anomalies, and outcome of pregnancies for fetuses and infants with multiple congenital anomalies before and after introduction of the new screening program in the County of Funen, Denmark. The study was based on data from the EUROCAT registry of the County of Funen for the period 1990 to 2014 covering 135,057 births. The registry includes information about livebirths, fetal deaths after 20 weeks of gestation and terminations of pregnancy after prenatal diagnosis of fetal anomalies. All cases with two or more major congenital anomalies in different organ systems, where the pattern of anomalies were not recognized as part of a chromosomal or genetic syndrome or a sequence were included in the study. Overall prevalence of multiple congenital anomalies was 19.7 per 10,000 pregnancies. There was no significant change in prevalence over time. The prenatal detection rate increased from 26 to 57% after introduction of the screening program (p < 0.001). Proportion of terminations of pregnancy increased from 11 to 30% of all cases and 1-week survival for livebirths increased from 64 to 94%. There was no change in combinations of involved organ systems. The implementation of the new screening program in 2004 has led to an increased prenatal detection rate of multiple congenital anomalies followed by an increased rate of termination of pregnancy for the most severe cases and an increased 1-week survival for liveborn infants with multiple congenital anomalies.

Moving beyond the diatribe on ultrasound vs MRI

Linked article: This Correspondence comments on van der Knoop et al. Click here to view the article.

Prenatal diagnosis of fetal anomalies from the third to the first trimester and back.

Prenatal diagnosis of fetal anomalies from the third to the first trimester and back.

Fetal anomalies on USG

USG has been the key invention of the last century and has helped tremendously in the science of pre-natal diagnosis of fetal anomalies. According to leading studies across the globe around 1% to 3% of living newborns have a congenital malformation. Although getting exact statistics in our country is a herculean task, it may be more than the developed nations as access to tertiary care is not easy in all parts of the country. This study includes a discussion of prenatal diagnosis by sonography and its contribution to the provision of accurate and precise prenatal diagnosis.

4D Sonography in Prenatal Diagnosis of Fetal Anomalies in First &amp;Second Trimester of Pregnancy.

Background: One of the most consistently used justifications for the use of obstetric ultrasound is that, accurate diagnosis of fetal malformations before delivery can provide health care providers and parents a number of management options. Aim: evaluate the role of 4D ultrasound in assessment and detection of fetal congenital anomalies, in 1st & 2nd trimester of pregnancy. Subjects & Methods: Fifty women were examined by 2D followed by 4D US, and 52 detected anomalies. Results: Our results demonstrate an advantage of 4D US over 2DUS in 13 % of cases, equal findings in 30%, and less information in 17 % of anomalies detected. Four dimensional US is advantageous in some anomalies of the face and extremities only. Conclusion: 2D US remains the gold standard in assessment of fetal anomalies, and 4D US, therefore, is not a screening technique but an adjunct to 2D US for those fetuses in whom malformations are already determined or suspected on the basis of standard sonography.

Shouldering Moral Responsibility: The Division of Moral Labor among Pregnant Women, Rabbis, and Doctors

ABSTRACTThis article contributes to the anthropology of morality through an ethnographic focus on the consultations of religiously observant Jews with rabbis and medical specialists regarding dilemmas surrounding prenatal diagnosis of fetal anomalies. Our ethnography looks at religious couples who consult rabbinic authorities on their reproductive dilemmas rather than making autonomous decisions and the procedures of decision‐making that rabbis enact. We examine the rabbis’ emic practice of dividing moral labor and outsourcing it in a chain reaction to various medical and rabbinic experts. The purpose of outsourcing moral decisions and aggregating expert opinions is to lighten the heavy weight of moral responsibility for consultees as well as for the rabbinic consultants. In seeking expert consultations, people might actually be opting for liberation from freedom of choice—at least as defined in the model of autonomous decision‐making—rather than merely submitting to an authoritative doctrinarian power, whether of religion or biomedicine. [moral labor, religion, prenatal diagnosis, biomedicine, Orthodox Jews]

Teleultrasound for pre-natal diagnosis: A validation study.

There are no large validation trials comparing teleultrasound to on-site ultrasound. We aim to compare the sensitivity and accuracy of teleultrasound and demonstrate that teleultrasound is not inferior to on-site ultrasound in the pre-natal diagnosis of fetal anomalies. All targeted ultrasounds performed between November 2010 and December 2012 were considered. We excluded studies performed at less than 17weeks' gestation, on multiple gestations and for reasons other than an anatomical survey. Post-natal diagnoses were obtained from a state level mandatory birth defects surveillance programme. Descriptive statistics (sensitivity, specificity, positive and negative predictive values and accuracy) were calculated for both groups. A test of non-inferiority was performed, with the non-inferiority difference set at 0.15. The teleultrasound and on-site ultrasound groups consisted of 2368 and 3145 studies, respectively. The sensitivity of teleultrasound and on-site ultrasound was 57.46% and 76.57%, and the accuracy was 95.9% and 90.97%, respectively. The observed sensitivity difference was -0.1911. The accuracy, specificity, positive and negative predictive values of teleultrasound are similar to on-site ultrasound. Teleultrasound is inferior to on-site ultrasound in the detection of fetal anomalies; however, it has improved accuracy, as well as higher negative and positive predictive values. A negative teleultrasound is more likely to identify a non-anomalous fetus, and a positive teleultrasound is more likely to correctly identify an anomalous fetus. Teleultrasound has an important role in pre-natal diagnosis for those patients unable or unwilling to travel for an on-site ultrasound.

Pregnancy outcomes in patients with multiple sclerosis treated with teriflunomide: Clinical study data and 5 years of post-marketing experience

Background: Teriflunomide is contraindicated in pregnancy. Some pregnancies have occurred despite guidance to use effective contraception. Objectives: To report outcomes of pregnancies occurring in teriflunomide clinical trials and the post-marketing setting. Methods: Outcomes are summarized for pregnancies in teriflunomide monotherapy clinical trials and the post-marketing setting (data cutoff: December 2017). Results: Of 437 confirmed teriflunomide-exposed pregnancies, 222 had known outcomes (70 from clinical trials; 152 from the post-marketing setting); 161 were reported prospectively and 61 retrospectively. There were 107 (48.2%) live births, 63 (28.4%) elective abortions, 47 (21.2%) spontaneous abortions, 3 (1.4%) ectopic pregnancies, 1 (0.5%) stillbirth, and 1 (0.5%) maternal death leading to fetal death. Four birth defects were reported among cases with known pregnancy outcome: ureteropyeloectasia (only defect considered major); congenital hydrocephalus; ventricular septal defect; and malformation of right foot valgus. A case of cystic hygroma was identified on antenatal ultrasound (pregnancy outcome unknown). One elective abortion followed prenatal diagnosis of fetal anomaly (blighted ovum). The risk of major birth defects in prospectively reported live birth/stillbirth outcomes was 3.6% (1/28) in clinical trials and 0.0% (0/51) in post-marketing reports. Conclusions: Outcomes were consistent with the general population. Current human data do not indicate a teratogenic signal in teriflunomide-exposed pregnancies.

Informational needs of pregnant women following the prenatal diagnosis of fetal anomalies: A qualitative study in Iran.

INTRODUCTION:An appropriate exchange of information between the health-care provider and the family is an important component of coping with stress following the prenatal diagnosis of fetal anomalies. Therefore, this study was conducted to explore the informational needs of pregnant women following a prenatal diagnosis of fetal anomalies in Mashhad, Iran.SUBJECTS AND METHODS:This qualitative, conventional, content analysis study was designed through two referral centers for fetal anomaly. The data were collected from April 2017 to January 2018 in Mashhad (Iran) through individual semi-structured in-depth interviews, from 25 pregnant women with a prenatal diagnosis of fetal anomalies.RESULTS:Three categories and nine subcategories emerged. Category 1, information needed for clarifying the diagnosed anomaly and making a decision, containing four subcategories: The need to know the reasons of doing more diagnostic tests; The need to know the facts regarding the anomaly and its cause; The need for more information to gain control over the situation; and The need to know about legal permission for therapeutic abortion. Category 2, Information needed for preparing to the future, containing three subcategories: Practical and economic issues; The delivery and postnatal situation; and Future mortality and morbidity of especial anomaly. Category 3, the adequacy of the information provided, containing two subcategories: Information overload and Inadequate information.CONCLUSIONS:Pregnant women receiving a prenatal diagnosis of fetal anomaly have a variety of information needs that are not adequately met by the health-care providers. Further research is required for finding a means to meeting this information need.

Emotional and Cognitive Experiences of Pregnant Women Following Prenatal Diagnosis of Fetal Anomalies: A Qualitative Study in Iran

ABSTRACTBackground:Pregnant women are often ill-prepared for the health of their unborn child in the case of abnormal findings, and experience several difficulties following the detection of fetal anomalies. Therefore, this study was conducted to explore the emotional and cognitive experiences of pregnant women following prenatal diagnosis of fetal anomalies in Mashhad, Iran. Methods:This qualitative conventional content analysis study was designed through two referral centers for fetal anomaly. The data were collected from April 2017 to January 2018 in Mashhad (Iran) through individual semi-structured in-depth interviews, from 25 pregnant women with a prenatal diagnosis of fetal anomalies. Results: Four categories and 10 subcategories emerged. Category one, grief reactions during the time of diagnosis, contained two subcategories: shocked and panicked, and distressed and disbelieved.Category two, perinatal loss through a pregnancy termination, contained four subcategories: guilt and shame during pregnancy termination, loss of their expected child, suffering and emotional distress process, and unmet needs by health professionals. Category three, fears of recurrence in future pregnancies, had two subcategories: worried about inadequate prenatal care in the future pregnancies and worried about abnormal fetus in next pregnancies. Finally, Category four, a dilemma between hope and worries contained two subcategories: hope for normality and worried about future. Conclusion:It is important to monitor emotional reactions of women following prenatal anomaly diagnosis. So, training clinicians and health-care professionals for proper response to grief reaction in post therapeutic abortion is essential.

Coping Strategies of Pregnant Women with Detected Fetal Anomalies in Iran: A Qualitative Study.

Background:Progressing technology has increased the detection of fetal abnormalities in the pregnancy. Detection of fetal abnormalities during pregnancy can cause significant social, physical, psychological, and emotional stress. The aim of this study was to explore the coping strategies of Iranian pregnant women with detected fetal anomalies.Materials and Methods:This qualitative content analysis study was conducted on two referral centers for fetal anomaly. The data were collected from April 2017 to January 2018 in Mashhad (Iran) through individual, semistructured, in-depth interviews with 25 pregnant women with a prenatal diagnosis of fetal anomalies. Data were analyzed using conventional content analysis based on Graneheim and Lundman's approach.Results:As a result of data analysis, the four categories of seeking information, religiousness and spirituality, cognitive avoidance, and seeking social support, and 12 subcategories emerged. Seeking information consisted of the four subcategories of personal search, visiting different doctors, performing various diagnostic tests and sonography, and seeking peers' experiences. Religiousness and spirituality contained the three subcategories of praying, acceptance of destiny, and reliance on faith. Cognitive avoidance consisted of the two subcategories of avoiding negative information and avoiding situations that remind them of their problem. Seeking social support contained the three subcategories of getting support from family, getting support from friends, and getting support from others.Conclusions:The findings showed that pregnant women with detected fetal anomalies reported a variety of coping strategies. Therefore, it is important that healthcare providers encourage mothers to use strategies that are likely to be more effective.

Teleultrasound: A Validation Study [15P

INTRODUCTION: Ultrasound serves an important role in the prenatal diagnosis of fetal anomalies. There has been an increase in the use of teleultrasound protocols for fetal anatomical surveys. Despite the rising popularity of this modality, there are no large studies comparing the sensitivity and specificity of teleultrasound to on-site ultrasound. METHODS: This is a retrospective noninferiority study comparing teleultrasound to on-site ultrasound. We included all ultrasound studies performed for anatomical survey. We excluded those performed at &lt; 17 weeks' gestation and on patients with multiple gestations. Every study was interpreted by a Maternal-Fetal Medicine specialist. Prenatal diagnoses were compared to postnatal diagnoses obtained from a mandatory statewide birth defects surveillance registry. RESULTS: During the study period, 5,430 ultrasounds met the inclusion criteria; there were 2,341 studies in the teleultrasound group and 3,089 studies in the on-site ultrasound group. The sensitivity, specificity and accuracy of teleultrasound were 53.96%, 98.14% and 95.51% respectively. The sensitivity, specificity and accuracy of on-site ultrasound were 68.29%, 92.95% and 90.16% respectively. We compared the two groups using the Farrington-Manning score test for noninferiority with a 0.15 noninferiority margin and 90% confidence interval. The proportion differences for sensitivity, specificity and accuracy were -0.1433 (CI -0.2240 – 0.0626), 0.0518 (CI 0.0369 – 0.0668) and 0.0535 (CI 0.0381 – 0.0689). CONCLUSION: The sensitivity of teleultrasound is inferior to that of on-site ultrasound. Teleultrasound is less likely to detect fetal anomalies, but is comparable to on-site ultrasound in identifying the specific anomaly. In addition, teleultrasound is comparable to on-site ultrasound in identifying non-anomalous fetuses.

The emotional process from diagnosis to birth following a prenatal diagnosis of fetal anomaly: A qualitative study of messages in online discussion boards

Objectiveto explore written statements found in online discussion boards where parents currently expecting, or with previous experience of expecting, a child with a prenatally diagnosed congenital anomaly communicate about their emotional process from diagnosis to birth. Designcross-sectional qualitative study of messages in public online discussion boards. SettingSwedish public discussion boards about reproductive subjects. Sampleten pregnant women and eight parents (of children with prenatal diagnoses) who had written 852 messages in five threads in Swedish online discussion boards identified via systematic searches. Measurements and findingsthree phases were identified in the process of moving from the diagnosis to the birth: shock, existential crisis, and life remodeling. The people posting message (‘posters’) moved from initial shock to existential crisis and, lastly, a phase of remodeling life later in the pregnancy. During the pregnancy, considerable worries about both antenatal and postnatal aspects were expressed. To cope with their situation, the posters distanced themselves from the diagnoses, vented their feelings, sought control, and obtained practical support from friends and relatives. Key conclusionsexpectant parents faced with a prenatal diagnosis move from initial shock to a phase of life remodeling and acceptance. Burdened with considerable worries, expectant parents cope with their situation through informational, emotional, and instrumental support from health professionals, family, friends, and peers. Implications for practicehealth professionals should make sure that expectant parents feel involved in planning their children's postnatal care, that they are offered sufficient information, and that they have access to emotional and instrumental support structures.

Evaluation of Array Comparative genomic Hybridisation in prenatal diagnosis of fetal anomalies: a multicentre cohort study with cost analysis and assessment of patient, health professional and commissioner preferences for array comparative genomic hybridisation

BackgroundCurrent pathways for testing fetuses at increased risk of a chromosomal anomaly because of an ultrasound anomaly involve karyotyping after rapid aneuploidy exclusion. Chromosomal microarray (CMA) may detect more clinically significant chromosomal imbalances than karyotyping but evidence to guide UK health service providers on whether or not CMA should replace karyotyping is limited.Objectives(1) To compare detection rates of copy number variants (CNVs) and laboratory turnaround times (TATs) by karyotyping and CMA in fetuses with ultrasound anomalies, (2) to calculate test costs and the cost per additional pathogenic CNV detected by CMA relative to karyotyping and (3) to determine what factors influence parents’ and health professionals’ choice and decision-making about CMA.DesignA multicentre experimental research cohort study with an additional cost analysis.SettingA total of 20 fetal medicine units and nine cytogenetic laboratories across England and Wales.ParticipantsWomen with a fetus undergoing quantitative fluorescent polymerase chain reaction (QF-PCR) and karyotyping for clinical indications with (1) one or more structural anomalies identified on ultrasound or (2) an isolated nuchal translucency (NT) of ≥ 3.5 mm.InterventionsKaryotyping and CMA after exclusion of major chromosomal anomalies by QF-PCR. The array design consisted of 8-plex 60,000 60-mer oligonucleotides with a backbone resolution of ≈75 kb.Main outcome measuresRates of abnormal karyotypes and pathogenic CNVs and variants of unknown significance on CMA. Laboratory TATs for karyotyping and CMA. Costs of karyotyping and CMA and cost per additional pathogenic CNV detected by CMA. Parent and health professional attitudes to CMA.ResultsOut of the 1718 probands recruited, 1123 cases with normal QF-PCR and both karyotype and CMA were available for analysis. In the group with structural anomalies (n = 629), CMA detected more CNVs [6.8%, 95% confidence interval (CI) 4.4% to 9.3%] and more pathogenic CNVs (3.5%, 95% CI 1.5% to 5.5%) than karyotyping. In the increased NT group (n = 494), CMA detected more CNVs (4.5%, 95% CI 1.8% to 7.1%) than karyotyping but not more pathogenic CNVs. Compared with karyotyping, median TAT was 3 days [interquartile range (IQR) 0–13 days] longer with CMA but when actual set-up to reporting times were compared, CMA was 5 days (IQR 2–8 days) quicker. Cost calculations of the respective pathways indicated that, per patient, CMA is on average £113 more costly than karyotyping. The incremental cost per extra pathogenic CNV detected by CMA was greater in the increased NT than the structural anomaly group (£9439 vs. £3635). Qualitative evaluation suggested that parents find CMA acceptable, despite the uncertainties it may introduce, and that in the main it is acceptable to health professionals and commissioners.ConclusionsCMA is a robust, acceptable and probably cost-effective method to detect more clinically significant chromosomal imbalances in the anomalous fetus. The results suggest that CMA should replace karyotyping in these care pathways.Future workThe application of CMA (and exome sequencing) on cell-free DNA in maternal plasma.Trial registrationCurrent Controlled Trials ISRCTN01058191.FundingThis project was funded by the Efficacy and Mechanism Evaluation programme, a MRC and NIHR partnership. The funder had no role in the identification, design and conduct of the study and the reporting of the analysis. The funder did recommend the inclusion of the cell-free DNA aspects of the EACH study. Funding was also received from the Great Ormond Street Biomedical Research Centre.

Prevalence of congenital limb defects: Data from birth defects registries in three provinces in Southern Thailand.

This is the first population-based study in Thailand on the prevalence of congenital limb defects (CLD). Data were obtained from recently established birth defects registries in three southern Thailand provinces during 2009-2013. Entries in the birth defects registries included live births, stillbirths after 24 weeks gestational age, and terminations of pregnancy following a prenatal diagnosis of fetal anomaly. The total of 186 393 births recorded included 424 CLD cases, giving an average prevalence of 2.27 per 1000 births (95% CI, 2.05-2.49). The most common CLD was talipes equinovarus (44.1%), followed by polydactyly (13.9%) and syndactyly (9.4%). The prevalence significantly increased with maternal age from 1.81 in mothers aged <30 years to 2.75 in mothers 30 to < 35 years, and to 2.94 in mothers ≥35 years (P = 0.004). Overall 9.4% of the CLDs were syndromic CLD, again with significantly greater percentages in pregnant women aged ≥35 years than the non-syndromic CLD (32.5% vs 17.5% respectively, P = 0.03). In conclusion, the overall prevalence of CLD in the 3 southern Thailand provinces examined was 2.27 per 1000 births, and syndromic CLD was significantly higher in pregnant women aged ≥35 years than younger pregnant women.

Prenatal counselling for congenital anomalies: a systematic review.

Prenatal diagnosis of fetal anomalies may arouse fear, anxiety and distress in parents, and counselling may assist parents to cope with the diagnosis. This systematic review aimed to (1) synthesise the evidence on the impact of non-genetic, prenatal counselling after fetal diagnosis of a congenital anomaly on parental knowledge and psychological adjustment and (2) identify parents' preferences for the timing and format of counselling. Five electronic databases were systematically searched to identify studies assessing prenatal counselling provided to parents after prenatal diagnosis of one or more structural congenital anomalies. Data were extracted using predefined data forms, according to the preferred reporting items for systematic reviews and meta-analyses guidelines, and synthesised. Twenty four articles were included for review; most articles reported results of retrospective surveys and the quality of included studies was variable. Only three studies assessed parental anxiety, and each reported a significant decrease in anxiety following prenatal counselling. Parents expressed a preference for counselling on all aspects of their baby's anomaly as soon as possible after prenatal diagnosis, and desired written, visual and web-based information resources, and support group contacts. Although prenatal counselling reduced parental anxiety, further research is needed to adequately assess the impact of prenatal counselling on other psychological outcomes. © 2016 John Wiley & Sons, Ltd.

Experiences and preferences of care among Swedish immigrants following a prenatal diagnosis of congenital heart defect in the fetus: a qualitative interview study.

BackgroundImmigrants experience significant challenges when in contact with healthcare and report less satisfaction with maternity care compared to native Swedes. Research that gives voice to pregnant immigrant women and their partners following a prenatal diagnosis of a fetal anomaly is scarce. Thus, the aim of this study was to explore experiences and preferences of care following a prenatal diagnosis of congenital heart defect among Swedish immigrants.MethodsPregnant immigrants and their partners were consecutively recruited following a prenatal diagnosis of a congenital heart defect in the fetus. Nine respondents were interviewed in five interviews, four with the aid of a professional interpreter. The material was analyzed using manifest qualitative content analysis.ResultsThe analysis resulted in five categories: 1) “Trustworthy information”, 2) “Language barriers”, 3) “Psychosocial situation”, 4) “Peer support”, and 5) “Religious positions”.ConclusionThe potential need for interpreter services, visual information, psychosocial support, coordination with welfare officers, and respect for religious positions about termination of pregnancy are all important aspects for health professionals to consider when consulting immigrants faced with a prenatal diagnosis of fetal anomaly in the fetus. Peer support within this context needs to be further explored in future studies.