Maternal Mental Health Following Ultrasonographic Detection of Fetal Structural Anomaly in the Midst of the COVID-19 Pandemic

Prenatal ultrasonographic detection of fetal structural anomaly may adversely affect maternal mental health throughout pregnancy, particularly in the current COVID-19 pandemic. This study aims to prospectively assess maternal stress, anxiety, and depression following ultrasonographic detection of fetal structural anomaly from diagnosis until delivery during the COVID-19 pandemic. A total of 141 pregnant women at a tertiary hospital who underwent detailed scans between 16 and 24 gestational weeks were included and categorized into the study (anomaly finding, n = 65) and comparison (normal finding, n = 76) groups. Self-administered questionnaires of 10-item Perceived Stress Scale (PSS-10) and Hospital Anxiety and Depression Scale (HADS) were used to assess maternal stress, anxiety, and depression at prior detection (T1), two-to-four weeks post-detection (T2), one-to-two weeks prior to delivery (T3), and one-to-two weeks post-delivery (T4). Repeated measures of analysis of variance (ANOVA) were conducted to assess time-, between-group, and time–group interaction effect. In general, maternal stress improved, but anxiety worsened, while depression persisted, over the time from T1 to T4. The average maternal stress and anxiety levels were significantly higher among groups with fetal anomaly. The maternal stress and anxiety level were significantly affected within one-to-two weeks post-detection of fetal structural anomaly. In conclusion, maternal mental health parameters were affected differently during the COVID-19 pandemic, with higher vulnerability of stress and anxiety among pregnant women with fetal structural anomaly particularly within one-to-two weeks post-detection.

Postpartum Depression Risk following Prenatal Diagnosis of Major Fetal Structural Anomalies

Objectives Our primary objective was to evaluate how prenatal diagnosis of a major fetal structural anomaly and resulting pregnancy outcome affected postpartum depression risk, as assessed by the Edinburgh Postnatal Depression Scale (EPDS). Secondary objectives were to review the rate of mental health follow-up and subsequent diagnosis of postpartum depression in screen-positive women. Study Design Singleton pregnancies with prenatal diagnosis of one or more major fetal structural anomalies were ascertained from prospectively maintained databases that included perinatal outcomes and subsequent EPDS responses from January 2010 to May 2018. EPDS scores of 13 or higher were considered positive and prompted referral for mental health follow-up, which was verified by medical record review. Statistical analyses were performed using Student's t-test, χ2, and odds ratios (ORs) with p < 0.05 considered significant. Results A total of 1,306 women had a prenatal diagnosis of one or more major fetal structural anomalies, 896 (68%) also had a postpartum EPDS screening, and 82 (9.2%) screened positive. Positive EPDS screening was more common with anomalies of multiple organ systems (16.5 vs 7.8%, p = 0.002) and aneuploidy (17.1 vs 9.3%, p = 0.02). Pregnancies complicated by fetal death, neonatal death, and termination for anomaly were significantly more likely to screen positive than those with neonatal survival to discharge (OR, 3.1 [95% confidence interval [CI], 1.6–6.2], 3.0 [95% CI, 1.5–5.8], and 4.4 [95% CI, 2.1–8.9], respectively, p ≤ 0.002). Of the 35 (43%) screen-positive women who attended follow-up appointments with mental health providers, 18 (51%) were diagnosed with a depressive disorder, accounting overall for 22% of those with a positive EPDS screen. Conclusion Among women with a prenatal diagnosis of a major fetal structural anomaly, those experiencing a perinatal loss or pregnancy termination have an increased risk of positive EPDS screen result compared with who have a neonate surviving to discharge. A depressive disorder was diagnosed postpartum in 22% of these women with a positive EPDS screen. Our findings highlight the mental health needs in this vulnerable population. Key Points

Analysis of Whole Genome Sequencing in a Cohort of Individuals with PHACE Syndrome Suggests Dysregulation of RAS/PI3K Signaling

The acronym PHACE stands for the co-occurrence of posterior brain fossa malformations, hemangiomas, arterial anomalies, cardiac defects, and eye abnormalities. The majority of patients have a segmental hemangioma and at least one developmental structural anomaly. The etiology and pathogenesis are unknown. Here we discuss the candidate causative genes identified in a de novo analysis of whole genome sequencing of germline samples from 98 unrelated trios in which the probands had PHACE, all sequenced as part of the Gabriella Miller Kids First Pediatric Research Program. A g:Profiler pathway analysis of the genes with rare, de novo variants suggested dysregulation of the RAS/MAPK and PI3K/AKT pathways that regulate cell growth, migration, and angiogenesis. These findings, along with the developmental anomalies and the vascular birthmark, support including PHACE within the RASopathy family of syndromes.

Association of maternal food insecurity before and during pregnancy with fetal structural anomalies: A multicenter case-control study protocol

Background: Food insecurity, an issue also affecting developed countries, is associated with different negative outcomes. Particularly in pregnant women, a vulnerable population group, it has a double burden, as it affects both the woman and her child. Food insecurity has been associated with low birth weight and shorter gestational age, but there is less evidence on the association with fetal structural anomalies. Aim: To fill this gap, a study will be conducted to examine if pregnant women in a condition of food insecurity have a higher risk for fetal structural anomalies. Methods: A case-control study will be conducted in three centers. Cases will be pregnant women (>18 years old) diagnosed with a fetal structural anomaly during the prenatal ultrasound examination of the II–III trimester, while controls will be pregnant women (>18 years old) with a negative result for fetal structural anomaly at the II–III trimester prenatal ultrasound examination. The exposure of interest will be food insecurity during the last 12 months, measured using the validated Household Food Insecurity Access Scale. A dedicated questionnaire will be given to women after they sign the informed consent form. Summary: Finding a positive association between food insecurity in pregnant women and fetal structural anomalies could be the first step towards screening for it among pregnant women and designing policies that could mitigate this condition. Lowering food insecurity could prevent a certain number of fetal structural anomalies, leading to fewer negative pregnancy outcomes and health problems during childhood and adulthood.

The assessment of early and late gestational termination cases

Objective We aimed to investigate the characteristics of early and late gestational termination cases by evaluating the cases underwent gestational termination in our clinic. Methods All pregnant women who had singleton pregnancy and underwent gestational termination due to fetal indications between January 2017 and December 2019 were included in the study. Results A total of 341 cases, of which 263 were with early gestational termination (Group 1) and 73 were with late gestational termination (Group 2) were included in the study. No difference was observed between the demographic characteristics of the groups. The ultrasonographic structural anomaly was observed in 273 (80.1%) of 341 cases and no structural anomaly was observed in 68 (19.9%) cases. Of the cases with structural anomaly, 200 (73%) had isolated system anomaly and 73 (26.7%) had multiple system anomaly. Karyotype analysis was performed in 68% of the cases, and chromosomal anomaly was found in 52.6% of them. Among the cases with normal karyotype analysis results, 22 cases had single gene disorder, of which mostly had thalassemia. While the incidence of structural anomaly was significantly high in the late termination cases (91% vs. 76.8%), the incidence of isolated cardiovascular anomaly was significantly high in the late termination cases similarly (37.5% vs. 13.8%). The autopsy was performed on 16.7% of the cases after termination and the findings were consistent with the prenatal ultrasonographic results in 86% of the cases, and additional findings were found in 22.4% of the cases in the autopsy. Conclusion When the late gestational terminations performed in our clinic are compared to the early gestational terminations, we believe that conducting ultrasonographic anomaly screening to all pregnant women including echocardiography even at a less rate, and also making screening programs in the early gestational periods such as aneuploidy screening easily accessible for all pregnant women may help to maintain maternal health by decreasing the rates of the cases with late gestational

Severe Polyhydramnios with Consistent Fetal Full Bladder: A Novel Sign of Antenatal Bartter's Disease

Bartter's disease, an inherited renal tubular disorder is due to a defect in ion transport across the ascending limb of the loop of Henle leading to failure of the ability of kidneys to concentrate urine and hence polyuria. We present three fetuses of mothers with severe polyhydramnios with normal maternal blood sugar profile, routine Toxoplasma, Rubella, Cytomegalovirus, Herpes (TORCH) serology. The ultrasound showed no structural anomaly in the fetus, but consistent overdistended bladder with severe polyhydramnios was observed without any evidence of obstructive uropathy. The biochemical test on amniotic fluid was suggestive of Bartter's disease in case 1 and borderline in case 2, and next-generation sequencing confirmed a mutation of KCNJ1 associated with Bartter's disease Type II in case 1 and a mutation in SLC21A1 in case 2. Amniotic fluid biochemistry was inconclusive in case 3. A consistent full bladder with severe polyhydramnios with onset around 24 to 25 weeks was a novel finding which was observed due to fetal polyuria and can be used as a clue to investigate cases with severe polyhydramnios with no structural anomaly. Antenatal diagnosis will help in the proper management of child and genetic counseling for the next pregnancy.