OBJECTIVE: When the expectant mother is faced with an unforeseen event during pregnancy, she may experience emotional fragility and depression. This study was carried out to test the association between the time of diagnosis of critical congenital heart disease (CCHD) and depressive symptoms in puerperal women.
METHODS: A case-control study. All mothers answered a semi-structured questionnaire and the Edinburgh Postnatal Depression Scale (EPDS). Pearson\'s correlation and multiple linear regression analysis were used to determine factors associated with depression.
RESULTS: 50 puerperal women, 23 cases and 27 controls. The proportion of puerperal depressive symptoms was 26.1 % among mothers of infants prenatally diagnosed with CCHD and 77.8 % among mothers of infants postnatally diagnosed (p = 0.001 [OR] 9.917; 95 % CI 2.703-36.379). Multiple linear regression analysis showed that the use of psychotropic drugs and time of diagnosis were significantly associated with puerperal depressive symptoms.
CONCLUSIONS: Prenatal diagnosis of CCHD was associated with significantly lower levels of depressive symptoms.

Myhre syndrome is a rare genetic disease caused by recurrent gain-of-function variants in SMAD4 (Ile500Thr, Ile500Val, Arg496Cys, and Ile500Met) characterized by postnatal short stature with pseudo-muscular build, joint stiffness, variable intellectual disability, hearing loss, and a distinctive pattern of dysmorphic facial features. The course can be severe in some cases, with life-threatening cardiac and pulmonary complications caused by connective tissue involvement. These progressive features over time make early clinical diagnosis difficult but possible by astute clinicians who evaluate young children with autism or short stature and unusual appearance. Only two cases of Myhre syndrome diagnosed during the prenatal period have been reported. Here, we present a detailed description of two unrelated fetuses with Myhre syndrome, each molecularly confirmed by genome or exome sequencing, who underwent fetal examination after termination of pregnancy. One had severe intrauterine growth retardation associated with crossed fused renal ectopia, and the other one had pulmonary atresia with ventricular septal defect (a form of tetralogy of Fallot). Both had mild dysmorphic features with a wide nasofrontal angle. Our results and a systematic prenatal literature review add insight into the early natural history of Myhre syndrome and highlight the contribution of prenatal next-generation sequencing in prenatal diagnosis and the importance of fetal autopsy in Myhre syndrome.

Timely identification of fetal conditions enables comprehensive evaluation, counseling, postnatal planning, and prenatal treatments. This study assessed the existing evidence on how social determinants of health (SDOH) influence diagnosis timing of fetal conditions appropriate for care in fetal care centers (FCCs). Eligible studies were conducted in the U.S. and published in English after 1999. We employed the Healthy People 2020 SDOH framework to categorize and analyze data from 16 studies, where 86% focused solely on congenital heart disease (CHD). Studies primarily focused on individual-level SDOH, with only 36% addressing structural-level factors. A total of 31 distinct indicators of SDOH were identified, with 68% being unique to individual studies. Indicators often varied in definition and specificity. Three studies covered all five SDOH categories in the Healthy People 2020 Framework. Studies revealed varying and often conflicting associations with SDOH indicators, with race and ethnicity being the most explored (100%), followed by socioeconomic status (69%), maternal age (57%), residence (43%), and structural factors (29%). Our findings highlight the need for more comprehensive research, including conditions beyond CHD, and the establishment of consensus on indicators of SDOH. Such efforts are necessary to gain a deeper understanding of the underlying factors driving disparities in fetal diagnosis and treatment.

Collaborative multicenter research has significantly increased our understanding of fetal Ebstein anomaly, delineating risk factors for adverse outcomes as well as predictors of postnatal management. These data are incorporated into prenatal care and therapeutic strategies and inform family counseling and delivery planning to optimize care. This report details the translation of findings from multicenter studies into multidisciplinary prenatal care for a fetus with Ebstein anomaly, supraventricular tachycardia, and a circular shunt, including transplacental therapy to control arrhythmias and achieve ductal constriction, informed and coordinated delivery room management, and planned univentricular surgical palliation.

To examine mothers\' internet usage, in conjunction with social, health care, and virtual peer support navigations, when congenital anomalies were diagnosed in utero.
Qualitative descriptive, consisting of semistructured interviews.
Interview data were collected over Zoom; mothers participated from locations of their choosing.
Mothers of neonates discharged postoperatively from NICUs for uterine-diagnosed congenital anomalies. The sample was purposefully recruited from private Facebook groups for parents of children with congenital anomalies.
Analysis was done with deductive coding using concepts from the third iteration of the systems engineering initiative for patient safety theory. The a priori codes were health care, social, journey-benefit, journey-risk, task, and technology.
Twenty-two mothers signed up for an interview; 12 completed an interview, and 10 did not. The majority (n = 8, 66%) were White, had a bachelor\'s or graduate degree (n = 7, 58%) and were between 24 and 33 years of age (n = 8, 66%). Nine themes emerged: (a) Providers cautioned searching for diagnosis information but encouraged private Facebook groups for peer support, (b) Mothers\' inquiries for their own care are lacking, (c) Search for information while recognizing parent-partner\'s coping differences, (d) Pace information from friends and family with patience and appreciation, (e) Manage inquiries from friends and family with group sharing, (f) Private Facebook groups provide a means of receiving and giving peer support, (g) Exposure to difficult stories on Facebook is a risk of stress, (h) Select a NICU, learn about their children\'s diagnoses, participate in virtual peer support, and (i) Device features frame search strategies.
Mothers reflected on the internet as a burden and a source of support in their health care journeys. The ubiquity of internet access calls for mothers to include in their health care journeys the complexities of managing time spent on the internet.

BACKGROUND: Total anomalous pulmonary venous connection (TAPVC) has a low prenatal diagnostic rate. Therefore, we investigated whether Doppler waveforms with a low pulsatility in the pulmonary veins can indicate fetal TAPVC.
METHODS: This retrospective study included 16 fetuses with TAPVC, including 10 with complex congenital heart disease and 104 healthy fetuses that underwent fetal echocardiography. Pulmonary venous S and D wave flow velocities and the valley (representing the lowest velocity between the S and D waves) were measured. Valley indices I and II were then calculated as (velocity of valley/greater of the S and D wave velocities) and (velocity of valley/lesser of the S and D wave velocities), respectively.
RESULTS: Supra/infracardiac TAPVC cases exhibited significantly greater valley indices than that of the healthy group. After adjusting for gestational age at fetal echocardiography, valley indices I (odds ratio [OR] 7.26, p < 0.01) and II (OR: 9.23, p < 0.01) were significant predictors of supra/infracardiac TAPVC. Furthermore, valley indices I and II exhibited a high area under the curve for detecting supra/infracardiac TAPVC, regardless of the presence of pulmonary venous obstruction.
CONCLUSIONS: The valley index may be a useful tool for the detection of fetal TAPVC.

UNASSIGNED: Fetal ultrasound has limitations, especially if the patient is obese or in cases with oligohydramnios. Magnetic resonance imaging (MRI) can then be used as a complement, but only few studies have focused on examinations in the second trimester.
UNASSIGNED: To validate MRI as a complement to diagnose fetal anomalies in the second trimester.
UNASSIGNED: This retrospective study retrieved data from January 2008 to July 2012 from the Fetal Medicine Unit and Department of Radiology at Uppsala University Hospital. Ultrasound and MRI findings were reviewed in 121 fetuses in relation to the final diagnosis, including postpartum follow-up and autopsy results.
UNASSIGNED: Of the 121 fetuses, 51 (42%) had a CNS anomaly and 70 (58%) a non-CNS anomaly diagnosed or suspected. MRI provided additional information in 21% of all cases without changing the management and revealed information that changed the management of the pregnancy in 13%. When a CNS anomaly was detected or suspected, the MRI provided additional information in 22% and changed the management in 10%. The corresponding figures for non-CNS cases were 21% and 16%, respectively. The proportion of cases with additional information that changed the management was especially high in patients with a BMI >30 kg/m2 (25%) and in patients with oligohydramnios (38%). In five cases in category III, false-positive ultrasound findings were identified.
UNASSIGNED: MRI in the second trimester complements ultrasound and improves diagnosis of fetal CNS- and non-CNS anomalies especially when oligohydramnios or maternal obesity is present.

Published data estimate the prevalence of the vascular ring at approximately 7 per 10,000 live births. The association of a double aortic arch with a D-transposition of the great arteries has been rarely described in the literature. In this study, we report the prenatal diagnosis of a 28-year-old woman. A fetal echocardiography at a gestational age of 24 weeks + 6 days showed a D-transposition of the great arteries and a double aortic arch with a ventricular septal defect and pulmonary stenosis. On the first night after birth, the baby experienced an increase in lactate levels, with the rate of oxygen saturation consistently below 80%. A few hours after birth, the patient underwent a Rashkind procedure. An echocardiography, CT chest x-ray, and CT angiogram confirmed a diagnosis with a severe reduction of the tracheal lumen (>85%) and bronchomalacia. Then, the patient underwent posterior tracheopexy and aortopexy and later an arterial switch operation, ventricular septal defect closure, and resection of a part of the infundibular septum, accepting the risk of potential neoaortic obstruction. The literature has reported only two cases of patients with a fetal echocardiogram diagnosis. Therefore, our patient is only the third one with a fetal diagnosis and the second one with a complex intracardiac anatomy, characterized not only by a ventricular septal defect but also by two separate components of the obstruction (a bicuspid valve and a dysplastic valve with a posterior deviation of the infundibular septum). In conclusion, a D-transposition of the great arteries with a double aortic arch remains an extremely unusual association. The clinical outcome of these patients presents a high degree of variability and is entirely unpredictable in prenatal life. Our greatest aim as fetal and perinatal cardiologists is to improve the management and outcome of these patients through a fetal diagnosis, recognizing types of congenital heart disease in newborns who require early neonatal invasive procedures.

BACKGROUND: Congenital dermal sinus (CDS) is an open neural tube defect (NTD) that occurs in 1 in 2,500 births a year and often goes undetected until patients present with complications like infection and neurological deficits. Early diagnosis and repair of CDS may prevent formation of these complications. In utero diagnosis of these lesions may improve long-term outcomes by enabling referral to specialty services and planned postnatal repair; however, only 2 such cases have been reported in the literature. We present a third case of in utero diagnosis of CDS with a description and discussion of findings from surgical exploration and pathology.
METHODS: Routine prenatal ultrasound scan detected a tethered cystic structure arising from the back of the fetus at 20 weeks of gestation. Dedicated fetal ultrasound confirmed the presence of a cystic lesion protruding through a lamina defect, while fetal magnetic resonance imaging showed an intact spinal cord and meninges, suggesting a diagnosis of CDS. Neurosurgery followed along closely and took the child for surgical exploration on day 2 of life. A fibrous stalk with an intradural component and associated cord tethering was excised. Histology showed fibrous tissue without an epithelial-lined lumen.
CONCLUSIONS: CDS is a form of NTD that occurs from nondisjunction of the cutaneous ectoderm and neuroectoderm during formation of the neural tube. Slight differences in how this error occurs can explain variations seen in this spectrum of disease, including CDS without an epithelial-lined lumen as seen in this case. Newborns with CDS can go undiagnosed for years and present with long-term complications. Fetal imaging can assist in early recognition and surgical excision of CDS in newborns.

BACKGROUND: Fetal care centers (FCCs) in the USA lack a standardized instrument to measure person-centered care. This study aimed to develop and validate the Person-Centered Care in Fetal Care Centers (PCC-FCC) Scale.
METHODS: Initial items were developed based on literature and input from clinicians and former patients. A Delphi study involving 16 experts was conducted to validate the content and construct. Through three rounds of online questionnaires using open-ended questions and Likert scales, consensus on item clarity and relevancy was established. The resulting items were then piloted with former fetal care center patients via a web-based survey. The instrument\'s reliability and validity were validated using Cronbach\'s α and exploratory factor analysis, respectively. Concurrent validity was assessed by comparing scores with the Revised Patient Perception of Patient-Centeredness (PPPC-R) Questionnaire.
RESULTS: 258 participants completed the 48-item pilot PCC-FCC survey, categorized into six domains. Factor analysis yielded a 2-factor, 28-item scale. Internal consistency of the final scale had good reliability (α = 0.969). Data supported content, construct, and concurrent validity.
CONCLUSIONS: The PCC-FCC Scale is a reliable and valid measure of person-centered care in U.S. FCCs. It can be used to enhance services and begin connecting person-centered care to maternal-child health outcomes.