esophageal atresia in pregnancy

VACTERL association is typically defined as the presence of three components among these birth defects: vertebral anomalies, anal atresia, cardiac anomalies, esophageal atresia/tracheoesophageal fistula (EA/TEF), renal anomalies, and limb defects. There is increasing recognition that VACTERL and other recurrent constellations of embryonic development often overlap clinically and might share pathogenesis. We conducted a comprehensive chart review of a large patient population with VACTERL association from two tertiary care centers in California...

PURPOSE: Antenatal detection of limb anomalies is not uncommon, and pregnancies are usually terminated in view of the expected physical handicap. The aim of this retrospective observational study is to delineate the spectrum of fetal limb anomalies and provide evidence in support of complete postnatal evaluation in establishing recurrence risk. METHODS: We present 54 cases of limb malformations detected antenatally and discuss the spectrum of abnormalities, the utility of fetal autopsy, and genetic testing to establish recurrence risk in subsequent pregnancies...

OBJECTIVE: To characterize gastrointestinal bubbles detected since early pregnancy and to describe corresponding diagnoses. METHOD: A retrospective cohort review of all cases in which gastrointestinal bubbles were detected starting in early prenatal transvaginal scans at 14-17 weeks of gestation between the years 2007 and 2021. Sonographic features and data regarding associated anomalies, genetic abnormalities, and pregnancy outcome were evaluated. RESULTS: Bubbles were detected in 23 of 27 073 early scans and a total of 31 394 scans...

IMPORTANCE: Psychiatric disorders are common among female individuals of reproductive age. While antipsychotic medication use is increasing, the safety of such medications in pregnancy is an area with large evidence gaps. OBJECTIVE: To evaluate the risk of first-trimester antipsychotic exposure with respect to congenital malformations, focusing on individual drugs and specific malformation subtypes. DESIGN, SETTING, AND PARTICIPANTS: This cohort study used data from nationwide health registers from the 5 Nordic countries and the US and spanned 1996 to 2018...

Objectives: Birth defects (BDs) are a major contributor to perinatal and infant mortality, morbidity and lifelong disability worldwide. A hospital-based study on birth defects was designed in Guilin city in the Guangxi province of Southwestern China aiming to determine the prevalence of BDs in the studied region, and the classify the BDs based on clinical presentation and causation. Methods: The study involved BDs among all pregnancy outcomes (live births, stillbirths, death within 7 days, and pregnancy terminations) born in the 42 registered hospitals of Guilin between 2018 and 2020...

Introduction: Otocephaly is a rare malformation characterized by agnathia (absence of the mandible), melotia (medially displaced ear pinna), aglossia (absence of the tongue) and microstomia (small oral aperture). This results due to failure of migration of the neural crest cells and is a defect of the first branchial arch. It is incompatible with life and early prenatal diagnosis is useful. Case Report: Our patient a primigravida with 19 weeks 6 days gestation was referred for micrognathia and polyhydramnios...

Fetal gastrointestinal tract obstruction (GITO) is the most frequently encountered gastrointestinal defect in the prenatal period. This study aimed to investigate the genetic disorders and pregnancy outcomes of fetal GITO. We reviewed data from 70 pregnancies that were referred for invasive prenatal testing because of fetal GITO. According to the level of obstruction, they were classified into esophageal atresia/stenosis, duodenal atresia/stenosis, jejunal or ileal atresia/stenosis, or anal atresia. Traditional karyotyping was performed on all the 70 pregnancies, and chromosomal microarray analysis (CMA) was performed on 32 of them in parallel...

BACKGROUND: Endoscopic vacuum therapy (EVT) has become a standard treatment method for esophageal perforations in adults. However, experience with EVT in infants is scarce. In this retrospective case series, we report on four very young infants who were successfully treated with EVT for esophageal perforations of different etiology. METHODS: Four infants were diagnosed with esophageal perforations on day 7, 32, 35 and 159 of life, respectively. The youngest one was prematurely born in the 31st week of pregnancy weighing 980 g only...

OBJECTIVES: To explore associations between maternal pre-pregnancy exposure to arsenic in diet and non-cardiac birth defects. DESIGN: This is a population-based, case-control study using maternal responses to a dietary assessment and published arsenic concentration estimates in food items to calculate average daily total and inorganic arsenic exposure during the year before pregnancy. Assigning tertiles of total and inorganic arsenic exposure, logistic regression analysis was used to estimate OR for middle and high tertiles, compared to the low tertile...

OBJECTIVE: To know the cardiac malformations frequency associated with esophageal atresia and its type in patients of the Children's Specialties Hospital of Chihuahua as well as related sociodemographic characteristics. METHOD: The epidemiology, clinic and evolution of patients with esophageal atresia diagnosis who were admitted to this hospital for a period of two years were studied. Variables such as sex, gestational age, birth weight, Apgar score, atresia type, associated congenital malformations, hospital complications and parental related aspects were analyzed...

Delayed presentation of oesophageal atresia (OA) with a tracheo-oesophageal fistula (TOF) is rare. Only a few case reports and two larger case series have been published. We present a neonate who was referred to our unit on day 14 of life with a missed OA and a TOF, having survived without any feeds or total parenteral nutrition up until referral.We concluded that although such a delayed presentation is rare and avoidable, it does occur. This case highlights the necessity of good feedback to the referral hospitals with education on how to prevent this from recurring again...

In contrast to other non-steroidal anti-inflammatory drugs (NSAIDs), naproxen use during pregnancy is not well studied. The objective of this analysis was to assess negative effects on pregnancy outcomes following naproxen exposure in the first trimester of pregnancy. Out of 121 exposed pregnancies prospectively recorded by two German teratology information services (TIS) 15 ended as spontaneous abortion and ten were electively terminated; in one case for prenatal diagnosis of anencephaly. Four pregnancies were stillborn, in these cases naproxen was discontinued more than two months before the event...

The etiology of pediatric abdominal disorders is poorly understood, and the relationship with maternal mental health is understudied. We sought to determine the association between maternal psychiatric disorders and abdominal conditions in childhood. We performed a retrospective cohort study of 1,080,518 newborns in Quebec, Canada, between 2006 and 2020. We identified maternal mental disorders before or during pregnancy and computed the incidence of abdominal disorders in offspring before 1 year of age. Outcomes included Hirschsprung disease; hypertrophic pyloric stenosis; and esophageal, intestinal, and biliary atresia...

OBJECTIVE: We reported a fetus that presenting with persistent left superior vena cava (PLSVC), polyhydramnios, and a small gastric bubble during prenatal examination and identified VACTERL association after birth. CASE REPORT: A 34-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age and the result was normal. Subsequently, an ultrasound revealed single umbilical artery (SUA) at 21 weeks of gestation. She received a detailed fetal anatomy survey that presented the same findings and PLSVC...

OBJECTIVE: To describe the sonographic appearance of the fetal esophagus during early pregnancy and evaluate the feasibility of imaging the entire esophageal length. In addition, we present a case of disrupted esophageal continuity, subsequently diagnosed with esophageal atresia (EA). METHODS: A prospective observational study of 145 patients. During the early second trimester anomaly scan performed at 12-17 weeks' gestation the entire esophagus was captured in a single sonographic image at the midsagittal plane (one shot technique)...

OBJECTIVE: We investigated prenatal sonographic characteristics of esophageal atresia (EA) with advancing gestation. We focused on the degree of polyhydramnios and the stomach shape. METHODS: This study included 27 EA cases (EA group) and 81 idiopathic polyhydramnios cases (non-EA group). The non-EA group consisted of cases without any fetal structural anomaly, musculoskeletal disorder, chromosomal abnormality, or maternal diabetes. Both groups included only singleton pregnancies...

OBJECTIVES: To reveal a first-trimester sonographic marker associated with combined duodenal and esophageal atresia (DA and EA). METHODS: This retrospective study included four patients referred to our department in the first trimester due to fetal stomach anomaly. In the literature we found 20 additional cases of combined DA and EA with four of them to be revealed at 12 weeks. RESULTS: We present the largest for to date case series of combined DA and pure EA diagnosed in the first trimester including one with additional visualization of the distal esophageal pouch and its communication with the stomach...

INTRODUCTION: We aimed to assess the diagnostic yield of ultrasonography in the identification of the etiology of hydramnios, and the added value of MRI or amniocentesis. METHODS: We conducted a single-center retrospective study including pregnancies with confirmed hydramnios (defined as deepest pocket ≥8 cm) between January 2013 and May 2017. Twin pregnancies, secondary hydramnios discovered after the diagnosis of a causal pathology, and pregnancies of unknown outcome were excluded...

BACKGROUND Methimazole embryopathy is caused by maternal methimazole intake during early pregnancy. It causes fetal malformations such as choanal atresia, esophageal atresia, aplasia cutis, omphalomesenteric duct remnants, urachal remnants, and omphalocele. Gallbladder agenesis is sometimes complicated with other malformations, but there have been no reports of gallbladder agenesis due to methimazole or concomitant methimazole embryopathy with gallbladder agenesis. CASE REPORT The mother of a male neonate had taken methimazole for hyperthyroidism until pregnancy was recognized at 7 weeks of gestation...

BACKGROUND: To evaluate the incidence of laryngeal ultrasound (US) abnormalities in fetuses with congenital diaphragmatic hernia (CDH) and to assess the utility of fetal laryngoesophagoscopy for prenatal diagnosis of laryngo-tracheo-esophageal anomalies. STUDY DESIGN: A cohort of CDH fetuses with laryngeal ultrasound abnormalities were selected for diagnostic fetal laringoesophagoscopy in a single fetal surgery center at Queretaro, Mexico. RESULTS: During the study period, 210 CDH fetuses were evaluated...