fetal anomalies

BACKGROUND: Chromosomal microarray analysis (CMA) has emerged as a critical instrument in prenatal diagnostic procedures, notably in assessing congenital heart diseases (CHD). Nonetheless, current research focuses solely on CHD, overlooking the necessity for thorough comparative investigations encompassing fetuses with varied structural abnormalities or those without apparent structural anomalies. OBJECTIVE: This study sought to assess the relation of single nucleotide polymorphism-based chromosomal microarray analysis (SNP-based CMA) in identifying the underlying causes of fetal cardiac ultrasound abnormalities...

INTRODUCTION AND IMPORTANCE: The incomplete common mesentery, resulting from a rotational anomaly, is a rare but potentially life-threatening condition. This congenital anomaly is characterized by persistent embryonic bowel arrangement and an extremely short mesentery root. Complications typically manifest during neonatal or pediatric stages, with limited occurrences in adulthood. Herein, a compelling case of an 83-year-old male with small bowel volvulus and incomplete common mesentery, underscoring the critical importance of recognizing and addressing rare but potentially life-threatening complications in the geriatric population...

Nationwide abortion restrictions resulting from the Dobbs v. Jackson Women's Health Organization (2022) decision have generated confusion and uncertainty among healthcare professionals, with concerns for liability impacting clinical decision-making and outcomes. The impact on pediatric surgery can be seen in prenatal counseling for fetal anomaly cases, counseling for fetal intervention, and recommendations for pregnant children and adolescents who seek termination. It is essential that all physicians and healthcare team members understand the legal implications on their clinical practices, engage with resources and organizations which can help navigate these circumstances, and consider advocating for patients and themselves...

OBJECTIVES: This study aimed to examine pregnancy and fetal outcomes following paternal exposure to glatiramer acetate (GA). METHODS: Pregnancy reports of paternal GA-exposure at time of conception from 2001 - 2022 were extracted from Teva Global Pharmacovigilance database. Pregnancy reports obtained prior to (prospective) or after (retrospective) knowledge of the pregnancy outcome were included. The primary endpoint was major congenital malformation (MCM) in the offspring according to the US Metropolitan Atlanta Congenital Defects Program (MACDP) and European Surveillance of Congenital Anomalies and Twins (EUROCAT) classification...

Coronary artery anomalies and their potential sequelae are not well studied in association with stillbirth. Herein, we report the autopsy findings in two term stillborn fetuses with coronary artery anomalies. Both fetuses showed identical findings consisting of an abnormal origin of the left coronary artery from the right sinus of Valsalva and an interarterial course of the left coronary artery. Histologic vascular and myocardial changes were also present. These coronary artery findings are associated with sudden death in adults and neonates, and therefore, their potential to be a cause and/or contributor to fetal death is suspected...

BACKGROUND: Because selective termination (ST) for discordant dichorionic twin anomalies carries a risk of pregnancy loss, deferring the procedure until the third trimester can be considered in settings where it is legal. OBJECTIVE: To determine whether perinatal outcomes were more favorable following deferred rather than immediate ST. STUDY DESIGN: A French multicenter retrospective study from 2012 to 2023 on dichorionic twin pregnancies with ST for fetal conditions which were diagnosed before 24 WG...

Background: Copy number variation sequencing (CNV-seq) is a powerful tool to discover structural genomic variation, but limitations associated with its retrospective study design and inadequate diversity of participants can be impractical for clinical application. Aim: This study aims to use CNV-seq to assess chromosomal aberrations in pregnant Vietnamese women. Materials & methods: A large-scale study was conducted on 3776 pregnant Vietnamese women with abnormal ultrasound findings. Results: Chromosomal aberrations were found in 448 (11...

OBJECTIVE: To identify whether conventional methods of estimating fetal growth (Hadlock's formula), which relies heavily on abdominal circumference measurements, are accurate in fetuses with gastroschisis. METHODS: A retrospective cohort study was performed between the period January 1, 2011 and December 31, 2021 in a tertiary referral maternity hospital identifying all pregnancies with a diagnosis of gastroschisis. Projected fetal weight was obtained using the formula (EFW [Hadlock's formula] + 185 g × [X/7]) where X was the number of days to delivery...

To estimate if there is an association between partial AVSD with chromosomal abnormalities, cardiac and extracardiac malformations, and to report the outcomes of prenatally diagnosed AVSD in a large, contemporary cohort. This is a retrospective cohort study of 190 prenatally diagnosed fetal AVSD between 2014 and 2023. Type of AVSD (complete vs partial), additional cardiac findings, extracardiac findings, presence of a heterotaxy, results of prenatal karyotype, and pregnancy outcomes were documented and analyzed...

PURPOSE: To describe ophthalmic findings in an Indigenous paediatric population and the associations between fetal alcohol spectrum disorder (FASD), prenatal alcohol exposure (PAE), and eye anomalies. METHODS: Medical records were reviewed for eye problems, and eye assessments were conducted by an orthoptist or ophthalmologist in the Lililwan Project cohort, which comprised 108 (81%) of all children born between 2002 and 2003, and residing in the remote Fitzroy Valley, Western Australia in 2010...

Teratology, the study of congenital anomalies and their causative factors intersects with developmental and reproductive toxicology, employing innovative methodologies. Evaluating the potential impacts of teratogens on fetal development and assessing human risk is an essential prerequisite in preclinical research. The chicken embryo model has emerged as a powerful tool for understanding human embryonic development due to its remarkable resemblance to humans. This model offers a unique platform for investigating the effects of substances on developing embryos, employing techniques such as ex ovo and in ovo assays, chorioallantoic membrane assays, and embryonic culture techniques...

OBJECTIVE: To determine the incidence and sociodemographic and clinical risk factors associated with birth asphyxia and the immediate neonatal outcomes of birth asphyxia in Nigeria. DESIGN: Secondary analysis of data from the Maternal and Perinatal Database for Quality, Equity and Dignity Programme. SETTING: Fifty-four consenting referral-level hospitals (48 public and six private) across the six geopolitical zones of Nigeria. POPULATION: Women (and their babies) who were admitted for delivery in the facilities between 1 September 2019 and 31 August 2020...

INTRODUCTION: Congenital upper limb amelia is one of the extremely rare conditions. It is defined as a complete absence of upper limbs. It may present as isolated or with other associated anomalies. CASE REPORT: We present a case of a 2-year-old male child with congenital complete absence of bilateral upper limb. This male child was born after four female children. With the advancement in modern-era prenatal diagnostic facilities and a better understanding of fetal-maternal drug pharmacology, such cases are rare entity...

OBJECTIVE: Many fetal anomalies can already be diagnosed by ultrasound in the first trimester of pregnancy. Unfortunately, in clinical practice, detection rates for anomalies in early pregnancy remain low. Our aim was to use an automated image segmentation algorithm to detect one of the most common fetal anomalies: a thickened nuchal translucency (NT), which is a marker for genetic and structural anomalies. METHODS: Standardized mid-sagittal ultrasound images of the fetal head and chest were collected for 560 fetuses between 11 and 13 weeks and 6 days of gestation, 88 (15...

During pregnancy, the maternal environment is critical for normal ontogeny and central nervous system development. Occasionally, prenatal exposure to environmental factors affects tissue architecture and functional development of the brain, which causes developmental disorders, including disorders of the autism spectrum. One of these environmental factors is the exposure to infectious diseases during pregnancy. In this study, we generated mice with infectious disease-induced inflammation by prenatal exposure to 200 μg/kg polyinosinic-polycytidylic acid sodium salt [Poly(I:C)] at embryonic day 12...

PURPOSE: This study aims to explore the correlation between fetal aberrant right subclavian artery (ARSA) and chromosomal disorders, with a specific focus on Down syndrome and DiGeorge syndrome. METHODS: From November 2017 to February 2020, we conducted fetal anomaly screening and assessed the fetal heart in 8494 at our institution. The right subclavian artery tracing was assessed using Doppler ultrasonography following the 3-vessel and tracheal views (3VTV) in the fetal heart scan...

Craniofacial microsomia (CFM) primarily includes specific head and neck anomalies that co-occur more frequently than expected. The anomalies are usually asymmetric and affect craniofacial features; however, there are frequently additional anomalies of variable severity. Published prenatal findings for CFM are limited. This study contributes 11 cases with CFM and their anomalies identified prenatally. Cases born between January 1, 1997 and December 31, 2019 with CFM were abstracted from the Alberta Congenital Anomalies Surveillance System, which is a population-based program ascertaining congenital anomalies for livebirths, stillbirths, and termination of pregnancies for fetal anomalies...

INTRODUCTION: Registries of congenital anomalies (CAs) play a key role in the epidemiological surveillance of CAs. The objective was to estimate the prevalence of CAs and proportions of prenatal diagnosis, terminations of pregnancy for fetal anomaly (TOPFA) and infant mortality in the Paris Registry of Congenital Malformations (remaPAR) over 40 years, from 1981 to 2020. MATERIAL AND METHODS: remaPAR records all births (live births, stillbirths ≥22 weeks of gestation and TOPFA at any gestational age) with CAs detected prenatally until the early neonatal period...

Jeune syndrome, or asphyxiating thoracic dystrophy (JATD), is a rare autosomal recessive skeletal dysplasia with heterogeneous genetic and clinical phenotypes, which primarily affects cartilage and bone development. Herein, we report a patient with a lethal form of SRTD3 without polydactyly (JATD), which led to severe restrictive lung disease and fatal respiratory failure. A full-term boy was born to a 30-year-old mother who was known to have hypothyroidism and was on thyroxine. The parents were first-degree cousins and had one healthy older son...

Persistent sciatic artery (PSA) is an exceptionally rare congenital vascular anomaly with profound clinical implications. This condition occurs when the primitive sciatic artery, responsible for fetal lower limb blood supply, fails to regress during embryonic development. PSA persists into adulthood, representing an intriguing vascular variation that can present as gluteal aneurism and thrombosis. We present the case of a 72-year-old female patient admitted with abdominal pain and blackening of her right foot...