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Journal of AAPOS : the Official... Apr 2023A 5-month-old girl presented with bilateral upper and lower eyelid cicatricial ectropion with right eye exposure keratopathy and bilateral lateral canthal defects....
A 5-month-old girl presented with bilateral upper and lower eyelid cicatricial ectropion with right eye exposure keratopathy and bilateral lateral canthal defects. Physical examination revealed a constriction band over the temporal area of the head and nasal bridge; she was diagnosed with congenital amniotic band syndrome (ABS). Upper and lower eyelid reconstruction procedures were performed along with lateral canthal reconstruction to salvage the remaining left eye. Congenital ABS is a rare disorder. Most cases of ocular ABS are associated with limb deformities due to constriction defects and blood flow restrictions. Our patient presented solely with ocular and periocular deformities.
Topics: Infant, Newborn; Female; Humans; Infant; Amniotic Band Syndrome; Ectropion; Eyelids; Keratoconjunctivitis; Physical Examination
PubMed: 36871930
DOI: 10.1016/j.jaapos.2023.02.001 -
Clinical Laboratory Feb 2023To investigate the value of prenatal diagnosis in fetal ultrasound abnormalities.
BACKGROUND
To investigate the value of prenatal diagnosis in fetal ultrasound abnormalities.
METHODS
Amniotic fluid samples of pregnant women who underwent invasive amniocentesis for ultrasound examination suggestive of fetal ultrasound structural abnormalities and soft markers of abnormalities during pregnancy from January 2016 to June 2021 at the Prenatal Diagnostic Center of Putian College Hospital were collected for amniotic fluid cell culture and G manifest band karyotype analysis.
RESULTS
(1) Most pregnant women with ultrasound abnormalities were delivered at the age of 23 to 32 years. (2) There were 66 cases of abnormal karyotype with an abnormal incidence of 9.64% (66/685), with chromosomal number abnormalities predominating. (3) Fetal ultrasound abnormalities are mainly soft markers of abnormalities. (4) The comparison of ultrasound abnormalities in the low and high maternal-fetal age groups was not statis-tically significant.
CONCLUSIONS
(1) Fetal ultrasound abnormalities are mainly soft markers of abnormalities. (2) The rate of fetal chromosomal abnormalities was the highest among the soft ultrasound indicators with NT thickening. (3) The incidence of fetal ultrasound abnormalities did not increase with increasing age. There was no statistical difference in the incidence of chromosomal abnormalities between the low age group and the high age group. (4) Fetal ultrasound testing provides a scientific and accurate basis for clinical heritage counseling and rebirth counseling, especially for chromosomal aneuploidy number abnormalities.
Topics: Pregnancy; Female; Humans; Young Adult; Adult; Prenatal Diagnosis; Chromosome Aberrations; Amniocentesis; Maternal Age; Aneuploidy
PubMed: 36787572
DOI: 10.7754/Clin.Lab.2022.220520 -
Journal of Minimally Invasive Gynecology May 2023To demonstrate the surgical techniques for improving safety in robotic-assisted abdominal cerclage via broad ligament window dissection.
STUDY OBJECTIVE
To demonstrate the surgical techniques for improving safety in robotic-assisted abdominal cerclage via broad ligament window dissection.
DESIGN
Stepwise demonstration with narrated video footage.
SETTING
An academic tertiary care hospital. Our patient is a 32-year-old G8P2143, with a history of pregnancy loss at 19 and 23 weeks and 1 failed vaginal cerclage, presented to us at 13 weeks and 5 days for abdominal cerclage. We have completed a total of 5 successful procedures with this technique on pregnant patients ranging from 9 to 14 weeks.
INTERVENTIONS
Abdominal cerclage during pregnancy can be very risky and challenging to perform; however, it offers an increased success rate for continuing pregnancy [1]. Excessive bleeding and the rupture of membrane during the procedure could lead to pregnancy loss and a failed abdominal cerclage [2,3]. Therefore, seeking a feasible and safer technique would be preferable for the surgeons to decrease surgical risk and complications. We have developed a trans-broad ligament technique that would allow for the bilateral uterine vessels to be clearly exposed, thereby reducing the possibility of accidental damage to a major vessel and eliminating the risk of blind needle placement piercing through the amniotic sac resulting in rupture of membrane and subsequent pregnancy loss [4,5]. A dense adhesion band from the anterior uterus to the anterior abdominal wall was carefully taken down using the monopolar scissors. The assistant gently performed a digital vaginal examination to assist with the creation of a bladder flap. The bladder was carefully dissected off the lower uterine segment and uterus using the monopolar scissors. Bilateral uterine vessels were further skeletonized and exposed anteriorly using blunt dissection and the monopolar scissors. On the right, a window was created in the broad ligament using the monopolar scissors. The right uterine vessels were then further dissected and lateralized, creating a small window medial to the uterine vessels at the level of the internal cervical os. The mersilene tape was guided through the window from anterior to posterior. In a similar fashion, a window was created on the left; the mersilene tape was then guided from posterior to anterior. The mersilene tape was completely placed around the cervix circumferentially at the level of the internal cervical os, medial to the uterine vessels. Both ends of the mersilene tape were then pulled gently, while ensuring that the tape was lying flat on the anterior of the uterus. The tape was then tied anteriorly at the 12 o'clock position in an appropriate tension. A 2-0 silk was then sutured to the tails of the tape to ensure that it would remain in the correct location and prevent the loosening of the knot of mersilene tape. The pelvis was copiously irrigated, and hemostasis was assured. The fetal heart rate was 126 bpm, and patient was discharge next day. A healthy baby, 6 pounds 14 ounces, was delivered by cesarean section at 36 weeks 5 days because of early contractions and pain (Supplemental Appendix 1-4).
CONCLUSION
Robotic-assisted abdominal cerclage via broad ligament window dissection offers a possibly feasible and safe technique for surgeons seeking to reduce risks, although further research is needed.
Topics: Humans; Pregnancy; Female; Adult; Laparoscopy; Broad Ligament; Cerclage, Cervical; Robotic Surgical Procedures; Cesarean Section
PubMed: 36764647
DOI: 10.1016/j.jmig.2023.02.004 -
Journal of Clinical Ultrasound : JCU Jan 2023Antenatal 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)
Observational Study
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.
RESULTS
16/54 cases were isolated radial ray anomalies. There were five cases of amniotic band syndrome, five limb body wall complex cases, three VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities) associations, one case of sirenomelia, two cases of limb pelvis hypoplasia, and one case of OEIS (Omphalocele Exstrophy Imperforate anus and spinal defects). Four fetuses with non-isolated radial ray anomaly had trisomy 18. One case with bilateral radial ray defect had a mutation in the FANC-E gene confirming fanconi anemia. Twelve cases were unclassified.
CONCLUSION
Autopsy is the most important investigation in fetuses with limb anomalies. We suggest chromosomal microarray (CMA) as a first-tier test after autopsy. However, in cases of bilaterally symmetrical limb anomalies, in case of previous similarly affected child, or history of consanguinity, whole exome sequencing (WES) can be offered as the primary investigation, followed by CMA if WES is normal.
Topics: Female; Humans; Pregnancy; Fetus; Heart Defects, Congenital; Kidney; Limb Deformities, Congenital; Trachea; Tracheoesophageal Fistula; Prenatal Diagnosis
PubMed: 36639848
DOI: 10.1002/jcu.23273 -
American Journal of Medical Genetics.... Apr 2023Amniotic band syndrome (ABS) and limb body wall complex (LBWC) have an overlapping phenotype of multiple congenital anomalies and their etiology is unknown. We aimed to...
Amniotic band syndrome (ABS) and limb body wall complex (LBWC) have an overlapping phenotype of multiple congenital anomalies and their etiology is unknown. We aimed to determine the prevalence of ABS and LBWC in Europe from 1980 to 2019 and to describe the spectrum of congenital anomalies. In addition, we investigated maternal age and multiple birth as possible risk factors for the occurrence of ABS and LBWC. We used data from the European surveillance of congenital anomalies (EUROCAT) network including data from 30 registries over 1980-2019. We included all pregnancy outcomes, including live births, stillbirths, and terminations of pregnancy for fetal anomalies. ABS and LBWC cases were extracted from the central EUROCAT database using coding information responses from the registries. In total, 866 ABS cases and 451 LBWC cases were included in this study. The mean prevalence was 0.53/10,000 births for ABS and 0.34/10,000 births for LBWC during the 40 years. Prevalence of both ABS and LBWC was lower in the 1980s and higher in the United Kingdom. Limb anomalies and neural tube defects were commonly seen in ABS, whereas in LBWC abdominal and thoracic wall defects and limb anomalies were most prevalent. Twinning was confirmed as a risk factor for both ABS and LBWC. This study includes the largest cohort of ABS and LBWC cases ever reported over a large time period using standardized EUROCAT data. Prevalence, clinical characteristics, and the phenotypic spectrum are described, and twinning is confirmed as a risk factor.
Topics: Pregnancy; Humans; Female; Infant, Newborn; Amniotic Band Syndrome; Abnormalities, Multiple; Europe; Maternal Age; Stillbirth; Registries; Prevalence
PubMed: 36584346
DOI: 10.1002/ajmg.a.63107 -
Genes Dec 2022In 2018, a new clinical subtype, caused by biallelic variants in the gene, encoding the ACLP protein, was added to the current nosological classification of the...
In 2018, a new clinical subtype, caused by biallelic variants in the gene, encoding the ACLP protein, was added to the current nosological classification of the Ehlers-Danlos Syndromes (EDS). This new phenotype, provisionally termed EDS classical-like type 2 (clEDS2), has not yet been fully characterized, as only nine cases have been reported to date. Here we describe a patient, homozygous for a novel pathogenic variant (NM_001129.5 c.2123_2124delTG (p.Val708AlafsTer5)), whose phenotype is reminiscent of classical EDS but also includes previously unreported multiple congenital malformations. Furthermore, we briefly summarize the current principal clinical manifestations of clEDS2 and the molecular evidence surrounding the role of in the context of extracellular matrix homeostasis and connective tissue development. Although a different coexisting etiology for the multiple congenital malformations of our patient cannot be formally excluded, the emerging role of ACLP in TGF-β and WNT pathways may explain their occurrence and the phenotypical variability of clEDS2.
Topics: Humans; Mutation; Ehlers-Danlos Syndrome; Extracellular Matrix; Phenotype; Homozygote; Carboxypeptidases; Repressor Proteins
PubMed: 36553625
DOI: 10.3390/genes13122358 -
Cureus Nov 2022Amniotic constriction band (ACB) is an uncommon clinical concept with different presentations specific to each patient with clinical symptoms may include ring...
Amniotic constriction band (ACB) is an uncommon clinical concept with different presentations specific to each patient with clinical symptoms may include ring constrictions, digital defects, natural limb amputations, and visceral defects. The etiology of this defect is not fully understood. We present a full-term newborn boy who was born by vaginal delivery to a healthy mother. At birth, amniotic bands encircled and constricted his upper and lower limbs. At two and six months of gestation, the mother gave a unique obstetric history of recurrent exposure to her infected daughter, which was diagnosed later as a case of atypical . This raises suspicion that may play a critical role in the pathogenesis of ACB and the hypothesis related to its origin. The inquiry in our case is whether might have been a non-aberrant teratogen and caused subclinical chorioamnionitis that leads to early rupture of amniotic membranes and result in the proposed defects. As far as we know, this is the first case reported in the literature that combines gestational exposure to and postpartum isolated amniotic constrictions and minor digital defects in Saudi Arabia newborns. In addition, we discussed the possible underlying causes and reviewed the published literature on this defect.
PubMed: 36523735
DOI: 10.7759/cureus.31410 -
The Pan African Medical Journal 2022Encephalocele is a malformation due to a defect in the closure of the neural tube causing herniation of brain tissue and/or meninges through this congenital skull...
[Occipital encephalocele and associated anomalies including bilateral eyelid coloboma, bilateral cleft lip/cleft palate, amniotic bands on the right leg with absence of toes on right and left feet at the University Clinics of Graben Butembo 2021: a case report].
Encephalocele is a malformation due to a defect in the closure of the neural tube causing herniation of brain tissue and/or meninges through this congenital skull defect. The size of encephalocele varies from a few centimeters to a huge mass called "giant encephalocele". Content usually consists of degenerative neural tissue, meninges and a cystic part. We here report the case of a 4-month-old infant, born of non-consanguineous parents, who was referred with congenital occipital mass. Upon arrival at our clinic, clinical examination revealed a weight of 3500g, a head circumference of 33 cm, with a non-bulging anterior fontanelle. She presented with a huge renitent occipital mass measuring 43X25cm, with a height of 15cm was found. absence of both eyelids, bilateral lip and palate fissures; a constriction ring on the right leg, absence of toes on the right and left feet. A diagnosis of an amniotic band syndrome was made, with as components: occipital encephalocele associated with a bilateral palpebral coloboma, a bilateral cleft lip and palate, and amniotic bands on the right leg, and amputation of the toes of the right and left feet.
Topics: Infant; Infant, Newborn; Female; Humans; Cleft Lip; Cleft Palate; Amniotic Band Syndrome; Encephalocele; Coloboma; Leg; Universities; Eyelids; Toes
PubMed: 36338557
DOI: 10.11604/pamj.2022.42.251.33736 -
Spectrochimica Acta. Part A, Molecular... Feb 2023Studies with the use of FTIR and FTR methods to find spectroscopic biomarkers within the 1740 cm band of pathological tissues found that oxidative stress, including... (Review)
Review
Studies with the use of FTIR and FTR methods to find spectroscopic biomarkers within the 1740 cm band of pathological tissues found that oxidative stress, including damage to epidermis and structural changes in pathological amnion and placenta tissue, are associated with the occurrence of products of lipid peroxidation and have impact on fluidity and transport function of membranes. In particular, the findings show that the absence of a marker lipid band of approx. 1743 cm and the occurrence of a minimum of 1764 cm (FTIR) and 1734 cm (FTR) testify to the integrity and absence of damage in the allogeneic dermis, while the presence the 1743 or 1747 cm bands indicates denaturation of the thermally or electrically burned epidermis. The absence of a marker lipid band of approx. 1736-1740 cm for a healthy placental and amniotic tissue and the presence of a band of 1740 cm indicate placental gestosis, while the presence of a band of 1742 cm indicates hypotrophy. The 1738 cm bands indicate amniotic macrosomia. Structural changes caused by tissue modification with antioxidants, which were observed on individual samples: the L-ascorbic acid (presence of a lipid band marker at a frequency of 1755 cm), sodium ascorbate (disappearance of the marker band), orthosilicic acid (disappearance or decrease in the intensity of the marker band with a decrease in the concentration of the modifier), as well as graphene oxide (separation of the marker lipid band of 1755 cm), inform us about the effect of modifiers on the tissue repair process. The studies also tracked spectral changes identified in serum. Withing the range of the lipid band and the amide I and II bands (α → β conversion), there are clear differences between normal and pathological serum lyophilisates and a sample analyzed from the solution.
Topics: Pregnancy; Female; Humans; Spectroscopy, Fourier Transform Infrared; Placenta; Ascorbic Acid; Oxidative Stress; Biomarkers; Lipids
PubMed: 36257216
DOI: 10.1016/j.saa.2022.121926