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Taiwanese Journal of Obstetrics &... May 2024
Incidental detection of a de novo 16p13.3 microdeletion encompassing PKD1 and a familial Yq11.223 microdeletion encompassing DAZ1 in a fetus with encephalocele on prenatal ultrasound and amniotic band syndrome.
Topics: Humans; Female; Pregnancy; Ultrasonography, Prenatal; Encephalocele; Adult; Chromosome Deletion; Chromosomes, Human, Pair 16; Incidental Findings; RNA-Binding Proteins
PubMed: 38802215
DOI: 10.1016/j.tjog.2024.03.013 -
Sao Paulo Medical Journal = Revista... 2024Concerns regarding high open surgery-related maternal morbidity have led to improvements in minimally invasive fetal surgeries.
BACKGROUND
Concerns regarding high open surgery-related maternal morbidity have led to improvements in minimally invasive fetal surgeries.
OBJECTIVE
To analyze the perinatal and maternal outcomes of minimally invasive fetal surgery performed in Rio de Janeiro, Brazil.
DESIGN AND SETTING
Retrospective cohort study conducted in two tertiary reference centers.
METHODS
This retrospective descriptive study was conducted using medical records from 2011 to 2019. The outcomes included maternal and pregnancy complications, neonatal morbidity, and mortality from the intrauterine period to hospital discharge.
RESULTS
Fifty mothers and 70 fetuses were included in this study. The pathologies included twin-twin transfusion syndrome, congenital diaphragmatic hernia, myelomeningocele, lower urinary tract obstruction, pleural effusion, congenital upper airway obstruction syndrome, and amniotic band syndrome. Regarding maternal complications, 8% had anesthetic complications, 12% had infectious complications, and 6% required blood transfusions. The mean gestational age at surgery was 25 weeks, the mean gestational age at delivery was 33 weeks, 83% of fetuses undergoing surgery were born alive, and 69% were discharged from the neonatal intensive care unit.
CONCLUSION
Despite the small sample size, we demonstrated that minimally invasive fetal surgeries are safe for pregnant women. Perinatal mortality and prematurity rates in this study were comparable to those previously. Prematurity remains the most significant problem associated with fetal surgery.
Topics: Humans; Female; Pregnancy; Retrospective Studies; Brazil; Adult; Infant, Newborn; Minimally Invasive Surgical Procedures; Pregnancy Outcome; Fetal Diseases; Pregnancy Complications; Gestational Age; Young Adult; Perinatal Mortality
PubMed: 38896578
DOI: 10.1590/1516-3180.2023.0159.R1.16022024 -
International Journal of Gynaecology... Apr 2024To identify whether conventional methods of estimating fetal growth (Hadlock's formula), which relies heavily on abdominal circumference measurements, are accurate in...
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.
RESULTS
During the study period 41 cases were identified. The median maternal age was 25. The median BMI was 25 and 63% were primiparous women (n = 26). Median gestation at diagnosis was 21 weeks. Median gestation at delivery was 36 weeks. A total of 4.8% of mothers had a history of drug use (n = 2). The rate of maternal tobacco use was 21.9% (n = 9). A total of 4.8% of fetuses had additional congenital anomalies including amniotic band syndrome and myelomeningocele (n = 2). Estimated fetal weight (EFW) and birth weight data were available for 34 cases. A Wilcoxon signed-rank test showed projected EFW using Hadlock's formula did not result in a statistically significant different birth weight (Z = -1.3, P = 0.169). Median projected weight and actual birth weight were 2241.35 and 2415 g respectively. Median difference was 0.64 g (95% CI: -148 to -28.5).
CONCLUSION
Our data showed accuracy using standard formulae for EFW in fetuses with gastroschisis.
PubMed: 38572954
DOI: 10.1002/ijgo.15525 -
Medium- to long-term observations of metacarpal hypoplasia in congenital constriction band syndrome.The Journal of Hand Surgery, European... Sep 2023
Topics: Infant, Newborn; Humans; Metacarpal Bones; Constriction; Amniotic Band Syndrome; Hand Deformities
PubMed: 37125759
DOI: 10.1177/17531934231170081 -
Journal of Plastic, Reconstructive &... Jun 2024A congenital constriction band (CCB) is a relatively common anomaly among limb malformations. However, the number of cases treated at a given center is limited and...
BACKGROUND
A congenital constriction band (CCB) is a relatively common anomaly among limb malformations. However, the number of cases treated at a given center is limited and differences in techniques used by surgeons at each facility have a significant impact on the treatment outcomes. Several surgical methods have been reported, but a standard technique that yields consistent satisfactory results is still needed. Here, we introduce a novel technique for the treatment of CCB syndrome that uses a combination of wave-like skin incision and Z-axis Z-plasty.
PATIENTS AND METHODS
A wave-like incision was used for skin incision with the goals of achieving an accordion effect and a less noticeable post-operative scar. After the fibrous constriction band was completely excised, a Z-plasty of sufficient size in the Z-axis direction was performed on the dermis-inclusive adipose tissue. For over 10 years, this technique was applied to 11 sites in 6 patients. A retrospective study of the characteristics of these cases was performed, including age at surgery, gender, type of deformity, degree of constriction, types of examination, number of surgeries, and post-operative outcomes.
RESULTS
In all patients, a normal contour of the limbs was achieved and the hourglass-like deformity caused by the constriction band was satisfactorily improved. No additional corrective surgeries were needed, there was no abnormal growth of the treated limbs, and scarring was aesthetically acceptable in all cases.
CONCLUSION
The novel technique described here uses deep subcutaneous fat to correct the hourglass-like deformity and restores a normal limb contour, while the wave-like skin incision minimizes post-operative scarring.
Topics: Humans; Female; Male; Retrospective Studies; Infant; Plastic Surgery Procedures; Amniotic Band Syndrome; Infant, Newborn; Treatment Outcome; Cicatrix; Child, Preschool
PubMed: 38691951
DOI: 10.1016/j.bjps.2024.04.029 -
Journal of Community Genetics Jun 2024Congenital anomalies (CA) encompass all morphological or functional alterations originating prenatally and present at birth. The prenatal diagnosis of these anomalies...
Prevalence of congenital anomalies and prenatal diagnosis by birth institution (public vs. non-public): indicators of inequality in access to elective termination of pregnancy for fetal anomalies.
Congenital anomalies (CA) encompass all morphological or functional alterations originating prenatally and present at birth. The prenatal diagnosis of these anomalies can significantly impact the overall health of the pregnant individual and may influence her decision regarding the continuation of the pregnancy. In contexts where safe pregnancy termination is not guaranteed by the state, it can lead to unsafe procedures with severe consequences. In our research, we analyzed epidemiological information on CA to develop potential indicators of inequity in access to safe abortion prior to the legalization of legal termination of pregnancy in Argentina. We included cases from 13 public hospitals and 9 non-public subsector hospitals, from the period 2013-2020. Two groups of specific CA were selected: 1) CA capable of being prenatally diagnosed, and 2) CA related to vascular disruptive events. 10/18 of the selected CA capable of being prenatally diagnosed had a significantly higher prevalence in public hospitals (anencephaly, encephalocele, spina bifida, microcephaly, hydrocephalus, holoprosencephaly, hydranencephaly, diaphragmatic hernia, gastroschisis, bilateral renal agenesis). Non public hospitals had higher prenatal detection. Birth prevalence of CA related with vascular disruptive events (limb reduction, Moebius syndrome, amniotic band sequence) were significantly higher in public hospitals. These results suggest disparities in access to prenatal diagnosis and safe abortion based on socioeconomic status. There was a significant gap in access to prenatal diagnosis for CA and possibly to safe elective abortion depending on the type of institution (public vs. non-public).
PubMed: 38822971
DOI: 10.1007/s12687-024-00714-x -
International Journal of Surgery Case... Feb 2024Amniotic band syndrome is a fetal entrapment in strands of amniotic tissue. This condition causes multiple deformities ranging from simple constricting bands to...
INTRODUCTION
Amniotic band syndrome is a fetal entrapment in strands of amniotic tissue. This condition causes multiple deformities ranging from simple constricting bands to lymphedema, autoamputation, syndactyly and other congenital anomalies. Reconstructive surgery is the main treatment for ABS.
PRESENTATION OF CASE
A 4-year-old male presented with multiple constricting bands affecting both hands in addition to an incomplete syndactyly between the third and fourth left digits. A two-staged operation was performed to repair the deformities with 6 months interval. Series of Z-plasties were used to release the constricting bands and the syndactyly was separated by a web zigzag incision approach and full-thickness skin grafting.
DISCUSSION
Management of ABS must be individualized. The urgency of the surgical release depends on the depth of the constricting bands and their influence on circulation and lymphatic drainage. Superficial bands can be released electively for cosmetic appearance while deep bands should be released as soon as possible. The separation of syndactyly should be done at the first year of life to maintain the digits functionality and parallel growth.
CONCLUSION
This paper emphasizes the importance of early repair of constricting bands associated with syndactyly to avoid the consequences of the delay on digital growth.
PubMed: 38262220
DOI: 10.1016/j.ijscr.2024.109277 -
Birth Defects Research Feb 2024Gastroschisis is a serious birth defect with midgut prolapse into the amniotic cavity. The objectives of this study were to evaluate the prevalence and time trends of...
BACKGROUND
Gastroschisis is a serious birth defect with midgut prolapse into the amniotic cavity. The objectives of this study were to evaluate the prevalence and time trends of gastroschisis among programs in the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), focusing on regional variations and maternal age changes in the population.
METHODS
We analyzed data on births from 1980 to 2017 from 27 ICBDSR member programs, representing 24 countries and three regions (Europe , Latin America, North America). Cases were identified using diagnostic codes (i.e., 756.7, 756.71, or Q79.3). We excluded cases of amniotic band syndrome, limb-body wall defect, and ruptured omphalocele. Programs provided annual counts for gastroschisis cases (live births, stillbirths, and legally permitted pregnancy terminations for fetal anomalies) and source population (live births, stillbirths), by maternal age.
RESULTS
Overall, gastroschisis occurred in 1 of every 3268 births (3.06 per 10,000 births; 95% confidence intervals [CI]: 3.01, 3.11), with marked regional variation. European prevalence was 1.49 (95%CI: 1.44, 1.55), Latin American 3.80 (95%CI: 3.69, 3.92) and North American 4.32 (95%CI: 4.22, 4.42). A statistically significant increasing time trend was observed among six European , four Latin American, and four North American programs. Women <20 years of age had the highest prevalence in all programs except the Slovak Republic.
CONCLUSIONS
Gastroschisis prevalence increased over time in 61% of participating programs, and the highest increase in prevalence was observed among the youngest women. Additional inquiry will help to assess the impact of the changing maternal age proportions in the birth population on gastroschisis prevalence.
Topics: Pregnancy; Infant, Newborn; Female; Humans; Gastroschisis; Prevalence; Stillbirth; Maternal Age; Hernia, Umbilical; Limb Deformities, Congenital
PubMed: 38411327
DOI: 10.1002/bdr2.2306 -
Bioengineering (Basel, Switzerland) Mar 2024A biodegradable hybrid polymer patch was invented at the University of Cincinnati to cover gaps on the skin over the spinal column of a growing fetus, characterized by...
A biodegradable hybrid polymer patch was invented at the University of Cincinnati to cover gaps on the skin over the spinal column of a growing fetus, characterized by the medical condition spina bifida. The inserted patch faces amniotic fluid (AF) on one side and cerebrospinal fluid on the other side. The goal is to provide a profile of the roughness of a patch over time at 0, 4, 8, 12, and 16 weeks with a 95% confidence band. The patch is soaked in a test tube filled with either amniotic fluid (AF) or phosphate-buffered saline (PBS) in the lab. If roughness is measured at any time point for a patch, the patch is destroyed. Thus, it is impossible to measure roughness at all weeks of interest for any patch. It is important to assess the roughness of a patch because the rougher the patch is, the faster the skin grows under the patch. We use a model-based approach with Monte Carlo simulations to estimate the profile over time with a 95% confidence band. The roughness profiles are similar with both liquids. The profile can be used as a template for future experiments on the composition of patches.
PubMed: 38534523
DOI: 10.3390/bioengineering11030249 -
Frontiers in Surgery 2024Terminal osseous overgrowth is a common complication after trans-diaphyseal amputation in children, leading to pain, soft tissue problems, and recurrent surgical...
Terminal osseous overgrowth is a common complication after trans-diaphyseal amputation in children, leading to pain, soft tissue problems, and recurrent surgical procedures. We report three different cases with post-amputation issues of osseous overgrowth, ulceration, and deformity over the amputation site. The first case involves a 9-year-old boy with a right leg congenital amputation secondary to amniotic band syndrome. The right below-knee stump later experienced recurrent episodes of osseous overgrowth, leading to ulceration. After the prominent tibia was resected and capped with the ipsilateral proximal fibula, a positive outcome was achieved with no more recurrent overgrowth over the right leg stump. The second case involves a 9-year-old girl born with an amniotic constriction band over both legs. Her left leg remained functional after a circumferential Z-plasty, but the right leg was a congenital below-knee amputation. Multiple refashioning surgeries were performed on the right leg due to osseous overgrowth but the patient continued to experience recurrent overgrowth causing pain and difficulty fitting into a prosthesis. We performed osteocartilaginous transfer of the proximal part of the ipsilateral fibula to the right tibial end, successfully preventing the overgrowth of the tibia without any complications. The third case involves an 11-year-old boy with a history of meningococcal septicemia who underwent a right below-knee amputation and left ankle disarticulation due to complications of septic emboli. He experienced a prominent right distal tibia stump, which later developed into valgus deformity as a result of the previous insult to the proximal tibial growth plate. We performed a corrective osteotomy over the proximal right tibia and capped the entire tibia with the ipsilateral fibula as an intramedullary splint for the osteotomy site. Post-operatively, we achieved satisfactory deformity correction and successfully halted the recurrent overgrowth over the right tibia stump. The method of ipsilateral fibula capping is safe and effective in managing the osseous overgrowth complications in trans-diaphyseal amputations among children. Therefore, it is a reasonable option during primary below-knee amputations in children compared to multiple refashioning surgeries.
PubMed: 38854925
DOI: 10.3389/fsurg.2024.1320661