Limb Defects Research Articles

The double muscle gastrocnemius-soleus flap in resurfacing large lower limb defects: Modifications and outcomes

IntroductionLarger soft tissue defects over critical areas of the lower limb involving the knee and proximal two thirds of the tibia present a challenge to the reconstructive surgeon. Options include a large free flap or pedicled local flaps. The gastrocnemius or soleus flap alone is not sufficient. Combined gastrocnemius-soleus flaps can be used adequately without the need to resort to free flaps. We review the use and outcomes of the combined pedicled gastrocnemius and hemi-soleus double muscle flap to cover large defects of the leg and discuss our technique. Material and methodsA retrospective review of the patients who underwent the pedicled double muscle (gastrocnemius and soleus) flap for wound resurfacing in our institution between 2008 and 2013 was performed. The patients’ case notes were analyzed and data collected included their age, comorbidities, wound characteristics, surgical procedures and post-operative outcomes and complications. ResultsThere was a total of ten double flaps in ten patients; eight due to trauma and two due to infection. Mean follow up period was 12 months. All flaps achieved primary healing without major complications. There were two cases of minor complications: flap tip necrosis and superficial infection. Nine patients were able to achieve ambulation without aid at final follow up. ConclusionThe combined pedicled gastrocnemius and hemisoleus double muscle flap is a useful alternative for reconstruction of large critical soft tissue defects around the knee and leg.

Teratogenic Effect of Sodium Phenytoin on Limb Development in Chick Embryos is Time-Mediated as Evident by Stereomicroscope

Background: Women suffering from seizure-related illnesses are prescribed phenytoin during pregnancy if the benefits outweigh the risks. But the teratogenic effect of this drug on limb development needs exploration. This study was designed to investigate the time-mediated teratogenic effect of sodium phenytoin on limb development of chick embryos on days 04 and 09 of development using the stereomicroscope and at the time of hatching. Material and Methods: This randomized control trial comprised of two main groups of fertilized chicken eggs (Egyptian Fayoumi breed), control group A and experimental group B, each having 90 eggs. Each experimental egg was injected with sodium phenytoin (3.5 mg, teratogenic dose) just before incubation. Both the groups were divided into three subgroups each A1, A2, & A3/B1, B2 & B3. Stereomicroscope was used to observe the limb buds and cartilaginous elements in subgroups 1 and 2 on days 04 and 09 of development respectively. The embryos of subgroups 3 were assessed for gross limb deformities on hatching. Survival was noted in all the subgroups.Results: The difference in limb bud size between experimental and controls was statistically insignificant. There was no variation or deformity in the bones. The experimental group 3 had gross limb defects on hatching and the difference in survival was also statistically significant in subgroups 3.Conclusion: Prenatal administration of sodium phenytoin induces limb defects in chick embryos as evident after hatching but limb anomalies are not observed on days 04 and 09 of development as investigated by stereomicroscope. We conclude that the teratogenic effect of phenytoin is time-mediated.

ANTEROLATERAL THIGH FLAP IN LOWER LIMB RECONSTRUCTION

Introduction: Anterolateral thigh flap is one of the most researched and widely used perforator flaps in the recent decades in plastic surgery as a whole and in limb reconstruction, especially in cases with complex deflects, in particular. This report aimed to evaluate anterolateral thigh flap in reconstruction of complex lower limb soft tissue defects. Subjects and methods: From August 2014 to August 2015, at Hue University of Medicine and Pharmacy Hospital, 12 cases with complex soft tissue defects in lower limb were reconstructed and covered with ALT flaps: two distal based pedicle ALT flaps for popliteal and around knee joint defects and 10 composite ALT free flaps for lower leg reconstruction. Results: Twelve flaps used included: two peripheral pedicled fasciocutaneous flaps, ten complex free flaps (01 complex myo-fasciocutaneous flap providing muscle for deep space filled, fascial for tendon reconstruction and surface covering of the defect; 05 vastus lareralis myocutaneous flaps providing muscle for dead space filling and covering; 04 fasciocutaneous flaps involving the fascia lata for fascial reconstruction and covering). The size of flaps ranged from 8 to 27cm in length and from 6 to 13cm in width. The largest flap was 240cm2,the smallest was 50cm2. All 12 flaps survived. Short-term results at one month after surgery were consideredas good in eleven patients and fair in one patient. There were no special complications at donor sites. Paresthesia at the donor site was noted in two cases. Conclusion: ALT flap with its versatility as peripheral pedicled flap or free flap can be used in lower limb reconstruction with high success rate of 100% (12/12). Preoperative skin perforator mapping by Doppler was highly accurate (12/12) compared with intraoperative findings. Complex free ALT flap is suitable for reconstruction of major defects involving different type of tissue in lower limb with satisfied results. Key words: Anterolateral thigh flap, limb, ower limb

Diabetic Limb Salvage With Endovascular Revascularisation and Free Tissue Transfer: Long-Term Follow up

Combining vascular bypass surgery with free flap coverage is one of the treatment methods for complex soft tissue defects in the ischaemic lower limb. Endovascular revascularisation has become the first line treatment for limb ischaemia in many centres. Surgeons now perform free tissue transfer after angioplasty. The early and long-term limb salvage rate in diabetic patients who had undergone infrapopliteal endovascular revascularisation and free flap reconstruction are assessed. This was retrospective study of all consecutive diabetic patients who had undergone endovascular revascularisation with free flap reconstruction for lower limb salvage between 2008 and 2014. They were followed up for at least 2 years or to death (mean follow up 39 ± 17 months). Cox regression analysis was used to analyse variables influencing outcome. There were 55 patients who had undergone 60 procedures. Five patients had undergone the procedure to the contralateral leg. All tissue lesions were Wagner–Meggit classification Grades 3 or 4. Thirty-six patients had TASC C lesions and 24 patients with TASC D lesions. Combined below knee triple vessel disease was seen in 30% of the cases, 28% involved both the anterior and posterior tibial artery, 7% and 2% involved the anterior tibial or the posterior tibial and the peroneal arteries. The free flap success rate was 95%. The peri-operative mortality was 1.7%. Twenty-one cases required surgical re-intervention. Mean length of hospital admission was 32 ± 9 days. One and five year amputation free survival rates were 94% and 68%, patient survival rates were 95% and 67%, limb salvage rates were 93% and 91% and respectively. The results show that excellent early and late limb salvage can be achieved with free tissue transfer based on endovascular revascularisation of infrapopliteal arteries. This can be a further treatment option in diabetic patients with complex soft tissue defects.

Evaluation of a genicular axial pattern flap to repair large cutaneous tibial defects in two dogs

BackgroundClinical outcome after cutaneous reconstruction using genicular artery flaps has not been reported. Major cutaneous defects of the pelvic limb between the stifle and hock are frequent in dogs and closure is difficult due to lack of available skin from immediately adjacent areas.Case presentationHere we report the first two clinical cases successfully managed by genicular axial pattern flap closure. A 2-year-old 38 kg (83.77-lb) intact male Labrador Retriever and a 14-year-old 42 kg (92.59-lb) spayed mixed breed female dog were admitted for the management of large skin defects in the lateral tibiotarsal joint. One defect was the result of a fibrosarcoma removal in the Labrador dog and the other defect was a chronic large wound caused by a car accident in the mixed breed female dog. Both defects were reconstructed by using genicular flaps. The bed of the wound in mixed breed dog was surgically debrided and underwent open wound management until a proper granulation tissue bed was formed before reconstruction. The skin defect in the Labrador dog was covered immediately after tumor removal. After surgery both dogs were bearing weight on the limbs normally. Small area of dehiscence occurred in both dogs 2 weeks after surgery. At follow-up examination one month after surgery, the surgical wound of the Labrador retriever still had a small area of dehiscence. Two months after surgery, the wound of the mixed breed dog was completely healed, covered with hair and no lameness was observed.ConclusionFindings suggested that genicular axial pattern flap is a good option for reconstruction of large cutaneous defects of the lateral aspects of the tibia in dogs.

Modern view on the role of folates in prophylaxis of perinatal problems

One of the vital vitamins is folic acid (FA), or vitamin B9. The biggest positive effects of FA show precisely during pregnancy. It is necessary for normal growth, tissue development and proliferation, hematopoiesis and embryogenesis; for uterus, placenta growth and erythropoiesis. There is a correlation between folate deficiency in pregnant women and the risk of birth defects, not only related to the neural tube defect, but also other defects. So, today the first place among the folate-induced defects in the fetus development is heart failure, followed by a defect of the nervous tube, limb defects and non-enlargement of the palate and upper lip, urinary system defects. Therefore, there is a question about the external FA provision in the form of drugs for pregnant. But all synthetic drugs with FA are chemical inactive compounds, which in the human body have to go through a cascade of transformations. FA is not digested due to the genes polymorphism of the folate cycle enzymes, which occurs in about half of women. Therefore an increase in the FA dose is not a solution to this problem, since the accumulation of non-metabolized biologically inactive FA form in blood will lead to blockade of active folate receptors and increase the folate deficiency. Therefore, a stable molecule of synthetic biologically active folate form based on the FA metabolite L-5-methyltetrahydrofolate (MTHF) was created, which differs by the presence of calcium ion. The substance is called “metafolin”. It quickly dissolves in the body into calcium ions and L-5-MTHF, which continues to perform all important functions of folate. It has been proven in clinical trials that, regardless of the genotype and activity of the methylenetetrahydrofolate reductase in women, metafolin have a higher bioavailability and more effectively promotes increased folate levels in plasma than the same dose of FA. On this basis a fundamentally new drug Femibion Natalcare for pregnancy and lactation was created.

The role of pedicled abdominal flaps in hand and forearm composite tissue injuries: Results of technical refinements for safe harvest

We evaluated the outcome of new technical refinements in abdominal flap coverage of major defects in upper limb for its reliability and safety. 68 patients were assessed for indications, additional procedures, complications and DASH questionnaire evaluation at the end of a year. The mean size of flap was 56 cm2 (range 6-250 cm2). Median DASH score was 11.5 (range: 0-63). Hand stiffness was observed in 39% of patients. However, this was absent in whom prophylactic pinning of metacarpophalangeal joints were done in James position. Abdominal flaps give satisfactory results in hand injuries. Competent hand therapy program is essential to get best results.

Remote-controlled internal lengthening plate for distraction osteogenesis in pediatric patients

ABSTRACTObjectives: Limb lengthening by distraction osteogenesis is a technique widely used to treat limb length discrepancy resulting from trauma, congenital limb defects and long bone non-union. For decades, patients have resorted to the Ilizarov apparatus, prone to pin tract infections and scarring. Although implantable lengthening nails have reduced the incidence of complications, they are not applicable in pediatric patients with open growth plates. The aim of this project is to design a remote-controlled internal lengthening device suitable for implantation in children.Methods: The proposed device has the form of an internal remote-controlled telescopic lengthening plate, screwed to the lateral side of the bone with locking screws. This is appropriate for use with pediatric patients. It has been tested on an experimental bench which has the form of a vertically sliding platform, on which were stacked weights simulating soft-tissue resistance forces.Results: This internal lengthening plate generated distraction forces of up to 735 N on wooden and synthetic bones (SawbonesTM). Furthermore, it maintained a constant distraction speed over the course of the procedure for a given weight.Conclusions: This device represents a major advancement in the field of pediatric limb-lengthening, addressing a demographic gap left open by current implantable devices.

Quality of Life after Flap Reconstruction of the Distal Lower Extremity: Is There a Difference Between a Pedicled Suralis Flap and a Free Anterior Lateral Thigh Flap?

Background:Flap reconstruction of the distal lower extremity is challenging. Especially, the concept of perforator surgery has increased available surgical options. Although results are generally judged in terms of objective facts, patients-perceived quality of life has largely remained unexamined. The aim of the study was to compare quality of life after lower extremity reconstruction with pedicled and free flaps.Methods:Patients were evaluated retrospectively after reconstruction of defects of the distal lower extremity either with distally based adipofascial sural flap (pedicled reverse sural flap) or an anterior lateral thigh (ALT) flap. A specific questionnaire was developed to measure the patient’s quality of life, based on short form health survey-12, Dresden Body Image Score-35, Patient Health Questionnaire-4, and X-SMFA questionnaires with additional specific questions. Furthermore, results, secondary surgeries, and complications were analyzed.Results:Thirty-seven patients with reconstruction of lower limb defects treated with a pedicled reverse sural flap and 34 patients treated with an ALT flap were included in the study. There was no statistical significant difference in the overall satisfaction with the procedure in the long-term follow-up between both groups, but patients with ALT showed a higher satisfaction with the treatment in the initial postoperative period. Both groups demonstrated approximately similar results in the long term for self-acceptance and vitality.Conclusions:Although anatomic situation may dictate flap choice coverage with free flaps, a less-complicated flap is by no means regarded as an inferior treatment option in patient’s estimation. Despite the intuitive speculation that patients with more advanced reconstruction methods should have better function and subsequently higher quality of life, this assumption was clearly not supported by data in this study.

Editor's Choice – Diabetic Limb Salvage With Endovascular Revascularisation and Free Tissue Transfer: Long-Term Follow up

Combining vascular bypass surgery with free flap coverage is one of the treatment methods for complex soft tissue defects in the ischaemic lower limb. Endovascular revascularisation has become the first line treatment for limb ischaemia in many centres. Surgeons now perform free tissue transfer after angioplasty. The early and long-term limb salvage rate in diabetic patients who had undergone infrapopliteal endovascular revascularisation and free flap reconstruction are assessed. This was retrospective study of all consecutive diabetic patients who had undergone endovascular revascularisation with free flap reconstruction for lower limb salvage between 2008 and 2014. They were followed up for at least 2 years or to death (mean follow up 39±17 months). Cox regression analysis was used to analyse variables influencing outcome. There were 55 patients who had undergone 60 procedures. Five patients had undergone the procedure to the contralateral leg. All tissue lesions were Wagner-Meggit classification Grades 3 or 4. Thirty-six patients had TASC C lesions and 24 patients with TASC D lesions. Combined below knee triple vessel disease was seen in 30% of the cases, 28% involved both the anterior and posterior tibial artery, 7% and 2% involved the anterior tibial or the posterior tibial and the peroneal arteries. The free flap success rate was 95%. The peri-operative mortality was 1.7%. Twenty-one cases required surgical re-intervention. Mean length of hospital admission was 32±9 days. One and five year amputation free survival rates were 94% and 68%, patient survival rates were 95% and 67%, limb salvage rates were 93% and 91% and respectively. The results show that excellent early and late limb salvage can be achieved with free tissue transfer based on endovascular revascularisation of infrapopliteal arteries. This can be a further treatment option in diabetic patients with complex soft tissue defects.

Hospital Care and Surgical Treatment of Children With Congenital Upper Limb Defects.

To evaluate hospital care of children with congenital upper limb defects. Three hundred and sixty-two children with an upper limb defect, born 1993-2005, and alive after birth admission were identified in the Finnish Register of Congenital Malformations. The data on hospital care, with focus on operative treatment, were collected from the National Hospital Discharge Register, until 31 December 2009. Mean follow-up was 10.2 years (range: 4-17 years). The results were compared with data on the whole children population (1.1 million) in Finland. Most children (321, 87%) with upper limb defects had hospital admissions: on average, one admission/year (range: 0-36), and they were treated in hospital 5 days/year (range: 0-150), which is 11-fold compared with an average child in Finland. Four surgical procedures/child were done (range: 0-45), including one hand surgical procedure. The most common procedures were orthopedic (513); gastrointestinal (263); ear, nose, and throat (143); dental (118); thoracic (48); and urologic (44). Of the 513 orthopedic procedures, 326 were directed to upper limbs, 107 to the lower limbs, and 10 to the spine. Median operation age was 2 years 7 months. Altogether, 60% of hospital admissions were non-surgical. Leading causes of non-operative hospital admissions were congenital anomalies (32%), gastroenterological problems (20%), respiratory tract conditions (13%), neurological problems (7%), perinatal conditions (5%), and infectious diseases (5%). Treatment of children with upper limb defects is teamwork between pediatric and surgical subspecialties. Burden of hospital care is 11-fold as compared with an average child.

Anatomical Study of the Descending Genicular Artery Chimeric Flaps

Purpose: With increasing use of the chimeric flap of the descending genicular artery, the authors systematically investigated the anatomy of its branches in cadavers. Methods: Fifteen fresh cadaveric thighs were studied by anatomical dissection. The branches of the descending genicular arteries were skeletonized along their courses to the femoral arteries. Branches’ lengths and diameters were measured to simulate the combined application of the skin, muscle, bone, osteochondral and osteocutaneous flaps with tendon enthesis. Results: The descending genicular artery was noted in 11 thighs, with an average diameter of 1.94 ± 0.36 mm and an average length of 10.69 ± 4.41 mm. In addition, the saphenous artery was noted in all 15 thighs, and the average diameter of the original part was 1.35 ± 0.18 mm. Branches arose from the saphenous artery to supply the skin above the knee, the anterior of tibia, the sartorius muscle and the pes anserinus. The average diameter of the osteoarticular artery was 1.80 ± 0.46 mm which divaricated into a periosteal branch to supply the bone above the medial femoral epicondyle and a few articular branches to supply the bone and the cartilage of the medial femoral condyle. Conclusions: This study systematically investigated the anatomy of the descending genicular artery and its branches. Based on the anatomical features of descending genicular artery, chimeric flap offers combination therapy with other tissue flaps. Besides, considering its long chimeric arm, chimeric flap could be used to repair not only local complex injuries but also defects in different locations. Clinical Relevance: The descending genicular artery chimeric flap is a clinical option for reconstructing compound tissue defects of limbs.

Novel compound heterozygous mutations of the DOCK6 gene in a familial case of Adams-Oliver syndrome 2

IntroductionAdams-Oliver syndrome (AOS) is a rare developmental disorder characterized by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects. DOCK6 (Dedicator of cytokinesis 6) is one of the six identified AOS genes. MethodsWe performed targeted next-generation sequencing (NGS) of a child with an AOS phenotype. Sanger DNA sequencing further validated her lineal consanguinity. To explore the pathological features of the mutation, a minigene assay was used to investigate the effects of the mutation on splicing. ResultsTwo compound heterozygous DOCK6 mutations (c.4106+2T>C and c.3063 C>G (p.Y1021*)) were identified in this family, and both mutations have not been reported previously. Sanger DNA sequencing indicated that the mutations were inherited maternally and paternally, respectively. The results of the minigene assay showed that the c.4106+2T>C mutation resulted in aberrant splicing and caused a four-nucleotide insertion in the transcript and a premature stop codon. ConclusionsOur findings expanded the number of reported cases of this rare disease and the mutation spectrum of DOCK6 mutations, which can serve as the basis for prenatal diagnosis and genetic counseling.

Study on use of Nonvascularized Autologous Fibular Strut Graft with Autologous Cancellous Bone Graft for Treating Segmental Bone Defects of Upper Limb

Study on use of Nonvascularized Autologous Fibular Strut Graft with Autologous Cancellous Bone Graft for Treating Segmental Bone Defects of Upper Limb

Sequential chimeric deep circumflex iliac artery perforator flap and flow-through anterolateral thigh perforator flap for one-stage reconstruction of complex tissue defects

Simultaneous reconstruction of composite bone and large soft-tissue defect areas is challenging for reconstructive surgeons. This study presents a microsurgical sequential chimeric flap composed of a flow-through anterolateral thigh perforator (ALTP) flap and a deep circumflex iliac artery perforator (DCIAP) chimeric flap for one-stage reconstruction of a complex tissue defect in limbs. A retrospective analysis was performed among patients who underwent reconstruction of bone composite and large soft-tissue defect areas in limbs using a sequential chimeric flap. A flow-through ALTP flap and a DCIAP chimeric flap were microsurgically fabricated as sequential chimeric flaps. Ten patients were successfully treated with the sequential chimeric flaps. All components of the flaps survived in all patients. Primary closure of the donor site was achieved in all cases. The sizes of the flow-through ALTP flaps ranged from 16 × 6 cm to 27 × 8 cm. The size of the cutaneous portion of the DCIAP chimeric flap ranged from 11 × 4 cm to 20 × 9 cm, and bone flap sizes ranged from 1 × 3 × 2 cm to 2.5 × 8 × 3 cm. A vascular compromise was observed postoperatively in one case. Only one case suffered minor wound-edge necrosis. Mean follow-up time was 13.1 months. Most cases showed a satisfactory contour, and no fracture of transferred iliac segments occurred. The sequential chimeric ALTP-DCIAP flap is a valuable alternative for one-stage reconstruction of composite bone and large soft-tissue defects in limbs. This approach is flexible and provides a large cutaneous area with primary closure of the donor site.

Identification of NSDHL mutations associated with CHILD syndrome in oral verruciform xanthoma

The aim of this study was to perform a systematic analysis of the nicotinamide adenine dinucleotide phosphate (NAD[P])-dependent steroid dehydrogenase-like (NSDHL) gene in cases of oral verruciform xanthoma (VX) and to test for the presence of mutations associated with congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome. DNA was extracted from archived paraffin-embedded tissue of oral VX and control cases. Polymerase chain reaction (PCR) was then used to screen exons 4 and 6 of the NSDHL gene for the presence of 4 known germline mutations associated with CHILD syndrome and 1 somatic mutation previously identified in VX lesions with no known association with CHILD syndrome. Of the 16 oral VX tissue samples, 8 (50%) had known missense mutations associated with CHILD syndrome. Furthermore, 2 of these 8 tissue samples also had an additional missense mutation previously identified in cutaneous VX lesions. No mutations of exons 4 and 6 were found in the 5 negative control tissue samples. NSDHL gene mutations associated with CHILD syndrome are common in sporadic oral VX cases, suggesting that these mutations confer a greater risk for the development of epithelial barrier defects that promote recurrent oral VX lesions and the potential for direct germline transmission of oral VX susceptibility.

Defining a critical period in calvarial development for Hedgehog pathway antagonist-induced frontal bone dysplasia in mice

The Hedgehog (Hh) signalling pathway is essential for cellular proliferation and differentiation during embryonic development. Gain and loss of function of Hh signalling are known to result in an array of craniofacial malformations. To determine the critical period for Hh pathway antagonist-induced frontal bone hypoplasia, we examined patterns of dysmorphology caused by Hh signalling inhibition. Pregnant mice received a single oral administration of Hh signalling inhibitor GDC-0449 at 100 mg•kg−1 or 150 mg•kg−1 body weight at preselected time points between embryonic days (E)8.5 and 12.5. The optimal teratogenic concentration of GDC-0449 was determined to be 150 mg•kg−1. Exposure between E9.5 and E10.5 induced frontal bone dysplasia, micrognathia and limb defects, with administration at E10.5 producing the most pronounced effects. This model showed decreased ossification of the frontal bone with downregulation of Hh signalling. The osteoid thickness of the frontal bone was significantly reduced. The amount of neural crest-derived frontal bone primordium was reduced after GDC-0449 exposure owing to a decreased rate of cell proliferation and increased cell death.

Relationship between lower-extremity defects and body mass among polish children: a cross-sectional study

BackgroundLower extremity defects in healthy children raises interest of researchers as confirmed by numerous published original and review articles. The relationship between lower extremity postural defects and body mass are unclear as published data are inconclusive. The aim of the present cross-sectional study was to analyse the prevalence of lower extremity defects in a large group of 8- to 12-year-old children; and further to assess the probability of defects associated with values of body mass variables.MethodsThe study included prospective anthropometric measurements data of 6992 children (3476 boys and 3516 girls) from Gdansk (Northern Poland). Standard screening test used in Poland for assessment of lower limb defects were used (intermalleolar or intercondylar distance for knee alignment, linear vertical compass for valgus heel, computer podoscope or classical footprint and measuring the Sztriter-Godunow index for flatfeet). Body mass was assessed with local centile charts and IOTF cutoffs. Prevalence of postural defects was compared with an aid of Pearson’s chi-squared test and Fisher’s exact test. Probability of lower extremities postural defect was estimated on the basis of logistic regression analysis, and expressed as an odds ratio (OR) and its 95.0% CI.ResultsThe study demonstrated that cumulative prevalence of lower extremity defects (31.5%) was lower than reported in most published studies, most common defects were valgus heel (21.8%) and valgus knee (14.5%). Boys were significantly more frequently diagnosed with lower limb defects overall (p < 0.001), as well as with varus knee, valgus heel, flatfoot of any degree. Limb defects were found in 90,2% of obese children, 25,7% of normal weight and 15,1% of underweight children.ConclusionsPrevalence of some lower extremities defects seems to be sex specific. Prevalence varied across body weight categories and was rising with the increase of BMI. Increased body mass is correlated with a higher risk of developing lower extremity postural defects in children.

A Study on the use of Abdominal Flaps to Reconstruct Upper Limb Defects

A Study on the use of Abdominal Flaps to Reconstruct Upper Limb Defects

Detection of structural abnormalities in fetuses with normal karyotype at 11–13 weeks using the anatomic examination protocol of the International Society of Ultrasound in Obstetrics and Gynecology (ISUOG)

Objective: To assess the performance of sonography in the detection of fetal nonchromosomal abnormalities using a standard anatomic examination protocol proposed by International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) at 11+0–13+6 weeks.Materials and methods: A prospective observational study was conducted between June 2013–May 2017 in singleton pregnancies attending for a routine scan at 11+0–13+6 weeks. All examinations were performed by maternal-fetal medicine specialists certified by the Fetal Medicine Foundation according to the anatomic examination protocol described in the ISUOG guidelines. First-trimester findings were compared to those of the anomaly scan at 20+0–23+6 weeks and the postnatal examination. The primary outcome was the detection rate of major structural abnormalities in fetuses with normal karyotype at 11+0–13+6 weeks.Results: After excluding 17 chromosomal abnormalities, major fetal structural defects were detected in 57 (1.7%) of the remaining 3361 cases. Of these, 27 (47.3%) were detected at 11+0–13+6 weeks, including all cases of acrania (4), exomphalos (4), megacystis (2) and body stalk anomaly (2). Furthermore, there was a first-trimester diagnosis in 36.4% (4/11) of major cardiac defects, 38% (6/16) of limb defects, and 100% (2/2) of facial clefts.Discussion: Targeted ultrasound examination may identify all the so called “always” detectable major abnormalities and a significant proportion of the “sometimes”, detectable at 11+0–13+6 weeks.