CA2763503A1 - Computer program for the diagnosis of genetic syndromes and developmental abnormalities - Google Patents
Computer program for the diagnosis of genetic syndromes and developmental abnormalities Download PDFInfo
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- CA2763503A1 CA2763503A1 CA2763503A CA2763503A CA2763503A1 CA 2763503 A1 CA2763503 A1 CA 2763503A1 CA 2763503 A CA2763503 A CA 2763503A CA 2763503 A CA2763503 A CA 2763503A CA 2763503 A1 CA2763503 A1 CA 2763503A1
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- measurements
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- computer program
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- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61B—DIAGNOSIS; SURGERY; IDENTIFICATION
- A61B5/00—Measuring for diagnostic purposes; Identification of persons
- A61B5/103—Detecting, measuring or recording devices for testing the shape, pattern, colour, size or movement of the body or parts thereof, for diagnostic purposes
- A61B5/107—Measuring physical dimensions, e.g. size of the entire body or parts thereof
- A61B5/1075—Measuring physical dimensions, e.g. size of the entire body or parts thereof for measuring dimensions by non-invasive methods, e.g. for determining thickness of tissue layer
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61B—DIAGNOSIS; SURGERY; IDENTIFICATION
- A61B5/00—Measuring for diagnostic purposes; Identification of persons
- A61B5/0033—Features or image-related aspects of imaging apparatus classified in A61B5/00, e.g. for MRI, optical tomography or impedance tomography apparatus; arrangements of imaging apparatus in a room
- A61B5/004—Features or image-related aspects of imaging apparatus classified in A61B5/00, e.g. for MRI, optical tomography or impedance tomography apparatus; arrangements of imaging apparatus in a room adapted for image acquisition of a particular organ or body part
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61B—DIAGNOSIS; SURGERY; IDENTIFICATION
- A61B8/00—Diagnosis using ultrasonic, sonic or infrasonic waves
- A61B8/08—Detecting organic movements or changes, e.g. tumours, cysts, swellings
- A61B8/0866—Detecting organic movements or changes, e.g. tumours, cysts, swellings involving foetal diagnosis; pre-natal or peri-natal diagnosis of the baby
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61B—DIAGNOSIS; SURGERY; IDENTIFICATION
- A61B2503/00—Evaluating a particular growth phase or type of persons or animals
- A61B2503/02—Foetus
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61B—DIAGNOSIS; SURGERY; IDENTIFICATION
- A61B2503/00—Evaluating a particular growth phase or type of persons or animals
- A61B2503/04—Babies, e.g. for SIDS detection
- A61B2503/045—Newborns, e.g. premature baby monitoring
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
- G16H50/00—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
- G16H50/20—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for computer-aided diagnosis, e.g. based on medical expert systems
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- Health & Medical Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Medical Informatics (AREA)
- Molecular Biology (AREA)
- Veterinary Medicine (AREA)
- Biophysics (AREA)
- Pathology (AREA)
- Engineering & Computer Science (AREA)
- Biomedical Technology (AREA)
- Heart & Thoracic Surgery (AREA)
- Public Health (AREA)
- Physics & Mathematics (AREA)
- Surgery (AREA)
- Animal Behavior & Ethology (AREA)
- General Health & Medical Sciences (AREA)
- Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
- Radiology & Medical Imaging (AREA)
- Dentistry (AREA)
- Oral & Maxillofacial Surgery (AREA)
- Gynecology & Obstetrics (AREA)
- Pregnancy & Childbirth (AREA)
- Eye Examination Apparatus (AREA)
Description
Computer Program for the Diagnosis of Genetic Syndromes and Developmental Abnormalities The invention is a computer program for the diagnosis of genetic syndromes and developmental abnormalities in fetuses, children and adults.
Many medical conditions and/or syndromes have specific physical features, such as interpupillary distance and skull shape, that are used by physicians or medical allied health workers as an aid in diagnoses. For example, increased distance between the eyes of an individual can be an indicator of a condition called Noonan syndrome.
But it is also found in more than thirty other conditions. To differentiate among such syndromes or conditions it helps to increase the amount of data one acquires, such as the shape of the hands and fingers. For example, hypertelorism with tapering fingers and bulbous nose are features that are more likely to be consistent with Coffin-Lowry Syndrome.
Currently, there are many drawbacks of using this type of technique to try to evaluate for disease. Firstly, many of the measurements are difficult and time-consuming to obtain, since most children are not cooperative enough to allow for all the measurements to be properly acquired. Even if all the measurements are acquired, an operator currently still needs to manually mark and measure these features even when a still image is used, which is highly time-consuming and would not be feasible for use as a screening tool for millions of children or adults. As well, currently many diagnoses are based on visual interpretations combining many features (or gestalt) of facial and/or other physical features that are highly subjective in nature and lack reproducibility. This can often lead to inappropriate genetic testing and unnecessary costs totaling thousands of dollars.
1. Prenatal (fetal):
a. This invention is a computer program that will automate a process of assess scanning fetal anatomy for malformations using facial recognition-like software algorithms. In existing imaging systems an operator manually marks and measures, which is highly time-consuming. These measurements and physical characteristics are then used to provide an assessment of the anatomy of a fetus. Many of the measurements are not only difficult and time consuming to obtain, but since they are manually captured they can be highly variable and are open to error since they are operator-dependent. If any abnormalities are detected upon imaging, invasive techniques are often employed, such as amniocentesis of chorionic villi sampling, that puts the viability of the fetus at risk. By automating the process this invention will decrease the risk of harm to the mother and fetus and give a more accurate risk assessment of congenital or developmental malformations of the child. Automating the process would also increase the ability to offer this screening in areas where there is a lack of skilled operators. Measurements, such as the crown to rump length, which is the length of a human from the top of the head to the buttocks, and/or the measurements of long bones such as the femur and humerus, will be acquired and compared to a database of measurements appropriate for the fetal age. These measurements, will then be compared with existing measurements for many genetic and developmental syndromes using a computer program. Simultaneously, a comparison will be made between an "idealized" composite made from the measurements acquired from the patient's parents and siblings, and the measurements from the patient. This will allow for detection of intrafamilial variance and further help in the diagnosis and treatment of the fetus.
b. Use of these non-invasive findings can help a couple decide whether to pursue genetic testing and counselling.
Many medical conditions and/or syndromes have specific physical features, such as interpupillary distance and skull shape, that are used by physicians or medical allied health workers as an aid in diagnoses. For example, increased distance between the eyes of an individual can be an indicator of a condition called Noonan syndrome.
But it is also found in more than thirty other conditions. To differentiate among such syndromes or conditions it helps to increase the amount of data one acquires, such as the shape of the hands and fingers. For example, hypertelorism with tapering fingers and bulbous nose are features that are more likely to be consistent with Coffin-Lowry Syndrome.
Currently, there are many drawbacks of using this type of technique to try to evaluate for disease. Firstly, many of the measurements are difficult and time-consuming to obtain, since most children are not cooperative enough to allow for all the measurements to be properly acquired. Even if all the measurements are acquired, an operator currently still needs to manually mark and measure these features even when a still image is used, which is highly time-consuming and would not be feasible for use as a screening tool for millions of children or adults. As well, currently many diagnoses are based on visual interpretations combining many features (or gestalt) of facial and/or other physical features that are highly subjective in nature and lack reproducibility. This can often lead to inappropriate genetic testing and unnecessary costs totaling thousands of dollars.
1. Prenatal (fetal):
a. This invention is a computer program that will automate a process of assess scanning fetal anatomy for malformations using facial recognition-like software algorithms. In existing imaging systems an operator manually marks and measures, which is highly time-consuming. These measurements and physical characteristics are then used to provide an assessment of the anatomy of a fetus. Many of the measurements are not only difficult and time consuming to obtain, but since they are manually captured they can be highly variable and are open to error since they are operator-dependent. If any abnormalities are detected upon imaging, invasive techniques are often employed, such as amniocentesis of chorionic villi sampling, that puts the viability of the fetus at risk. By automating the process this invention will decrease the risk of harm to the mother and fetus and give a more accurate risk assessment of congenital or developmental malformations of the child. Automating the process would also increase the ability to offer this screening in areas where there is a lack of skilled operators. Measurements, such as the crown to rump length, which is the length of a human from the top of the head to the buttocks, and/or the measurements of long bones such as the femur and humerus, will be acquired and compared to a database of measurements appropriate for the fetal age. These measurements, will then be compared with existing measurements for many genetic and developmental syndromes using a computer program. Simultaneously, a comparison will be made between an "idealized" composite made from the measurements acquired from the patient's parents and siblings, and the measurements from the patient. This will allow for detection of intrafamilial variance and further help in the diagnosis and treatment of the fetus.
b. Use of these non-invasive findings can help a couple decide whether to pursue genetic testing and counselling.
2. Postnatal (after birth, i.e. children and adults):
a. This invention is a computer program that will automate a process of fetal anatomy assessment scanning for malformations using facial recognition-like software algorithms. This invention comprises a computer software program that will automate the system of diagnosis based on facial recognition principles to standardize and systematize a screen to assess for genetic syndromes and/or developmental abnormalities. This is akin to the existing newborn screen conducted in almost all developed countries, where a heel stick is used to procure a blood sample from almost every child born in the developed world to screen for dozens of metabolic syndromes. These morphological developmental abnormalities will be captured using imaging modalities such as ultrasound, 2D and/or 3D and infrared detectors. Measurements, such as the interpupillary distance, which is the distance measured between the center of the pupils of the two eyes, and/or the measurement between the first and second toes, will be acquired and compared to a database of measurements appropriate for the individual's age. These measurements, such as from the face, ears and hands, will then be compared with existing measurements for many syndromes using a computer program.
Simultaneously, a comparison will be made between an "idealized"
composite made from the measurements acquired from the patient's parents and siblings, and the measurements from the patient. This will allow for detection of intrafamilial variance and further help in the diagnosis and treatment of the patient.
a. This invention is a computer program that will automate a process of fetal anatomy assessment scanning for malformations using facial recognition-like software algorithms. This invention comprises a computer software program that will automate the system of diagnosis based on facial recognition principles to standardize and systematize a screen to assess for genetic syndromes and/or developmental abnormalities. This is akin to the existing newborn screen conducted in almost all developed countries, where a heel stick is used to procure a blood sample from almost every child born in the developed world to screen for dozens of metabolic syndromes. These morphological developmental abnormalities will be captured using imaging modalities such as ultrasound, 2D and/or 3D and infrared detectors. Measurements, such as the interpupillary distance, which is the distance measured between the center of the pupils of the two eyes, and/or the measurement between the first and second toes, will be acquired and compared to a database of measurements appropriate for the individual's age. These measurements, such as from the face, ears and hands, will then be compared with existing measurements for many syndromes using a computer program.
Simultaneously, a comparison will be made between an "idealized"
composite made from the measurements acquired from the patient's parents and siblings, and the measurements from the patient. This will allow for detection of intrafamilial variance and further help in the diagnosis and treatment of the patient.
3. Dysmorphology surveillance a. This invention is a computer program that will use data captured over the course of a child's development to screen for any genetic and/or development of dysmorphic features, such as microcephaly associated with cerebral palsy, and storage disorders, such as Hurler Syndrome or Nonketotic Hyperglycemia.
b. The algorithm will include the parents and any biological siblings of the subject when available, who will be assessed and provide the basis of comparison to estimate a template of normalcy by which to screen the subject.
b. The algorithm will include the parents and any biological siblings of the subject when available, who will be assessed and provide the basis of comparison to estimate a template of normalcy by which to screen the subject.
Claims
Claim:
A computer system for the diagnosis of genetic syndromes and developmental abnormalities of a patient, the system comprising:
A first data collection module, capable of obtaining facial measurements of the patient;
A database of data correlating physiological measurements with genetic symptoms and syndromes;
A second data collection module, capable of obtaining facial measurements of biological relatives of the patient;
A data filter module, capable of comparing the patient's facial measurements with the facial measurements of the biological relatives to produce a filtered set of patient facial measurements;
A data processing module, capable of comparing the filtered set of patient facial measurements with the database; and A second data processing module, capable of comparing the facial measurements over time of an individual; and A reporting module, capable of providing a report of the comparison and an associated diagnosis.
A computer system for the diagnosis of genetic syndromes and developmental abnormalities of a patient, the system comprising:
A first data collection module, capable of obtaining facial measurements of the patient;
A database of data correlating physiological measurements with genetic symptoms and syndromes;
A second data collection module, capable of obtaining facial measurements of biological relatives of the patient;
A data filter module, capable of comparing the patient's facial measurements with the facial measurements of the biological relatives to produce a filtered set of patient facial measurements;
A data processing module, capable of comparing the filtered set of patient facial measurements with the database; and A second data processing module, capable of comparing the facial measurements over time of an individual; and A reporting module, capable of providing a report of the comparison and an associated diagnosis.
Priority Applications (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| CA2763503A CA2763503A1 (en) | 2012-01-16 | 2012-01-16 | Computer program for the diagnosis of genetic syndromes and developmental abnormalities |
Applications Claiming Priority (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| CA2763503A CA2763503A1 (en) | 2012-01-16 | 2012-01-16 | Computer program for the diagnosis of genetic syndromes and developmental abnormalities |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| CA2763503A1 true CA2763503A1 (en) | 2013-07-16 |
Family
ID=48794282
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CA2763503A Abandoned CA2763503A1 (en) | 2012-01-16 | 2012-01-16 | Computer program for the diagnosis of genetic syndromes and developmental abnormalities |
Country Status (1)
| Country | Link |
|---|---|
| CA (1) | CA2763503A1 (en) |
Cited By (1)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US9392977B2 (en) | 2013-03-13 | 2016-07-19 | Fdna Inc. | Systems, methods, and computer readable media for using descriptors to identify when a subject is likely to have a dysmorphic feature |
-
2012
- 2012-01-16 CA CA2763503A patent/CA2763503A1/en not_active Abandoned
Cited By (10)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US9392977B2 (en) | 2013-03-13 | 2016-07-19 | Fdna Inc. | Systems, methods, and computer readable media for using descriptors to identify when a subject is likely to have a dysmorphic feature |
| US9504428B1 (en) | 2013-03-13 | 2016-11-29 | Fdna Inc. | Systems, methods, and computer readable media for using descriptors to identify when a subject is likely to have a dysmorphic feature |
| US9579068B2 (en) | 2013-03-13 | 2017-02-28 | Fdna Inc. | Systems, methods, and computer readable media for using descriptors to identify when a subject is likely to have a dysmorphic feature |
| US9597037B2 (en) | 2013-03-13 | 2017-03-21 | Fdna Inc. | Systems, methods, and computer-readable media for determining when a subject is likely to be affected by a genetic disorder |
| US9668702B2 (en) | 2013-03-13 | 2017-06-06 | Fdna Inc. | Systems, methods, and computer readable media for using descriptors to identify when a subject is likely to have a dysmorphic feature |
| US9848829B2 (en) | 2013-03-13 | 2017-12-26 | Fdna Inc. | Systems, methods, and computer readable media for using descriptors to identify when a subject is likely to have a dysmorphic feature |
| US10004463B2 (en) | 2013-03-13 | 2018-06-26 | Fdna Inc. | Systems, methods, and computer readable media for using descriptors to identify when a subject is likely to have a dysmorphic feature |
| US10016167B2 (en) | 2013-03-13 | 2018-07-10 | Fdna Inc. | Systems, methods, and computer-readable media for time lapse image comparison in genetic disorder analysis |
| US10165983B2 (en) | 2013-03-13 | 2019-01-01 | Fdna Inc. | Systems, methods, and computer-readable media for determining a likely presence of a genetic disorder |
| US10722181B2 (en) | 2013-03-13 | 2020-07-28 | Fdna, Inc. | Systems, methods, and computer-readable media for using descriptors to identify when a subject is likely to have a dysmorphic feature |
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Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| FZDE | Discontinued |
Effective date: 20140808 |