Genetics/MFM

BORN ID	Data Element Name	Encounter
BIS0001	BIS Encounter Submission Status	Genetics/MFM, HBHC Child
Data Definition: BIS Encounter Submission Status Pick List Value:
BIS0002	BIS Encounter Type	Genetics/MFM, HBHC Child
Data Definition: BIS Encounter Type Pick List Value:
BIS0003	BIS Aggregate ID associated with BIS encounter	Genetics/MFM, HBHC Child
Data Definition: BIS Aggregate ID associated with BIS encounter Pick List Value:
BIS0004	BIS Person ID associated with BIS encounter	Genetics/MFM, HBHC Child
Data Definition: BIS Person ID associated with BIS encounter Pick List Value:
BIS0005	BIS Address ID associated with BIS encounter	Genetics/MFM, HBHC Child
Data Definition: BIS Address ID associated with BIS encounter Pick List Value:
BIS0006	BIS Person Name ID associated with BIS encounter	Genetics/MFM, HBHC Child
Data Definition: BIS Person Name ID associated with BIS encounter Pick List Value:
FAN0007	Number of Fetuses	Antenatal General, Genetics/MFM, Labour & Birth Mother, NIPT, PSP Screen
This data element is available for request but because it's a quasi-identifier it can make the individual more unique in the population and hence easier to re-identify especially in combination with other variables. Categories/generalization and/or suppression might be necessary. Data Definition: Number of fetuses in the current pregnancy. For Prenatal Screening Follow Up encounters, this field refers to the number of fetuses that the prenatal screening result was based on. Pick List Value: 1 2 3 4 5 6 7 8 Unknown
GMFM001	BIS Encounter ID of GMFM record	Genetics/MFM
Data Definition: BIS Encounter ID of GMFM record Pick List Value:
GMFM002	Genetics / MFM Organization	Genetics/MFM
Data Definition: Genetics / MFM Organization Pick List Value:
GMFM003	Date of 1st appointment at specialty clinic	Genetics/MFM
Data Definition: Date of first appointment in the specialty clinic entering their data into this encounter. This clinic may be a genetics clinic or a maternal fetal medicine clinic. Multiple courses of care can be created to indicate that the patient has seen both genetics and maternal fetal medicine or was seen in the same specialty clinic on a subsequent date for a different maternal/fetal indication (eg. the patient was seen in genetics for a positive multiple marker screen and then seen again on a separate date for an ultrasound abnormality). Pick List Value:
GMFM004	GMFM Maternal / Fetal Indications	Genetics/MFM
Data Definition: Maternal and/or fetal indications for which the patient was counselled during the current pregnancy at a tertiary care centre. Please include all indications for which the patient was counselled on during their appointments in the specialty clinic. Additional courses of care can be added if the patient was discharged and re-referred or seen on a subsequent date for a different indication than the initial referral. Pick List Value: Maternal age >= 40 at EDB Positive Multiple Marker Screen (eg. eFTS, MSS-Quad) Positive Non-Invasive Prenatal Testing (NIPT) Inconclusive/No Result/Failed NIPT Increased nuchal translucency (>= 3.5 mm) Cystic hygroma Ultrasound soft marker(s) Ultrasound abnormality Pregnancy Hx/Family Hx of a congenital abnormality/genetic condition/chromosome abnormality/developmental delay Consanguinity Recurrent pregnancy loss Maternal exposure/disease Other Unknown
GMFM004OTH	GMFM Maternal / Fetal Indications, Other	Genetics/MFM
Data Definition: BORN recognizes that the picklist values provided for the "Maternal / Fetal Indications" field may not be exhaustive as the Genetics/MFM encounter is a new dataset for BORN. Any values provided in this field will be considered as possible additions or clarifications in future enhancements and will allow users to document accurately. Please note that this field is temporary and that data here will not be used in BORN reports. If you have any questions or concerns, please let us know. Pick List Value:
GMFM005	Was detailed fetal imaging done?	Genetics/MFM
Data Definition: Indication for which fetal imaging was performed for direction visualization of fetal structures to monitor/detect structural anomalies. Include level II, routine morphology and nuchal translucency ultrasound imaging (if applicable) done at a tertiary care centre and/or community ultrasound facility. Multiple selections can be made. Pick List Value: Yes - First Trimester ultrasound (including nuchal translucency ultrasound) Yes - Second Trimester ultrasound Yes - Third Trimester ultrasound Yes - Fetal Echocardiogram Yes - Fetal MRI No Unknown
GMFM006	Fetal Anomalies Identified Flag	Genetics/MFM
Data Definition: Indicate whether there were fetal anomalies identified and/or confirmed by fetal imaging (ultrasound, MRI, fetal echocardiogram) at a tertiary care centre or at an ultrasound clinic referred to by a tertiary care provider. Pick List Value:
GMFM007	Fetal Anomalies	Genetics/MFM
Data Definition: Picklist of fetal anomalies. Please select all anomalies identified in fetus and be as specific as possible when selecting the anomalies. "Other" anomaly picklist options are provided for anomalies outside of this list. Pick List Value: Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Absent cavum septum pellucidum (CSP) Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Absent cerebellar vermis Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Acrania or Anencephaly Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Arachnoid cyst(s) Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Arnold Chiari Malformation Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Aqueductal stenosis Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Corpus Callosum - Agenesis (ACC) Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Dandy walker malformation/ variant (DWM) Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Encephalocele Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Enlarged cisterna magna Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Holoprosencephaly Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Hydrocephalus Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Hypotonia, unspecified Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Lissencephaly Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Macrocephaly Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Microcephaly Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Polymicrogyria Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Posterior fossa cyst Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Sacral agenesis Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Sacrococcygeal teratoma (SCT) Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Spina Bifida with hydrocephalus Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Spina Bifida without hydrocephalus Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Ventriculomegaly - Mild-Moderate (11-14.9 mm) Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Ventriculomegaly - Severe (>15 mm) Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Other - malformations of the nervous system Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Other - malformations of the brain Eye Anomalies \ Anophthalmos Eye Anomalies \ Congenital cataract Eye Anomalies \ Congenital glaucoma Eye Anomalies \ Microphthalmos Eye Anomalies \ Other - malformations of eye Ear, Face and Neck Anomalies \ Choanal atresia Ear, Face and Neck Anomalies \ Ears - Anotia Ear, Face and Neck Anomalies \ Ears - Microtia Ear, Face and Neck Anomalies \ Macroglossia Ear, Face and Neck Anomalies \ Micrognathia Ear, Face and Neck Anomalies \ Nose - Absent Ear, Face and Neck Anomalies \ Nose - Hypoplastic Ear, Face and Neck Anomalies \ Retrognathia Ear, Face and Neck Anomalies \ Other - malformations of ear Ear, Face and Neck Anomalies \ Other - malformations of the face and neck Oro-facial Clefts \ Cleft lip Oro-facial Clefts \ Cleft lip with cleft palate Oro-facial Clefts \ Cleft palate Oro-facial Clefts \ Pierre Robin Sequence Thorax Anomalies \ Bronchopulmonary sequestration (BPS) Thorax Anomalies \ Congenital high airway obstruction (CHAOS) Thorax Anomalies \ Cystic adenomatous malformation of lung (CCAM) Thorax Anomalies \ Diaphragmatic hernia (CDH) Thorax Anomalies \ Other - congenital malformations of lung Thorax Anomalies \ Other - malformations of the diaphragm Cardiovascular Anomalies \ Aortic arch - Double Cardiovascular Anomalies \ Aortic arch - Interrupted Cardiovascular Anomalies \ Aortic arch - Right Cardiovascular Anomalies \ Aortic atresia/Hypoplastic aortic arch Cardiovascular Anomalies \ Aortic valve stenosis Cardiovascular Anomalies \ Arrhythmia Cardiovascular Anomalies \ Atrial isomerism (heterotaxy) - Left Cardiovascular Anomalies \ Atrial isomerism (heterotaxy) - Right Cardiovascular Anomalies \ Atrial septal defect (ASD) Cardiovascular Anomalies \ Atrioventricular septal defect (AVSD) Cardiovascular Anomalies \ Cardiomegaly Cardiovascular Anomalies \ Coarctation of aorta Cardiovascular Anomalies \ Congenital heart block (complete and incomplete) Cardiovascular Anomalies \ Dextrocardia Cardiovascular Anomalies \ Discordant atrioventricular connection Cardiovascular Anomalies \ Double inlet ventricle (Single ventricle) Cardiovascular Anomalies \ Double outlet right ventricle (DORV) Cardiovascular Anomalies \ Ebstein anomaly Cardiovascular Anomalies \ Hypoplastic left heart (HLHS) Cardiovascular Anomalies \ Hypoplastic right heart (HRHS) Cardiovascular Anomalies \ Mitral valve atresia Cardiovascular Anomalies \ Mitral valve insufficiency Cardiovascular Anomalies \ Mitral valve stenosis Cardiovascular Anomalies \ Pericardial effusion Cardiovascular Anomalies \ Pulmonary valve atresia Cardiovascular Anomalies \ Pulmonary valve dysplasia Cardiovascular Anomalies \ Pulmonary valve stenosis Cardiovascular Anomalies \ Situs inversus (cardiac and abdominal) Cardiovascular Anomalies \ Tetralogy of Fallot (TOF) Cardiovascular Anomalies \ Total anomalous pulmonary venous connection (TAPVC)/Partial anomalous pulmonary venous connection (PAPVC) Cardiovascular Anomalies \ Transposition of great vessels (TGV) Cardiovascular Anomalies \ Tricuspid atresia/stenosis Cardiovascular Anomalies \ Tricuspid regurgitation Cardiovascular Anomalies \ Tricuspid valve dysplasia Cardiovascular Anomalies \ Truncus arteriosus (common arterial truncus) Cardiovascular Anomalies \ Vascular ring Cardiovascular Anomalies \ Vena cava, bilateral superior (SVC) Cardiovascular Anomalies \ Vena cava, interrupted inferior (IVC) Cardiovascular Anomalies \ Vena cava, persistent left superior (SVC) Cardiovascular Anomalies \ Ventricular disproportion (RV/LV discrepancy) Cardiovascular Anomalies \ Ventricular septal defect (VSD) Cardiovascular Anomalies \ Other cardiac malformations Abdominal Wall Defects \ Gastroschisis Abdominal Wall Defects \ Omphalocele (exomphalos) Abdominal Wall Defects \ Other - congenital malformations of abdominal wall Gastrointestinal & Abdominal Anomalies \ Abnormal stomach (including small/absent stomach) Gastrointestinal & Abdominal Anomalies \ Biliary atresia (atresia of bile ducts) Gastrointestinal & Abdominal Anomalies \ Bowel obstruction Gastrointestinal & Abdominal Anomalies \ Duodenal atresia/stenosis Gastrointestinal & Abdominal Anomalies \ Esophageal atresia (without fistula) Gastrointestinal & Abdominal Anomalies \ Esophageal atresia with tracheo-esophageal fistula (TEF) Gastrointestinal & Abdominal Anomalies \ Tracheoesophageal fistula (TEF) without esophageal atresia Gastrointestinal & Abdominal Anomalies \ Hirschsprung disease Gastrointestinal & Abdominal Anomalies \ Imperforate anus (congenital absence, atresia, stenosis of anus) Gastrointestinal & Abdominal Anomalies \ Large intestine atresia/stenosis Gastrointestinal & Abdominal Anomalies \ Pyloric stenosis Gastrointestinal & Abdominal Anomalies \ Rectal atresia/stenosis with/without fistula Gastrointestinal & Abdominal Anomalies \ Small bowel, abnormal Gastrointestinal & Abdominal Anomalies \ Small intestine atresia/stenosis (excluding duodenum) Gastrointestinal & Abdominal Anomalies \ Other - malformations of gastrointestinal system Urinary Anomalies \ Bladder/cloacal exstrophy Urinary Anomalies \ Congenital hydronephrosis Urinary Anomalies \ Cystic kidneys - other Urinary Anomalies \ Duplex kidney/collecting system Urinary Anomalies \ Echogenic kidney(s) Urinary Anomalies \ Ectopic/pelvic kidney Urinary Anomalies \ Lower urinary tract obstruction Urinary Anomalies \ Megacystis Urinary Anomalies \ Megaureter Urinary Anomalies \ Multicystic dysplastic kidney(s) Urinary Anomalies \ Polycystic kidney, autosomal dominant Urinary Anomalies \ Polycystic kidney, autosomal recessive Urinary Anomalies \ Posterior urethral valves (PUV) Urinary Anomalies \ Prune belly Urinary Anomalies \ Renal agenesis - bilateral Urinary Anomalies \ Renal agenesis - unilateral Urinary Anomalies \ Renal cyst Urinary Anomalies \ Renal Dysplasia Urinary Anomalies \ Ureterocoele Urinary Anomalies \ Other - malformations of the urinary system Genital Anomalies \ Ambiguous genitalia/Indeterminate sex Genital Anomalies \ Epispadias Genital Anomalies \ Hydrocoele Genital Anomalies \ Hypospadias Genital Anomalies \ Other - malformations of female genitalia Genital Anomalies \ Other - malformations of male genitalia Skeletal & Limb Anomalies \ Adactyly (absent fingers/toes) Skeletal & Limb Anomalies \ Bowed/curved long bone(s) Skeletal & Limb Anomalies \ Club foot (talipes equinovarus) - bilateral Skeletal & Limb Anomalies \ Club foot (talipes equinovarus) - unilateral Skeletal & Limb Anomalies \ Craniosynostosis Skeletal & Limb Anomalies \ Ectrodactyly (lobster-claw/cleft hand) Skeletal & Limb Anomalies \ Hypotonia, unspecified Skeletal & Limb Anomalies \ Limb reduction defect - lower limb Skeletal & Limb Anomalies \ Limb reduction defect - upper limb Skeletal & Limb Anomalies \ Limb reduction defects of unspecified limb Skeletal & Limb Anomalies \ Osteogenesis imperfecta Skeletal & Limb Anomalies \ Polydactyly - feet Skeletal & Limb Anomalies \ Polydactyly - hands Skeletal & Limb Anomalies \ Skeletal dysplasia Skeletal & Limb Anomalies \ Syndactyly - feet Skeletal & Limb Anomalies \ Syndactyly - hands Skeletal & Limb Anomalies \ Congenital malformations of the musculoskeletal system Skeletal & Limb Anomalies \ Other - malformations of the spine & bony thorax (not including spina bifida) Skeletal & Limb Anomalies \ Other - malformations of the limb(s) Other Anomalies/Patterns/Syndromes \ Congenital constriction bands/amniotic bands Other Anomalies/Patterns/Syndromes \ Intrauterine Growth Restriction (IUGR) <10th percentile Other Anomalies/Patterns/Syndromes \ Noonan syndrome/Rasopathies Other Anomalies/Patterns/Syndromes \ Oligohydramnios Other Anomalies/Patterns/Syndromes \ Pierre Robin Sequence Other Anomalies/Patterns/Syndromes \ Polyhydramnios Other Anomalies/Patterns/Syndromes \ Potter's syndrome/sequence Other Anomalies/Patterns/Syndromes \ Other - genetic syndrome Lymphatic Anomalies & Hydrops \ Cystic hygroma Lymphatic Anomalies & Hydrops \ Fetal ascites Lymphatic Anomalies & Hydrops \ Hydrops fetalis Lymphatic Anomalies & Hydrops \ Increased nuchal translucency (>= 3.5 mm) Lymphatic Anomalies & Hydrops \ Pleural effusion(s) (hydrothorax) Chromosomal Anomalies \ 22Q11.2 deletion syndrome/DiGeorge syndrome Chromosomal Anomalies \ 47, XYY Chromosomal Anomalies \ Down syndrome/Trisomy 21 Chromosomal Anomalies \ Edwards syndrome/Trisomy 18 Chromosomal Anomalies \ Klinefelter syndrome (47, XXY) Chromosomal Anomalies \ Patau syndrome/Trisomy 13 Chromosomal Anomalies \ Triple X syndrome (47, XXX) Chromosomal Anomalies \ Triploidy/polyploidy Chromosomal Anomalies \ Turner syndrome (45, X) Chromosomal Anomalies \ Chromosome abnormality - other Skin/Hair/Nails \ Congenital Ichthyosis Skin/Hair/Nails \ Cutis Aplasia Skin/Hair/Nails \ Epidermolysis Bullosa Skin/Hair/Nails \ Other - congenital malformations of skin Skin/Hair/Nails \ Other - congenital malformations of hair Skin/Hair/Nails \ Other - congenital malformations of nails Twins \ Acardiac Twin (TRAP Sequence) Twins \ Conjoined twins Twins \ Selective Intrauterine Growth Restriction (sIUGR) Twins \ Twin anemia polycythemia (TAPS) Twins \ Twin-twin transfusion syndrome (TTTS) Twins \ Other - malformation(s) of twins Other/Unknown \ Unknown Other/Unknown \ Other Congenital Malformations, Not Elsewhere Classified
GMFM007OTH	Other Anomaly, specify:	Genetics/MFM
Data Definition: BORN recognizes that the picklist values provided for the "Fetal Anomalies" field may not be exhaustive as the Genetics/MFM encounter is a new dataset for BORN. Any values provided in this field will be considered as possible additions or clarifications in future enhancements and will allow users to document accurately. Please note that this field is temporary and that data here will not be used in BORN reports. If you have any questions or concerns, please let us know. Pick List Value:
GMFM008	Did the patient have invasive/prenatal diagnostic testing?	Genetics/MFM
Data Definition: Invasive/prenatal diagnostic (amniocentesis, chorionic villus sampling (CVS), cordocentesis) performed in the pregnancy to obtain a fetal blood, tissue, or amniotic fluid sample to assess the fetal chromosomes and/or genes. Pick List Value:
GMFM009	Diagnostic testing result:	Genetics/MFM
Data Definition: Specify if diagnostic testing was done and if a normal or abnormal test result was obtained. If abnormal result is selected, an additional picklist will open allowing for more detailed information to be entered. Pick List Value: Normal result Abnormal result Unknown
GMFM010	Abnormal finding	Genetics/MFM
Data Definition: Abnormal finding - specify the type of test result obtained: aneuploidy - extra or missing copies of whole chromosomes (trisomy or monosomy); microarray finding - missing or extra genetic material (microdeletions, microduplications, variant of unknown significance); molecular finding - single gene testing result (pathogenic variant in a single gene (cystic fibrosis, spinal muscular atrophy etc.). Pick List Value: Aneuploidy Microarray finding Molecular finding Other non-genetic Unknown
GMFM011	Was a whole exome sequencing test requested or performed?	Genetics/MFM
Data Definition: Indicate if a whole exome sequencing test used to interrogate an individual’s entire coding region in their DNA was performed or ministry funding was requested. Test could be done on the current pregnancy using a fetal sample from an invasive procedure (i.e. Chorionic villus sampling (CVS) or amniocentesis), or on a previous pregnancy loss/stillbirth or a living/deceased sibling to the pregnancy. This question is specifically looking to capture all whole exome sequencing tests that were expedited (rushed/stat) due to the current pregnancy. Pick List Value: No – did not request funding No – MOHLTC declined funding request Yes – on current fetus Yes – on previous pregnancy loss/stillbirth Yes – on living/deceased sibling Unknown
GMFM012	Were variants identified in known disease gene?	Genetics/MFM
Data Definition: Specify the test results obtained from the rapid whole exome sequencing test that are medically relevant . These medically relevant test results include variants (pathogenic, likely pathogenic, variant of unknown significance) in a gene known to cause disease and expected to be related to the reason for the clinical findings as well as medically relevant variants in disease genes that are expected to cause significant disorders in childhood. Pick List Value: Yes - pathogenic variant Yes - likely pathogenic variant Maybe - variant of unknown significance No - negative test result Unknown
GMFM013	Were variants identified in genes possibly associated with the disease phenotype?	Genetics/MFM
Data Definition: Specify the test results obtained from the rapid whole exome sequencing test that are potentially related to the clinical findings. These test results could include variants (pathogenic, likely pathogenic, variant of unknown significance) in disease genes that are possibly associated with the prenatal indications as well as single pathogenic variants in autosomal recessive genes. Pick List Value: Yes - pathogenic variant Yes - likely pathogenic variant Maybe - variant of unknown significance No - negative test result Unknown
GMFM014	Were variants identified in candidate (novel) genes with a potential relationship to a disease phenotype?	Genetics/MFM
Data Definition: Specify the test results obtained from the rapid whole exome sequencing test that are found in genes of unknown clinical significance. Variants identified in these candidate genes are classified and reported as variants of unknown significance. Pick List Value: Yes No – No variants found No – Not an option on the exome test ordered Unknown
GMFM015	Was a secondary finding identified?	Genetics/MFM
Data Definition: Specify if a finding unrelated to the indication for testing was identified (i.e. carrier status, risk of adult onset condition). These results may have potential health and reproductive implications. Pick List Value: Yes No – Not found No – Opted-out Unknown
GMFM016	What was the turnaround time?	Genetics/MFM
Data Definition: Indicate the length of time it took for the laboratory to issue a written test result report. Length of time can be estimated from the time the sample was sent to the lab performing the whole exome sequencing until the time the written report was received. (cell culture times to be excluded from this time estimate). Pick List Value: Up to 1 week 1-2 weeks 2-4 weeks 4-6 weeks >6 weeks Unknown
GMFM017	Was additional molecular testing previously ordered in this pregnancy?	Genetics/MFM
Data Definition: Previous molecular testing done prior to WES on the current pregnancy, a previous pregnancy/stillbirth, or on a living/deceased child that was done as a single gene test or testing for multiple genes through a panel test. Pick List Value: Yes – One test (would include a panel) Yes - More than one test (multiple panels or single gene tests) No Unknown
GMFM018	Pregnancy status at conclusion of care	Genetics/MFM
Data Definition: Indicates the actual plan or outcome for the pregnancy, including live births, stillbirths, terminations, losses and selective reductions. Pick List Value: Pregnancy continued Fetal demise in multiple gestation Selective reduction in multiple gestation Termination of pregnancy >= 20 weeks gestation Termination of pregnancy < 20 weeks gestation Spontaneous Stillbirth/IUFD >= 20 weeks gestation Spontaneous Miscarriage < 20 weeks gestation Unknown/Lost to follow-up
GMFM021	Type of Specialty Clinic Entering Data	Genetics/MFM
Data Definition: Type of Specialty Clinic Entering Data Pick List Value: Genetics Maternal Fetal Medicine (MFM)
GMFM022	First Abnormal US Date	Genetics/MFM
Data Definition: Date of first ultrasound done in the pregnancy where a potential concern was found (eg. increased nuchal translucency, soft markers, congenital anomaly(ies) etc.). The first abnormal ultrasound may have been performed at a community ultrasound clinic or at a tertiary care centre. Pick List Value:
GMFM023	What was the requested turnaround time for prenatal WES?	Genetics/MFM
Data Definition: What was the requested turnaround time for prenatal whole exome sequence test? Pick List Value: Urgent/Semi-urgent Non-urgent Other/unknown
GMFM024	Did the results explain the disease phenotype?	Genetics/MFM
Data Definition: Did the results explain the disease phenotype? Pick List Value: Completely Partially Not at all Unknown
GMFM025	Name of condition/disease associated with the variant	Genetics/MFM
Data Definition: Name of condition/disease associated with the variant Pick List Value:
GMFM026	Name of gene the variant was identified in	Genetics/MFM
Data Definition: Name of gene the variant was identified in Pick List Value:
GMFM027	WES results used for pregnancy management	Genetics/MFM
Data Definition: Did the patient and/or clinical team use the results to guide prenatal medical management of pregnancy (e.g. change in surveillance, fetal surgery, imaging or termination)? Pick List Value:
GMFM028	WES results used for postnatal management	Genetics/MFM
Data Definition: Were the exome results primarily intended for guiding postnatal medical management of the neonate? Pick List Value:
PNFU0080-1	Soft markers of ultrasound	Genetics/MFM
Data Definition: Variants of normal development detected by obstetrical ultrasound at specific periods during gestation which may increase the risk of a fetal anomaly and / or adverse obstetrical outcome Pick List Value: Anhydramnios Brachycephaly Choroid plexus cysts Clinodactyly Cystic hygroma Ductus venosus blood flow Echogenic yolk sac Enlarged cisterna magna Frontomaxillary facial angle Hydronephrosis Hyperechogenic bowel Iliac angle Intracardiac echogenic focus / focii Intrauterine growth retardation Nasal bone, absent Nasal bone, hypoplastic Nuchal fold / edema, increased Nuchal translucency, increased Oligohydramnios Pericardial effusion Placental thickness Pleural effusion Polyhydramnios Renal pelves Pyelectasis Sandal gap Short femur Short humerus Small ear length Tricuspid valve regurgitation Two vessel cord / single umbilical artery Umbilical cord cyst Uterine artery notching Ventriculomegaly
PNFU0080-2	Soft markers of ultrasound (level 2)	Genetics/MFM
Data Definition: The detailed description of the soft marker or obstetrical ultrasound finding where available Pick List Value: Mild Moderate Severe Septated Not septated Normal Abnormal (reversed) Not otherwise specified Biventricular L ventricle R ventricle L atrium R atrium Single Multiple Grade I (less bright than bone) Grade II (as bright as bone) Grade III (brighter than bone) Right Left Bilateral Unilateral Right artery absent Left artery absent Symmetrical Asymmetrical N/a Unknown
PNFU0080-3	Soft markers of ultrasound Measurement Name	Genetics/MFM
Data Definition: Name of the soft marker or obstetrical imaging finding Pick List Value: Right Dimension (mm) Left Dimension (mm) Measurement (mm) Right Measurement (mm) Left Measurement (mm) HC Percentile BPD Percentile AC Percentile FL Percentile AFI (amniotic fluid index) Right Percentile Left Percentile Degree of Angle NT MoM Delta NT
PNFU0080-4	Soft markers of ultrasound Measurement Value	Genetics/MFM
Data Definition: Measurement of the soft marker or obstetrical imaging finding Pick List Value:
PS0011	Fetus ID	CARTRPLUS Cycle, Genetics/MFM, Labour & Birth Mother, PSP Screen
BORN collects this variable but due to personal health information (PHI) or sensitivity it is not available for data request. Data Definition: Fetal ID of a multiple pregnancy Pick List Value: Fetus A Fetus B Fetus C Fetus D Fetus E Fetus F Fetus G Fetus H Fetus I Fetus J

Genetics/MFM

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