Category Archives: ABC’s
- 11q23 Deletion Syndrome (Jacobsen Syndrome)
- 1p36 Deletion Syndrome
- 22q11.2 Deletion Syndrome (DiGeorge Syndrome)
- 45,X (Turner Syndrome)
- 47,XXX (Trisomy X Syndrome)
- 47,XXY (Klinefelter Syndrome)
- 47,XYY Syndrome
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- ABC’s of Prenatal Diagnosis – Book Chapter Headings
- ACOG 2017 Pre Pregnancy Genetic Screening Guideline – “Offer All Women…Consider Partners As Well”
- ACOG Guidelines
- Adrenoleukodystrophy (ALD)
- Agenesis of the Corpus Callosum (ACC)
- Aging, Dementia & The Need For Compassion!
- Alpha Thalassemia
- Alzheimer’s & Dementia
- American College of OB/GYN (ACOG) Update 2017 – “Offer All Women Pre Pregnancy Genetic Screening”
- Amniocentesis & Chorionic Villus Sampling (CVS) Obsolete?
- Amniocentesis & Microdeletions: Opt In or Opt Out?
- Angelman Syndrome (15q21)
- Angioedema
- Ankylosing Spondylitis
- Anticipation of Disease
- Ashkenazi Jewish Genetic Diseases
- Ashkenazi Jewish Genetic Diseases – Bloom Syndrome
- Ashkenazi Jewish Genetic Diseases – Canavan Disease
- Ashkenazi Jewish Genetic Diseases – Cystic Fibrosis
- Ashkenazi Jewish Genetic Diseases – Dihydrolipoamide Dehydrogenase Deficiency (DLD)
- Ashkenazi Jewish Genetic Diseases – Familial Dysautonomia
- Ashkenazi Jewish Genetic Diseases – Familial Hyperinsulinism
- Ashkenazi Jewish Genetic Diseases – Fanconi Anemia
- Ashkenazi Jewish Genetic Diseases – Gaucher Disease
- Ashkenazi Jewish Genetic Diseases – Glycogen Storage Disease Type 1A
- Ashkenazi Jewish Genetic Diseases – Joubert Syndrome Type 2
- Ashkenazi Jewish Genetic Diseases – Lipoamide Dehydrogenase Deficiency E3
- Ashkenazi Jewish Genetic Diseases – Maple Syrup Urine Disease (MSUD)
- Ashkenazi Jewish Genetic Diseases – Mucolipidosis Type IV
- Ashkenazi Jewish Genetic Diseases – Nemaline Myopathy 2
- Ashkenazi Jewish Genetic Diseases – Niemann Pick Disease Types A & B
- Ashkenazi Jewish Genetic Diseases – Spinal Muscular Atrophy (SMA)
- Ashkenazi Jewish Genetic Diseases – Tay Sachs Disease
- Ashkenazi Jewish Genetic Diseases – Thrombocytopenia Amegakaryocytic (Congenital)
- Ashkenazi Jewish Genetic Diseases – Usher Syndrome Type 1 & 2
- Ashkenazi Jewish Genetic Diseases – Walker Warburg Syndrome
- Asperger Syndrome
- Asthma & Pregnancy – By Sanford E. Avner, M.D., FABAAI, FAAP, FAAAAI, FACAAI
- Autism – Angelman Syndrome
- Autism – Asperger Syndrome
- Autism – Childhood Disintegrative Disorder
- Autism – Chromosomal Abnormalities
- Autism – Chromosomal Microarray
- Autism – Escalante Syndrome
- Autism – Fragile X Syndrome
- Autism – Landau Kleffner Syndrome (LKS)
- Autism – Patterns & Types Chart
- Autism – Pervasive Developmental Delay (PDD)
- Autism – Phelan McDermid Syndrome
- Autism – Prader Willi Syndrome
- Autism – Spectrum Disorders
- Autism – Tardive Dyskinesia Syndrome
- Autism – Tuberous Sclerosis
- Autism – Williams Syndrome
- Autism & Autism Spectrum Disorders – Are We Close To A Cause?
- Autism Spectrum Disorders – Brugada Syndrome
- Autism Spectrum Disorders – Chromosomal Abnormalities
- Autism Spectrum Disorders – Chromosomal Microarray
- Autism Spectrum Disorders – Cortical Dysplasia Focal Epilepsy Syndrome
- Autism Spectrum Disorders – Creatine Deficiency
- Autism Spectrum Disorders – Cushing Syndrome
- Autism Spectrum Disorders – Dandy Walker Syndrome
- Autism Spectrum Disorders – Fried Syndrome
- Autism Spectrum Disorders – Guanidinoacetate Methyltransferase Deficiency
- Autism Spectrum Disorders – Hamartoma Tumor Syndromes
- Autism Spectrum Disorders – Joubert Syndrome
- Autism Spectrum Disorders – Lymphangioleiomyomatosis
- Autism Spectrum Disorders – Neurofibromatosis
- Autism Spectrum Disorders – Noonan Syndrome
- Autism Spectrum Disorders – Ornithine Transcarbamylase Deficiency (OTC)
- Autism Spectrum Disorders – Pigmented Nodular Adrenocortical Disease
- Autism Spectrum Disorders – PTEN Tumor Syndromes
- Autism Spectrum Disorders – Rett Syndrome
- Autism Spectrum Disorders – Simpson Golabi Behmel Syndrome (SGBS)
- Autism Spectrum Disorders – Smith Lemli Opitz Syndrome
- Autism Spectrum Disorders – Sotos Syndrome
- Autism Spectrum Disorders – Timothy Syndrome
- Autism Spectrum Disorders – Variable Without Specific Title
- Autism Spectrum Disorders – Weaver Syndrome
- Autism Spectrum Disorders – With Macrocephaly
- Autism, Autism Spectrum Disorders, Developmental & Intellectual Disabilities Consult Forms
- Autosomal Recessive Polycystic Kidney Disease (ARPKD)
- Azoospermia/Oligospermia
- Bardet Biedl Syndrome
- Beckwith Wiedemann Syndrome
- Beta Glucuronidase Deficiency
- Beta Thalassemia
- Bloom Syndrome
- Breakthrough Technologies vs Standard of Care
- Breast Cancer Gene Testing vs Multi-Cancer Panel Testing
- Breast Cancer Risk Factors & Screening
- Brugada Syndrome
- C-Section Previously & Chance for Vaginal Birth (VBAC)
- Can A Parent Test A Minor Child For Any & All Diseases Without Her/His Consent?
- Canavan Disease
- Cancer – Breast (Familial or Non-Familial)
- Cancer – Breast (Risk Factors & Screening)
- Cancer – Cervical
- Cancer – Colon (Colorectal)
- Cancer – Ewing’s Sarcoma
- Cancer – Familial Predisposition
- Cancer – Hereditary Non Polyposis Colon Cancer (HNPCC)
- Cancer – HPV (Human Papilloma Virus)
- Cancer – Lung
- Cancer – Ovarian
- Cancer – Pancreatic
- Cancer – Pregnancy
- Cancer – Prostate
- Cancer – Retinoblastoma
- Cancer – Uterine
- Celiac Disease
- Celiac Disease & Recurrent Pregnancy Loss
- Cervical Cancer
- Charcot Marie Tooth
- Childhood Disintegrative Disorder
- Chorionic Villus Sampling (CVS) & Amniocentesis Obsolete
- Choroid Plexus Cyst(s)
- Chromosomal Abnormalities Associated With Autism & Autism Spectrum Disorders
- Chromosomal Microarray
- Chromosomal Microarray – Autism & Autism Spectrum Disorders (ASD)
- Chromosome Inversions, Prominent Satellites & Non-Dysjunction
- Chromosome Non-Dysjunction
- Chromosome Satellites
- Cohen Syndrome
- Colon (Colorectal) Cancer
- Color Blindness
- Congenital Adrenal Hyperplasia (CAH)
- Consanguinity
- Cooley’s Anemia
- Cortical Dysplasia Focal Epilepsy Syndrome
- Creatine Deficiency
- Creutzfeldt-Jakob Disease
- Cri Du Chat Syndrome (5p- Syndrome)
- CRISPR Could Correct Majority of Duchenne Muscular Dystrophy Mutations
- Cushing Syndrome
- CVS & Placental Mosaicism
- Cystic Fibrosis
- Cystic Fibrosis Screening if Ethnic Background is Unknown
- Daltonism
- Dandy Walker Syndrome
- Deafness – Treacher Collins
- Deafness – Usher Syndrome Type 1, 2, 3
- Dementia
- Dementia – Aging & The Need For Compassion!
- Dementia – Alzheimer’s
- Dementia – Creutzfeldt Jakob
- Dementia – Down Syndrome
- Dementia – Fronto Temporal
- Dementia – Huntington’s Disease
- Dementia – Lewy Body
- Dementia – Parkinson’s Disease
- Dementia – Patterns & Types Chart
- Dementia – Vascular
- Dementia – Wernicke Korsakoff Syndrome
- Developmental & Intellectual Disabilities – Chromosomal Microarray
- Diabetes – Gestational
- Diabetes & Pregnancy
- DiGeorge Syndrome (22q11.2 Deletion Syndrome)
- Dihydrolipoamide Dehydrogenase Deficiency (DLD)
- Disease “Anticipation”
- Disease Complexity
- Distal Arthrogryposis
- Down Syndrome (Trisomy 21) & Pregnancy Ultrasound “Markers”
- Down Syndrome Dementia
- Dr. Wexler Talks
- Dr. Wexler Thank You
- Duchenne Muscular Dystrophy (DMD)
- Dwarfism (Fatal) vs “Short Stature” Ultrasound Markers
- Early Infantile Encephalopathy with Epilepsy (EIEE)
- Echogenic Intracardiac Focus (EIF)
- Ectrodactyly
- Edward Syndrome (Trisomy 18) & Pregnancy Ultrasound Markers
- Ehlers-Danlos Syndrome Type III
- Epilepsy
- Epilepsy – Early Infantile Encephalopathy (EIEE)
- Epilepsy Syndromes – Landau Kleffner Syndrome (LKS)
- Escalante Syndrome
- Ethics – Can A Patient Make An Informed Decision When Medical Information is Withheld?
- Ethics – Does a Parent Have a Right To Test a Child for Any & All Diseases?
- Ethnicity Screening vs Expanded Carrier Screening- Landmark Study of 346,790 Patients
- Ethnicity Unknown – Universal Carrier Screening
- Ewing’s Sarcoma
- Fabry Disease
- Factor XI Deficiency
- Familial Dysautonomia
- Familial Hyperinsulinism
- Fanconi Anemia
- Fatal Dwarfism vs “Short Stature”
- Fetal Echocardiogram Ultrasound
- Fetal Lung Masses on Fetal Echocardiogram – A Case Study
- FG Syndrome
- First Trimester Aneuploidy Screening “Markers” Part 1
- First Trimester Aneuploidy Screening “Markers” Part 2
- Fragile X – Autism
- Fragile X Carrier Screening – Should It Be Routine in Pregnancy?
- Freeman-Sheldon Syndrome
- Fried Syndrome
- Fronto-Temporal Dementia
- Gaucher Disease
- GENASSIST Linear Profile
- GENASSIST Linear Profile Autism & ASD
- GENASSIST Linear Profile Cancer
- GENASSIST Linear Profile Pediatrics
- GENASSIST Linear Profile Rare Genetic Diseases
- Gestational Diabetes
- Glycogen Storage Disease Type 1A
- Guanidinoacetate Methyltransferase Deficiency
- Hamartoma (PTEN) Tumor Syndromes
- Hashimoto’s Thyroiditis
- Heart-Hand Syndrome
- Hemochromatosis
- Hemoglobin Bart Syndrome
- Hemophilia A, B & C
- Hereditary Angioedema
- Hereditary Non Polyposis Colon Cancer (HNPCC)
- Heterotrisomy
- High Risk Test Results Have to Be Wrong!
- Holt-Oram Syndrome
- Homotrisomy
- HPV (Human Papilloma Virus) & Cancer
- Huntington Disease Dementia
- Hydronephrosis & Pyelectasis in Pregnancy
- I Have “Low Risk” Maternal Fetal DNA, Why Do I Need a 1st Trimester Ultrasound?
- I Was Young Until I Got Pregnant, Then…
- Infertility – Pseudoxanthoma Elasticum (PXE)
- Informed Consent – Can A Patient Truly Make an Informed Decision When Medical Information is Withheld?
- Inheritance Patterns
- Is It Ever Too Early To Start Planning For A Pregnancy?
- Jacobsen Syndrome (11q23 Deletion Syndrome)
- Joubert Syndrome
- Klinefelter Syndrome (47,XXY)
- Lactic Acidosis
- Landau Kleffner Syndrome (LKS)
- Langer-Giedion Syndrome (8q24.1)
- Lennox Gaustat Syndrome
- Leri-Weil Dyschondrosteosis
- Level II Ultrasound
- Lewy Body Dementia
- Linear Profile Form
- LINKS – RESOURCES
- Lipoamide Dehydrogenase Deficiency E3
- Lung Cancer
- Lymphangioleiomyomatosis
- Macrocephaly with Autism Spectrum Disorders
- Mandibulofacial Dystosis
- Maple Syrup Urine Disease (MSUD)
- Marfan Syndrome
- Maternal Age & Paternal Age in Pregnancy
- Maternal Fetal DNA – A “No Result” is a Pregnancy Marker!
- Maternal Fetal DNA “Low Risk”, Why Do I Still Need a First Trimester Ultrasound?
- Maternal Fetal DNA Microdeletions: Is The Cost & Reliability Justified?
- Maternal Fetal DNA Missed My Baby’s Trisomy 15
- MCAD
- Medium Chain ActylCoA Dehydrogenase Deficiency (MCAD)
- Microarray Eclipses Traditional “Ethnicity” Screening
- Microarray Helps Detect Rare Disease (Joubert Syndrome)
- Microarray on Products of Conception (POC’s) – The New Standard
- Microdeletions – 1p36 Deletion Syndrome
- Microdeletions – Angelman Syndrome (15q21)
- Microdeletions – Cri Du Chat Syndrome (5p- Syndrome)
- Microdeletions – DiGeorge Syndrome (22q11.2 Deletion Syndrome)
- Microdeletions – Jacobsen Syndrome (11q23 Deletion Syndrome)
- Microdeletions – Langer-Giedion Syndrome (8q24.1)
- Microdeletions – Prader-Willi Syndrome (15q11-13)
- Microdeletions – Wolf-Hirschhorn Syndrome (4p-)
- Microdeletions Are Not Autosomal Recessive!
- Miscarriage & Chromosomal Abnormalities (500 Case Study)
- MTHFR & Recurrent Pregnancy Loss
- Mucolipidosis Type IV
- Mucopolysaccharidosis
- Multiple Sclerosis (MS)
- Muscular Dystrophy – Adrenoleukodystrophy
- Muscular Dystrophy – Charcot Marie Tooth
- Muscular Dystrophy – Duchenne
- Muscular Dystrophy – Myotonic
- Mutation Types
- Myotonic Dystrophy
- Nemaline Myopathy 2
- Neonatology – Agenesis of the Corpus Callosum (ACC)
- Neonatology – Chromosome Testing vs Exome Testing
- Neonatology – Early Infantile Encephalopathy with Epilepsy (EIEE)
- Neonatology – Left Bronchopulmonary Sequestration with a Pleural Effusion
- Nephroblastoma – Wilms Tumor
- Neurofibromatosis
- Neurofibromatosis – Autism Spectrum Disorders
- Neurofibromatosis in a Newborn
- New Patient Forms
- Niemann-Pick Disease Types A & B
- NIPT Microdeletions – Jacobsen Syndrome (11q23 Syndrome)
- Non Invasive Prenatal Testing [NIPT] Timeline & Reliability
- Non-Dysjunction
- Noonan Syndrome
- Nuchal Translucency (NT) & Chromosomal Abnormalities in Pregnancy
- Oligospermia/Azoospermia
- Ornithine Transcarbamylase Deficiency (OTC)
- Ovarian Cancer Risk Factors & Screening
- Pancreatic Cancer
- Panels, Panels Everywhere But…
- Parkinson’s Disease
- Patau Syndrome (Trisomy 13) & Pregnancy Ultrasound Markers
- Paternal Age & Maternal Age in Pregnancy
- Pepper Syndrome
- Pervasive Developmental Delay (PDD)
- Phelan McDermid Syndrome
- Pierre Robin Syndrome
- Pigmented Nodular Adrenocortical Disease
- Placental Mosaicism & Chorionic Villus Sampling (CVS)
- Polycystic Kidney Disease (PKD)
- Polycystic Ovarian Syndrome (PCOS)
- Polymorphisms – Inversions, Satellites & Non-Dysjunction
- Post Dates Ultrasound
- Prader Willi Syndrome (15q11-13)
- Pre Pregnancy Genetic Screening – Bloom Syndrome
- Pre Pregnancy Genetic Screening – Canavan Disease
- Pre Pregnancy Genetic Screening – Cystic Fibrosis
- Pre Pregnancy Genetic Screening – Dihydrolipoamide Dehydrogenase Deficiency (DLD)
- Pre Pregnancy Genetic Screening – Familial Dysautonomia
- Pre Pregnancy Genetic Screening – Familial Hyperinsulinism
- Pre Pregnancy Genetic Screening – Fanconi Anemia
- Pre Pregnancy Genetic Screening – Gaucher Disease
- Pre Pregnancy Genetic Screening – Glycogen Storage Disease Type 1A
- Pre Pregnancy Genetic Screening – Joubert II Syndrome
- Pre Pregnancy Genetic Screening – Lipoamide Dehydrogenase Deficiency E3
- Pre Pregnancy Genetic Screening – Maple Syrup Urine Disease (MSUD)
- Pre Pregnancy Genetic Screening – Mucolipidosis Type IV
- Pre Pregnancy Genetic Screening – Nemaline Myopathy 2
- Pre Pregnancy Genetic Screening – Niemann Pick Types A & B
- Pre Pregnancy Genetic Screening – Spinal Muscular Atrophy (SMA)
- Pre Pregnancy Genetic Screening – Tay Sachs
- Pre Pregnancy Genetic Screening – Thrombocytopenia (Amegakaryocytic)
- Pre Pregnancy Genetic Screening – Usher Syndrome
- Pre Pregnancy Genetic Screening – Walker Warburg Syndrome
- Pre Pregnancy Genetic Screening (Offer All Women) – ACOG Update 2017
- Pre-Pregnancy Planning (90 Day Checklist)
- Pregnancy & Asthma
- Pregnancy & Cancer
- Prenatal Testing Cheat Sheet
- Prostate Cancer
- Protanopia
- Pseudoxanthoma Elasticum (PXE)
- Pyelectasis in Pregnancy
- Question: Is a “No Result” On Maternal Fetal DNA a “High Risk” Marker?
- Race/Ethnicity Screening Outdated?
- Rare Genetic Diseases
- Rare Genetic Diseases – Ectrodactyly
- Rare Genetic Diseases – Fried Syndrome
- Rare Genetic Diseases – MCAD
- Rare Genetic Diseases – STXBP1 Gene Mutations
- Recurrent Pregnancy Loss & Celiac Disease
- Recurrent Pregnancy Loss & MTHFR
- Reiter’s Syndrome
- Reproductive Medicine – 22q11.2 Deletion Syndrome (DiGeorge Syndrome)
- Reproductive Medicine – Azoospermia & Oligospermia
- Reproductive Medicine – Canavan Disease
- Reproductive Medicine – Charcot Marie Tooth
- Reproductive Medicine – Chromosomal Microarray Analysis on Products of Conception
- Reproductive Medicine – First Trimester Aneuploidy Screening – Part 1
- Reproductive Medicine – First Trimester Aneuploidy Screening – Part 2
- Reproductive Medicine – Is It Ever Too Early To Start Planning a Pregnancy?
- Reproductive Medicine – Paternal Age & Maternal Age
- Reproductive Medicine – Patient Confusion Over Who Should Be Screened Before Pregnancy?
- Reproductive Medicine – Pierre Robin Syndrome
- Reproductive Medicine – Statistical Probability Dilemmas
- Reproductive Medicine – Universal Screening vs Ethnic Screening
- Reproductive Medicine – Viability Ultrasound
- Reproductive Medicine – West Nile & Zika
- Reproductive Medicine – When Do Breakthrough Technologies Become Standards of Care?
- Reproductive Medicine – Y Chromosome Genetic Diseases
- Retinoblastoma
- Retirement vs Why I Continue To Work
- Rett Syndrome
- Russell Silver Syndrome
- Seizures (Epilepsy)
- Sequencing Solutions – FG Syndrome
- Sex Chromosome Aneuploidy (45X, 47XXX, 47XXY, 47XYY)
- Short Stature Ultrasound Markers vs Fatal Dwarfism
- Simpson Golabi Behmel Syndrome (SGBS)
- Single Umbilical Artery (Two Vessel Cord)
- Sly Syndrome
- SMA (Spinal Muscular Atrophy)
- Smith Lemli Opitz Syndrome
- Sotos Syndrome
- Spinal Muscular Atrophy (SMA)
- Split Hand Split Foot Malformations (SHFM)
- Tardive Dyskinesia Syndrome
- Tay Sachs Disease
- Thalassemia (Thalassaemia)
- Thanatophoric Dysplasia
- Thrombocytopenia Amegakaryocytic (Congenital)
- Thyroiditis
- Timothy Syndrome
- Treacher Collins
- Trichorhinophalangeal Syndrome Type 2 (8q24.1)
- Trinucleotide Repeat Disorders
- Trisomy 13 (Patau Syndrome)
- Trisomy 16 Syndrome
- Trisomy 18 (Edward Syndrome)
- Trisomy 21 (Down Syndrome)
- Trisomy 22 Syndrome
- Trisomy 9 Syndrome
- Trisomy X Syndrome (47,XXX)
- Tritanopia
- Tuberous Sclerosis
- Turner Syndrome (45,X) & Ultrasound “Markers”
- Ultrasound – Approximate First Trimester Landmarks
- Ultrasound – Fetal Echocardiogram
- Ultrasound – First Trimester Aneuploidy Screening
- Ultrasound – Level II
- Ultrasound – Polycystic Kidneys
- Ultrasound – Post Dates
- Ultrasound – Viability
- Ultrasound (GYN) – Polycystic Kidney Disease
- Ultrasound (GYN) – Polycystic Ovaries
- Ultrasound After a Previous C-Section For a Possible Vaginal Birth Delivery (VBAC)
- Ultrasound Markers – Choroid Plexus Cyst(s)
- Ultrasound Markers – Down Syndrome
- Ultrasound Markers – Echogenic Intracardiac Focus (EIF)
- Ultrasound Markers – Edward Syndrome
- Ultrasound Markers – Fetal Lung Masses
- Ultrasound Markers – First Trimester Aneuploidy Screening Part 1
- Ultrasound Markers – First Trimester Aneuploidy Screening Part 2
- Ultrasound Markers – Hydronephrosis & Pyelectasis
- Ultrasound Markers – Patau Syndrome
- Ultrasound Markers – Single Umbilical Artery (Two Vessel Cord)
- Ultrasound Markers – Trisomy 13
- Ultrasound Markers – Trisomy 18
- Ultrasound Markers – Trisomy 21
- Ultrasound Markers – Turner Syndrome
- Ultrasound Safety in Pregnancy
- Universal Carrier Screening vs “Ethnicity” Carrier Screening – Landmark Study of 346,790 Patients
- Upcoming Events
- Usher Syndrome
- Uterine Cancer
- Vaginal Birth After Cesarian (VBAC)
- Vascular Dementia
- Viability Ultrasound in Pregnancy
- Von Willebrand Disease
- Walker-Warburg Syndrome
- Weaver Syndrome
- Werner Syndrome
- Wernicke-Korsakoff Syndrome Dementia
- West Nile & Zika in Pregnancy
- When Patients Refuse To Discuss Abnormal Findings
- Whistling Face Syndrome
- Why Are Pregnant Mothers Considered “Old” At Age 35?
- Why Do I Need a First Trimester Ultrasound When I Had a “Low Risk” Maternal Fetal DNA?
- Williams Syndrome
- Wilms Tumor
- Wilson Disease
- Wolf-Hirschhorn Syndrome (4p-)
- X Chromosome Loss – Turner Syndrome (45,X)
- X-Linked Intellectual Disability (XLID)
- Y Chromosome Genetic Diseases
- Your Baby is Affected, 99% Detection Means Very Little
- Zellwegers Syndrome
- Zeroing in on Rare Disease Detection – A Case Study
- Zika & West Nile
