Karyotype

“A karyotype is an individual’s complete set of chromosomes. The term also refers to a laboratory-produced image of a person’s chromosomes isolated from an individual cell and arranged in numerical order. A karyotype may be used to look for abnormalities in chromosome number or structure.” Read More

Source

We will be adding more information in the future. Have questions or looking for guidance regarding a life-limiting diagnosis? Contact us here.

Glossary Quick Search

Acardiac Twin
Achondrogenesis
Acrania
Agenesis of the Corpus Callosum
Amelia
Amniocentesis
Amniotic Band Syndrome
Anembryonic Pregnancy
Anencephaly
Aneuploidy
Aneuploidy Screening
Anhydramnios
Antenatal Surveillance
Aqueductal Stenosis
Arthrogryposis
Asphyxiating Thoracic Dystrophy (ATD)
Atelosteogenesis Type 2
Atrial Septal Defect
Autosomal Recessive
Autosomal Dominant
Atrioventricular Septal Defect (AVSD)

Bladder Extrophy
Bladder Outlet Obstruction
Body Stalk Anomaly

Camptomelic Dysplasia
Cardiac Rhabdomyoma
Carrier Screening
Caudal Regression Syndrome
Cell Free DNA
Chiari Malformation
Chloacal Anomaly
Chorionic Villus Sampling (CVS)
Choroid Plexus Cyst
Chromosomal Deletion
Chromosomal Duplication
Chromosomal Translocation
Chromosomes
Cleft Lip
Cleft Palate
Comfort Care
Congenital
Congenital Chylothorax
Congenital Heart Defect
Congenital High Airway Obstruction Syndrome (CHAOS)
Congenital Scoliosis
Craniopagus Conjoined Twins
Criss-Cross Heart
Cyanotic Heart Disease
Cystic Hygroma
Cytomegalovirus (CMV)

Dandy Walker Malformation and Variant
Diaphragmatic Hernia
Double Outlet Right Ventricle
Dysplastic Kidney

Ebstein Anomaly
Echogenic Intracardiac Focus (EIF)
Ectopia Cordis
Ellis-Van Creveld Syndrome
Encephalocele
Epignathus Teratoma
Ex Utero Intrapartum Treatment (EXIT Procedure)

Fetal Akinesia Deformation Sequence (FADS)
Fetal Anomaly
Fraser Syndrome
Fryns Syndrome

Gastroschisis
Genetic Counseling

Holoprosencephaly
Hydranencephaly
Hydrocephalus
Hydrops Fetalis
Hypoplastic Left Heart (HLH)

Iniencephaly
Intrauterine Fetal Demise
Intrauterine Fetal Growth Restriction (IUGR)
Intrauterine Fetal Shunt
Intrauterine Fetal Surgery
Intrauterine Fetal Transfusion

Jeune Syndrome

Karyotype
Klippel-Feil Syndrome (KFS)

Lethal Chromosomal Aneuploidy
Lethal Congenital Contracture Syndrome 1 (LCCS)
Limb Body Wall

Magnetic Resonance Imaging (MRI)
Maternal Age-Related Risk
Maternal Serum Screening
Meckel-Gruber Syndrome
Meningomyelocele
Microarray (CMA)
Microcephaly
Micrognathia
Micromelia
Mirror Syndrome
Miscarriage
Molar Pregnancy
Monosomy X
Mortality Rate
Multicystic Dysplastic Kidney
Myelomeningocele

Neonatal Period
Neural Tube Defect
Non Invasive Prenatal Screening (NIPT)
Non Invasive Prenatal Testing (NIPT)
Nonviable Pregnancy
Nuchal Fold Thickening
Nuchal Translucency (NT)

Oligohydramnios
Omphalocele
Omphalocele Exstrophy-Imperforate Anus-Spinal Defect Complex (OEIS)
Osteogenesis Imperfecta
Omphalopagus Conjoined Twins

Pallister Killian Syndrome
Pediatric Hospice
Pediatric Paliative Care
Pena-Shokeir Syndrome
Pentalogy of Cantrell
Percutaneous Umbilical Blood Sampling (PUBS)
Pericardial Effusion
Perinatal Hospice
Perinatal Loss
Perinatal Palliative Care
Perinatal Period
Pleural Effusion
Polycystic Kidney Disease
Polyhydramnios
Porencephaly
Positive Predictive Value
Potter Syndrome
Pregnancy Continuation
Pregnancy Loss
Pregnancy Termination
Prenatal Diagnosis
Pulmonary Hypoplasia

Recurrence Rate
Recurrence Risk
Renal Agenesis

Sacrococcygeal Teratoma
Schizencephaly
Sex Chromosome Aneuploidy
Short-Rib Polydactyly Syndrome (SRPS)
Single Gene Disorder
Single Umbilical Artery (SUA)
Skeletal Dysplasia
Spina Bifida
Spondylocostal Dysostosis (SCD)

Tetralogy of Fallot
Thanatophoric Dysplasia
Total Anomalous Pulmonary Venous Return (TAPVR)
Transposition of the Great Vessels (TGV)
Triploidy
Trisomy 13
Trisomy 18
Trisomy
Turner Syndrome

Ultrasound
Umbilical Cord Cyst

VACTERL
VATER
Ventricular Septal Defect
Ventriculomegaly

X Linked
X Linked Aqueductal Stenosis