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.” [Source]

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A

Achondrogenesis

Agenesis of the Corpus Callosum

Amniotic Band Syndrome

Anembryonic Pregnancy

Aneuploidy Screening

Antenatal Surveillance

Aqueductal Stenosis

Asphyxiating Thoracic Dystrophy (ATD)

Atelosteogenesis Type 2

Atrial Septal Defect

Autosomal Recessive

Autosomal Dominant

Atrioventricular Septal Defect (AVSD)

B

Bladder Exstrophy

Bladder Outlet Obstruction

Body Stalk Anomaly

C

Camptomelic Dysplasia

Cardiac Rhabdomyoma

Carrier Screening

Caudal Regression Syndrome

Chiari Malformation

Cloacal Anomaly

Chorionic Villus Sampling (CVS)

Choroid Plexus Cyst

Chromosomal Deletion

Chromosomal Duplication

Chromosomal Translocation

Congenital Chylothorax

Congenital Heart Defect

Congenital High Airway Obstruction Syndrome (CHAOS)

Congenital Scoliosis

Craniopagus Conjoined Twins

Criss-Cross Heart

Cyanotic Heart Disease

Cytomegalovirus (CMV)

D

Dandy Walker Malformation and Variant

Diaphragmatic Hernia

Double Outlet Right Ventricle

Dysplastic Kidney

E

Ebstein Anomaly

Echogenic Intracardiac Focus (EIF)

Ellis-Van Creveld Syndrome

Epignathus Teratoma

Ex Utero Intrapartum Treatment (EXIT procedure)

F

Fetal Akinesia Deformation Sequence (FADS)

Fraser Syndrome

G

Genetic Counseling

H

Holoprosencephaly

Hydranencephaly

Hydrops Fetalis

Hypoplastic Left Heart (HLH)

I

Intrauterine Fetal Demise

Intrauterine Fetal Growth Restriction (IUGR)

Intrauterine Fetal Shunt

Intrauterine Fetal Surgery

Intrauterine Fetal Transfusion

J

K

Klippel-Feil Syndrome (KFS)

L

Lethal Chromosomal Aneuploidy

Lethal Congenital Contracture Syndrome 1 (LCCS)

M

Magnetic Resonance Imaging (MRI)

Maternal Age-Related Risk

Maternal Serum Screening

Meckel-Gruber Syndrome

Meningomyelocele

Microarray (CMA)

Mirror Syndrome

Molar Pregnancy

Multicystic Dysplastic Kidney

Myelomeningocele

N

Neonatal Period

Neural Tube Defect

Non Invasive Prenatal Screening (NIPT)

Non Invasive Prenatal Testing (NIPT)

Nonviable Pregnancy

Nuchal Fold Thickening

Nuchal Translucency (NT)

O

Oligohydramnios

Omphalocele Exstrophy-Imperforate Anus-Spinal Defect Complex (OEIS)

Osteogenesis Imperfecta

Omphalopagus Conjoined Twins

P

Pallister Killian Syndrome

Pediatric Hospice

Pediatric Paliative Care

Pena-Shokeir Syndrome

Pentalogy of Cantrell

Percutaneous Umbilical Blood Sampling (PUBS)

Pericardial Effusion

Perinatal Hospice

Perinatal Palliative Care

Perinatal Period

Pleural Effusion

Polycystic Kidney Disease

Positive Predictive Value

Potter Syndrome

Pregnancy Continuation

Pregnancy Termination

Prenatal Diagnosis

Pulmonary Hypoplasia

R

Recurrence Rate

Recurrence Risk

S

Sacrococcygeal Teratoma

Sex Chromosome Aneuploidy

Short-Rib Polydactyly Syndrome (SRPS)

Single Gene Disorder

Single Umbilical Artery (SUA)

Skeletal Dysplasia

Spondylocostal Dysostosis (SCD)

T

Tetralogy of Fallot

Thanatophoric Dysplasia

Total Anomalous Pulmonary Venous Return (TAPVR)

Transposition of the Great Vessels (TGV)

Turner Syndrome

U

Umbilical Cord Cyst

V

Ventricular Septal Defect

Ventriculomegaly

X

X Linked Aqueductal Stenosis