Life Limiting Fetal Diagnosis
Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible.[1] These may be anatomic and physiologic problems with the health of the zygote, embryo, or fetus, either before gestation even starts (as in preimplantation genetic diagnosis) or as early in gestation as practicable. Screening can detect problems such as neural tube defects, chromosome abnormalities, and gene mutations that would lead to genetic disorders and birth defects, such as spina bifida, cleft palate, Downs Syndrome, Tay–Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, muscular dystrophy, and fragile X syndrome. Some tests are designed to discover problems which primarily affect the health of the mother, such as PAPP-A to detect pre-eclampsia or glucose tolerance tests to diagnose gestational diabetes. Screening can also detect anatomical defects such as hydrocephalus, anencephaly, heart defects, and amniotic band syndrome.
Prenatal screening focuses on finding problems among a large population with affordable and noninvasive methods. Prenatal diagnosis focuses on pursuing additional detailed information once a particular problem has been found, and can sometimes be more invasive. The most common screening procedures are routine ultrasounds, blood tests, and blood pressure measurement. Common diagnosis procedures include amniocentesis and chorionic villus sampling. In some cases, the tests are administered to determine if the foetus will be aborted, though physicians and patients also find it useful to diagnose high-risk pregnancies early so that delivery can be scheduled in a tertiary care hospital where the baby can receive appropriate care.
Prenatal testing in recent years has been moving towards non-invasive methods to determine the fetal risk for genetic disorders. The rapid advancement of modern high-performance molecular technologies along with the discovery of cell-free fetal DNA (cffDNA) in maternal plasma has led to new methods for the determination of fetal chromosomal aneuploidies. This type of testing is referred to as non-invasive prenatal testing (NIPT). Invasive procedures remain important, though, especially for their diagnostic value in confirming positive non-invasive findings and detecting genetic disorders.[2]
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)
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)
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