Anencephaly is a defect in the formation of a baby’s neural tube during development. A baby born with anencephaly might be stillborn or survive only a few hours to a few days after birth.
Meckel syndrome (also known as Meckel–Gruber Syndrome, Gruber Syndrome, Dysencephalia Splanchnocystica) is a rare, lethal, ciliopathic, genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations (occipital encephalocele), polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios.
Trisomy 13 is a genetic disorder that your baby gets when she has an extra 13th chromosome. In other words, she has three copies of her chromosome 13 when she should have just two. It happens when cells divide abnormally during reproduction, and create extra genetic material on chromosome 13.
Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by the presence of all, or part of a third copy of chromosome 18. Many parts of the body are affected. Babies are often born small and have heart defects. Other features include a small head, small jaw, clenched fists with overlapping fingers, and severe intellectual disability.
A chromosome abnormality, disorder, anomaly, aberration, or mutation is a missing, extra, or irregular portion of chromosomal DNA. It can be from an atypical number of chromosomes or a structural abnormality in one or more chromosomes. Chromosome mutation was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one gene. A karyotype refers to a full set of chromosomes from an individual that can be compared to a “normal” karyotype for the species via genetic testing. A chromosome anomaly may be detected or confirmed in this manner. Chromosome anomalies usually occur when there is an error in cell division following meiosis or mitosis. There are many types of chromosome anomalies.
We do not have a list specifically for the terminal diagnoses that we offer this opportunity to because there are so many terminal fetal diagnoses.