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Fetal abnormalities are conditions that affect a fetus or embryo, are able to be diagnosed prenatally, and may be fatal or cause disease after birth. They may include aneuploidies, structural abnormalities, or neoplasms. Acardiac twin; Achondrogenesis; Achondroplasia
Birth defect is a widely used term for a congenital malformation, i.e. a congenital, physical anomaly that is recognizable at birth, and which is significant enough to be considered a problem.
Caudal regression syndrome, or sacral agenesis (or hypoplasia of the sacrum), is a rare birth defect. It is a congenital disorder in which the fetal development of the lower spine—the caudal partition of the spine—is abnormal. [1] It occurs at a rate of approximately one per 60,000 live births. [2]
fetal infections (maternofetal infections) genetic causes (or intrinsic causes) (genetic malformative diseases) chromosomal anomalies (chromosomal malformative diseases) numerical chromosomal anomalies (e.g. trisomy 13, trisomy 18, trisomy 21) structural chromosomal anomalies microdeletions (microdeletion syndromes) chromosomal rearrangements
There are three purposes of prenatal diagnosis: (1) to enable timely medical or surgical treatment of a condition before or after birth, (2) to give the parents the chance to abort a fetus with the diagnosed condition, and (3) to give parents the chance to prepare psychologically, socially, financially, and medically for a baby with a health problem or disability, or for the likelihood of a ...
Maternal–fetal medicine (MFM), also known as perinatology, is a branch of medicine that focuses on managing health concerns of the mother and fetus prior to, during, and shortly after pregnancy. Maternal–fetal medicine specialists are physicians who subspecialize within the field of obstetrics. [1]
Dysmorphic features can vary from isolated, mild anomalies such as clinodactyly or synophrys to severe congenital anomalies, such as heart defects and holoprosencephaly. In some cases, dysmorphic features are part of a larger clinical picture, sometimes known as a sequence, syndrome or association. [2]
This category reflects the organization of International Statistical Classification of Diseases and Related Health Problems, 10th Revision. Generally, diseases outlined within the ICD-10 codes Q00-Q99 within Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities should be included in this category.