OUTLINE OF ANENCEPHALY A. Origin of Anencephaly A.1 Definition A.2 Overview A.3 Causes B. Signs of Anencephaly B.

1 Signs and symptoms B.2 Risk factors C. Prevention for Anencephaly C.1 Diagnosis Through: C.1.1 Alpha-fetoprotein C.1.2 Amniocentesis C.1.3 Ultrasound C.1.4 Blood test

ANENCEPHALY
A. ORIGIN OF ANENCEPHALY A.1 Definition Anencephaly is a cephalic disorder that results the absence of a major portion of the brain, skull or scalp. It is a condition present at birth that affects the formation of the brain and the skull bones that surround the head. Often, the brain lacks part or the entire cerebrum (the area of the brain that is responsible for thinking, vision, hearing, touch and movement). There is no bony covering over the back of the head and there may also be missing bones around the front and sides of the head. A.2 Overview Anencephaly is classified as a neural tube defect (NTD), and that term refers to the incomplete development of the brain, spinal cord, and/or their protective coverings. The neural tube is a narrow sheath that is supposed to fold and to close in the third or fourth weeks of pregnancy, in order to form the brain and spinal cord of the embryo. In the United States, approximately 1,000 to 2,000 babies are born with anencephaly each year. Female babies are more likely to be affected by the disorder. However, this rate does not include fetuses from pregnancies that are terminated or still-born. One recent study tracked the occurrence of anencephaly both at birth and up to 20 weeks gestational age over a 15 year time period. At birth, the prevalence rate was .24 per 1,000 births. Up to 20 weeks, the prevalence rate was .79 per 1,000 pregnancies. Over the 15 year period, these rates remained constant. One possible reason for the decreased prevalence over the last 4 to 5 decades is improved prenatal nutrition, particularly; an increase in the intake of folic acid, which studies suggest reduces the incidence of neural tube defects in general by 19-50%. A.3 Causes The cause of anencephaly is unknown. Anencephaly is usually an isolated birth defect and not associated with other malformations or anomalies. The vast majority of isolated anencephaly cases are multifactorial in their inheritance pattern, implicating multiple genes interacting with environmental agents and chance events. Adequate folic acid consumption during pregnancy is protective against anencephaly. Exposure to agents that interfere with normal folate metabolism during the critical period of neural tube development (up to 6 wk after last menstrual period) increases the likelihood of an NTD. Valproic acid, an anticonvulsant, and other antimetabolites of folic acid have been shown to increase the chance of an NTD when exposure occurs in early development. While these induced NTDs are usually spina bifida, the chance of anencephaly is probably increased as well.

Maternal type 1, or pregestational insulin-dependent diabetes mellitus (IDDM) confers a significant increase in the risk for NTDs, and it also delays production of alpha-fetoprotein (AFP) during pregnancy. Maternal hyperthermia has been associated with an increased risk for NTD; therefore, pregnant women should avoid hot tubs and other environments that may induce transient hyperthermia. Similarly, maternal fever in early gestation also has been reported as a risk factor for anencephaly and other NTDs. Anencephaly may be associated with the unbalanced form of a structural chromosome abnormality in some families. In these cases, other malformations and birth defects that are not usually found in isolated cases of anencephaly may be present. Amniotic band disruption sequence is a condition resulting from rupture of the amniotic membranes. This can cause disruption of normally formed tissues during development, including the structures of the head and brain. Anencephaly caused by amniotic band disruption sequence is frequently distinguishable by the presence of remnants of the amniotic membrane. Recurrence risk for anencephaly caused by this mechanism is lower and the risk is not modified by the use of folic acid.

B. Signs of Anencephaly B.1 Signs and Symptoms Infants born with anencephaly are usually blind, deaf, unconscious and unable to feel pain. Although some individuals with anencephaly may be born with a rudimentary brainstem, which controls autonomic and regulatory function, the lack of a functioning cerebrum is usually thought of as ruling out the possibility of ever gaining consciousness, even though it has been disputed specifically. Physical signs of anencephaly are absence of bony covering over the back of the head, missing bones around the front and sides of the head, folding of ears, cleft palate (a condition in which the roof of the childs mouth does not completely close, leaving an opening that can extend into the nasal cavity, congenital heart defects and some basic reflexes such as breathing and responses to sound or touch may occur. But without the cerebrum, there can be no consciousness and the baby cannot survive. The symptoms of anencephaly may resemble other problems or medical conditions. B.2 Risk Factors Some studies suggest that certain risk factors appear to have greater impact among populations with higher background rates for NTDs than among populations with lower background rates (Little and Elwood, 1991). Also, the etiology of NTDs is very heterogeneic, with the impact of a given

risk factor varying by the types of NTD and the presence or absence of other defects (Holmes et al., 1976; Khoury et al., 1982; Sever, 1995). The neural tube closes by approximately the 28th day of gestation (Campbell et al., 1986; Lemire, 1988), so any potential exposures suspected to have caused an NTD would have to have occurred within the first month of gestation. Also studies show that a woman, who has had one child with a NTD such as anencephaly, has about a 3% risk to have another child with a NTD. C. Prevention for Anencephaly C.1 Diagnosis Diagnostic tests performed during pregnancy to evaluate the baby for anencephaly include the following: C.1.1 Alpha-fetoprotein A protein produced by the fetus that is excreted into the amniotic fluid. Abnormal levels of alpha-fetoprotein may indicate brain or spinal cord defects, multiple fetuses, a miscalculated due date, or chromosomal disorders. C.1.2 Amniocentesis A test performed to determine chromosomal and genetic disorders and certain birth defects. The test involves inserting a needle through the abdominal and uterine wall into the amniotic sac to retrieve a sample of amniotic fluid. C.1.3 Ultrasound (also called sonography) A diagnostic imaging technique that uses high-frequency sound waves and computer to create images of blood vessels, tissues and organs. Ultrasounds are used to view internal organs as they function, and to assess blood flow through various vessels. C.1.4 Blood tests A laboratory analysis performed on a blood sample that is usually extracted from an arm vein using a syringe, or via fingerprick. It is used to determine physiological and biochemical states such as disease, mineral content, drug effectiveness, and organ function. The diagnosis of anencephaly may be made during pregnancy or at birth by physical examination. The baby's head often appears flattened due to the abnormal brain development and missing bones of the skull. But there are many false diagnoses for anencephaly, as it is not a common diagnosis, often confused with exencephaly or microcephaly. Genetic counseling may be recommended by the physician to discuss the risk of recurrence in a future pregnancy as well as vitamin therapy (a prescription for folic acid) that can decrease the recurrence for ONTDs. Extra folic acid, a B vitamin, if taken one to two months prior to conception and

throughout the first trimester of pregnancy, has been found to decrease the reoccurrence of ONTDs, for couples who have had a previous child with an ONTD. Documentation:

Diagnosis:

Side View of Anencephaly

How blood test is performed

How Amniocentesis and ultrasound is performed

Face of an Anencephaly babies in an ultrasound

Reference: http://en.wikipedia.org/wiki/Anencephaly http://www.ninds.nih.gov/disorders/anencephaly/anencephaly.htm http://www.healthsystem.virginia.edu/UVAHealth/peds_neuro/anenceph.c fm http://www.webmd.com/brain/anencephaly-10725 http://neurologychannel.com/cephalicdisorders/ http://www.dshs.state.tx.us/birthdefects/risks/risk7-NTDS.shtm http://www.emedicine.com/neuro/topic639.htm