Health Awareness blog

Anencephaly is a group of malformations of the central nervous system known as neural tube defects. It is a  disorder of the head (cephalic). It occurs when the cephalic end of the neural tube fails to close. The process happens between the 23rd and 26th day of the pregnancy. This will result to the absence of a major portion of the brain, skull, and scalp. The affected fetus will be born without a forebrain (the largest part of the brain consisting mainly of the cerebral hemispheres). The remaining brain tissue is often exposed (not covered by bone or skin). In the United States, approximately 1 out of 1,000 to 2,000 babies are born with anencephaly each year. From the studies made, female babies are more likely to be affected. In approximately 10% of cases, other malformations coexist with anencephaly.

Presentation

The National Institute of Neurological Disorders and Stroke (NINDS) describe the presentation of this condition as follows:

• post delivery, the affected baby usually blind, deaf, unconscious, and unable to feel pain
• Some affected fetus may be born with a main brain stem. The lack of a functioning cerebrum permanently rules out the possibility of ever gaining consciousness.
• Reflex actions such as breathing and responses to sound or touch may occur for a limited period.

Diagnosis

• Antenatally, it can be diagnosed by ultrasound examination – detailed fetal ultrasound is useful
•  Maternal serum alpha-fetoprotein (AFP screening) – The level of alpha-fetoprotein in the maternal blood is elevated because of the leakage of this fetal protein into the amniotic fluid

Prognosis

The only treatment for these babies are tender, loving and care. We only provide nutrition, hydration and comfort. No active resuscitation done. Artificial ventilation, surgery and drug therapy regarded as futile efforts. Some clinicians and medical ethicists will take nutrition and hydration as medically futile. I myself think that we should do anything for the comfort of the babies before nature takes place as long as no harm is done. There is no cure for this type of disorder. Most affected babies do not survive birth (55% of non-aborted cases). Most of the babies are stillborn, others usually die within a few hours or days after birth from cardiorespiratory arrest. The overall prognosis is poor where the fetus usually fatal at birth or soon thereafter.

Causes

The cause of anencephaly is unclear. There is some evidence of inheritance but it does not follow the direct pattern of heredity. From a developmental point of view, there is a direct association between an impairment of the fetus’s swallowing mechanism and the occurrence of anencephaly. The reason for impairment still remain unknown. Studies have shown that a woman who has had one child with a neural tube defect such as anencephaly, has about a 3% risk to have another child with a neural tube defect. Other than that, some medication that is taken by pregnant mother such as insulin and antiepileptic agents increase the risk to have a neural tube defect babies. Anencephaly and other physical and mental deformities have also been blamed on a high exposure to such toxins as lead, chromium, mercury, and nickel.

Preconception counseling

For women that have high risk for having a child with neural tube defect should be offered for genetic counseling. Available testing will be informed. Recent studies have shown that folic acid may reduce the risk of the neural tube defects. Therefore, pregnant women and those who are trying to conceive should take 0.4 mg of folic acid daily because we do not want to miss the critical time of the neural tube formation. The risk can be reduced to 0.03%. For women with previous affected child, higher dosages of folic acid (4 mg/day) may be prescribed by the physician.

Relation to Other Rare Disorders: Genetic Ciliopathy

 As a result of new genetic research, anencephaly is noted to be a part of an emerging class of diseases called “ciliopathies”. The underlying cause may be a dysfunctional molecular mechanism in the primary cilia structures of the cell, organelles which are present in many cellular types throughout the human body. The cilia defects adversely affect “numerous critical developmental signaling pathways” essential to cellular development and thus offer a plausible hypothesis for the often multi-symptom nature of a large set of syndromes and diseases.

Other ciliopathies include:

• primary ciliary dyskinesia
• Bardet-Biedl syndrome
• polycystic kidney
• liver disease
• nephronophthisis
• Alstrom syndrome
• Meckel-Gruber syndrome
• some forms of retinal degeneration

Reference:

1. http://en.wikipedia.org/wiki/Anencephaly
2. Oxford Handbook of Clinical Specialties. 5th edition. 2001.
3. http://www.answers.com/topic/anencephaly

Having your own baby is so special. Every parent will agree with me that pregnancy is never easy. Bringing up one child is difficult. Bringing up twin is often very very difficult. Bringing up triplets is more difficult than anyone can ever imagine. Let’s not start with quadruplet… As interesting as it may sound, let’s have more knowledge about it so you can decide for yourself which one is the best decision when the time comes. If the time still not coming and you really want to get pregnant, don’t worry, if there is a will, there is a way, but we are not discussing it here. I’ll write another article for that.

Multiple pregnancy is a pregnancy where more than one fetus develops at the same time in the womb. The incidence of multiple births in the United States and other developed countries has been steadily increasing with advances in reproductive technologies. The frequency of multiple births in the United States for 2002 was as follows:

• twins, one in 32
• triplets, one in 583
• quadruplets, one in 9,267
• quintuplets and up, one in 58,286

Predisposing factors:

• Previous history of twin pregnancy
• Family history of twins (dizygotic only) – Twinning seems to run in some families, is mainly confined to fraternal (dizygotic twins) and seems to be entirely a property of the mother, not the father. The primary cause is an increased chance of multiple ovulation (a woman releases two or more eggs).
• Increasing maternal age – some researchers have found that women >30 years of age have more chance to have multiple pregnancy.
• High parity – have more previous pregnancy
• Induced ovulation (usually due to treatment that we give to infertility patients – i.e.: clomiphene citrate or Follicle Stimulating Hormone)
• In vitro fertilization and other type of advance reproductive technologies
• Race origin – American and African women have more chance to have multiple fetuses in comparison to other races.

Diagnose:

• Clinical examination – uterus is large for gestational age
• Ultrasound – the main diagnostic test. Nowadays, there are 3-D and 4-D ultrasounds that can see the fetus better. An ultrasound is usually performed early following positive pregnancy test to look for successful implantation and to make sure that it is intra uterine, the multiple gestation would be revealed at that time. Following the birth of multiples, the placenta is carefully examined to determine if they are fraternal or identical. One placenta indicates identical twins.
• Selective fetocide (e.g.: with intracardiac potassium chloride) – can be used if indicated (best used before 20 weeks gestation)
• serial ultrasounds to monitor the growth of the babies 
• amniocentesis may be indicated to check for lung development
• close monitoring is needed for preterm labor

Complications during pregnancy:

• Polyhydramnios (too much amniotic fluid – Amniotic Fluid Index or AFI > 25)
• Pre ecclampsia ( a condition with proteinuria and hypertension) is more common (30% in twin pregnancies, 10% in singletons)
• Anemia (the problem is more common because in multiple pregnancy, iron and folate requirements are increased)
• Antepartum hemorrhage (6% for twins versus 4.7% for singletons) – this is due to placental abruption and placental praevia (in multiple pregnancy, the placenta is larger)
• Multiple pregnancy usually lead to caesarean delivery and the particular pregnant mothers may have complications of surgery as well
• incompetent cervix (cervix opens due to pressure) – this may lead to preterm labor or spontaneous abortion
• preterm labor also more common due to overstretched uterus
• premature rupture of membranes (bag of water) – which also can give rise to many problem like premature labor, chorioamnionitis (inflammation of the placenta) , cross infection to the fetus and may also lead to intrauterine death

Fetal complications:

• Increase increased rate of spontaneous abortion and perinatal mortality
• Prematurity – this is the main problem they might encounter
• Small babies (small for gestational age) – growth rate is equal with singletons up to 24 weeks but become slower there-after)
• intrauterine growth restriction of one or more fetuses
• abnormal fetal presentations which may cause problem during delivery
• Malformations (including conjoined twin) are more common (2-4 times higher rate – especially in monozygotic twins)
• In monozygotic twins, the intermingling blood supply may result in different twin size. One of the might be anemic and the other might be plethoric ( hence later become jaundice baby)
• If one of the fetus die in utero (in uterus), it may become a fetus papyraceous. Later, it will be aborted or delivered prematurely
• rare complications with twins, such as twin-to-twin-transfusion syndrome (one fetus receives more nutrients than the other due to more blood vessels perfusing one baby)

Complications of labor:

• Post partum hemorrhage – excessive per vaginal bleeding followed delivery
• Malpresentation (40% is cephalic/cephalic; 40% is cephalic/breech; 10% is breech/breech; 5% is cephalic/transverse; 4% is breech/transverse; 1% is transverse/transverse)
• Rupture vasa praevia
• Increased incidence of cord prolapse (0.6% singleton, 2.3% twins)

Conclusions

So, you can see that there are so many complications of multiple pregnancy. It can involve either the mother or the fetus (baby), or maybe both. The complications might happen during pregnancy, during delivery or even many years after delivery. Let’s not forget the psychological aspects of both parents and relatives. As fun as it might be, the price is very high. Anything can go wrong, anytime, anywhere. Think wisely and make the best decision for both of you.

Reference: 

1. Oxford Handbook of Clinical Specialties. 5th edition. 2001.
2. http://www.pregnancy.ayurvediccure.com/multiple-pregnancy.html
3. http://www.answers.com/topic/multiple-pregnancy
4. http://www.healthofchildren.com/M/Multiple-Pregnancy.html