# Handbook of Genetic Counseling/Anencephaly

Anencephaly

## Introduction

* Introduce myself
* Ask how she is, what she knows, what questions she has. Ask if there is anyone she wants to be with her as she hears information about the baby.

## Contracting

* Go over a few of the things we talked about on the phone: pregnancy and family history
* Talk about what the ultrasound findings mean
* Talk about the amniocentesis
* Talk about other options
* Along the way, I want to make sure we answer all the questions you may have.

## Basic info. on Anencephaly

* write it down
* Introduce it through the words of the doctor: absence of the cranial vault.
* Definition: without brain. There's been a problem in the development of the brain structures. There is an absence of the bones that form the cranial vault (the part that covers our brain)and in the formation of the actual parts of the brain themselves. So what you feel when you put your hand on top of your head is not there. The skin is not there nor is the bony part. Only exposed brain or nothing at all.
* Incidence: gets lumped in with the Neural tube defects: spina bifida too = 1/1000
* Recurrence risks: for having another child once a sibling has it = 2.2% (Hall and Solehdin 1998). Most people quote a 3-5% risk.
* Females are affected 4 times more often than males
* Related abnormalities associated with anencephaly (PROBABLY NOT USED IN COUNSELING UNLESS THE FINDINGS ARE MADE) - just mention the starred ones.
** broad nose
** folded ears
** short neck
** large thymus
** small adrenal glands
** often polyhydramnios
** lungs are hypoplastic *
** can have Cleft lip and palate
** cyclopia
** syndactyly
** absent radius and thumbs
** clubfoot
** imperforate anus
** hernia
** renal and cardiac anomalies*

## Etiology of Anencephaly

* During the 3rd week after conception the neural folds start to form into what is going to become the spinal cord and the brain. It starts in a central area and then follows particular steps until the entire length of the cord is closed by the 4th week. (the is the 1st and 2nd week after your last menstrual period.) Once it is closed, the brain starts to form all of its distinct parts.
* Anencephaly is the result of the failure of the anterior neuropore (upper area of the first portion of the spinal column) to close properly. Failure to close = degeneration of the already forming forebrain.

## Causes of Anencephaly

* Multifactorial - 70-80% (combination of genetic factors and the environment) WE DON'T REALLY KNOW exact causes.
* Single gene changes ex = Meckle Gruber syndrome (will have additional ultrasound anomalies)
* Chromosomal changes = ex. Trisomy 18, 5p+, ring 13, Trisomy 20p - detectable by amniocentesis
* Teratogens
** hyperthermia
** insulin dependent diabetes
** seizure disorder medications = Tegretol, valproic Acid (usually associated with SB)
** Exposures to lead
** Lack of folic acid

## Diagnosis

* High AFP from triple screen leads to an ultrasound
* Ultrasound finding is typically the absence of the cranial vault can be done early in 2nd trimester. (>99%) You can still see an outline of the brain but by 17 weeks, it has deteriorated because of exposure to amniotic fluid.
* You can see it as early as 11 weeks. the brain has a weird outline, abnormally shaped.
* Amniocentesis with AchE if desired. (>99%)
==Prognosis==
* Poor prognosis
* ~26% have polyhydramnios during the pregnancy.
* ~7% die in utero.
* ~34% are born prematurely.
* ~50% make it to term.
* ~20% of deliveries end in stillbirth.
* ~72% are liveborn.
* Out of the liveborn babies, ~67% die within 24hrs and most of them do not survive past 28 days.

## Options

* Termination by D&E (Dilatation and Evacuation)
** Can be done up to 24 weeks legally. (Up to 21 weeks here at Univ.)
** Cost - in hospital = $2500, clinic = less money
** Have to give pamphlet - WARN HER IF THIS IS SOMETHING SHE WANTS. Remind her that these are pictures of a healthy baby, not what her baby looks like.
** First step is going in and talking to the doctor
** Next step is getting lamineria (seaweed dried that will dialate the cervix) = cramping
** Go Home
** Come back into office get general anesthesia
** Take out laminaria
** Use tubes to finish dilating
** Suction out amniotic fluid
** Use forceps to cut umbilical cord
** Pull out fetal parts
** Scrape out remainder.
** Benefits: quick!! Takes only 30sec-5min., outpatient basis, no impact on future fertility.
** Disadvantages: can't hold or see baby as a baby, no autopsy possible
** Complications possible: death, hemorrhage, tear in uterus, infection leading to septic shock
** Ideas: get ultrasound pictures, name baby, keep a journal, write a letter to the baby, make a memorial/service to the baby
* Termination by induction
** Between 13-24th week
** First meet with doctor and see book
** Lamaria will be placed, go home
** Enter hospital and start IV
** Given prostaglandin either suppositories every 3-4 hours, injection into amniotic fluid, or intramuscularly to start uterine contractions. (causes flu like symptoms)
** Takes 10-20 hours or up to 72 (you are going into labor)
** You are on the floor with other families delivering healthy babies (nurses attitudes may be different.)
** You have to deliver placenta right after = may need curettage suction. = you may not get to hold the baby right away.
** Benefits: you get to see and hold your baby in one piece.
** Disadvantages: not easy to get done, takes a long time, baby may be alive when you deliver it.
** Ideas: pictures, baptism, autopsy, footprints, memorial service, other family members can see the baby.
** Resource: Hand out: We've Been There, Support for Prenatal decision
* Things to consider after termination
** Breast milk may come = wear a tight bra and apply cold compresses.
** Bleeding for 1-2 weeks after delivery and mild cramping. You should rest for a week.
** A Time to Decide, A Time to Heal - for parents making difficult decisions about babies they love by Molly Minnick, Kathleen Delp, Mary Ciotti
* Maintain pregnancy
** Keep a watch on pregnancy...polyhydramnios may be present
** Prepare for intermittent periods of stable cardiorespiratory function. (a lot of up and down)
** Prepare family members
** Contact Starshine Hospice?
** Contact Fernside for son?
** Prepare funeral arrangements (in hospital/out of hospital)
** Good resource is: 1-888-206-7526 - Anencephaly support group
** Good resource: Your baby has a problem by Janet Ulm and Vickie Hannig
** Good resource is:
    Maria La Fond: President, Abiding Hearts, found at P.O. Box 904 Libby, MT 59923 PH: 406-293-4416 FAX:406-587-7197 E-mail: hearts@lclink.
** Resources to help make the decision
** Two parents, who had to make the decision, Ms. Fredis chose to terminate, Ms. Crabbis chose to maintain. Here are their phone numbers if you would like to talk with them.
** Family members, husband, church, etc.
** Counseling issues
* How are you feeling right now?
* Support systems
* Things you will want to think about:
** After the death, funeral issues
** Can you get time off work?
** Monetary expenses
* Go home and discuss with your husband. Think about it and give me a call back. If I haven't heard from you in a week, I will call you to check back in.
* How will you tell your family?
* How will you tell your friends/people who knew you were pregnant?
* Grief issues: feelings of guilt, anger, suicide, sadness, etc. Refer to counseling if necessary.

## Notes

The information in this outline was last updated in 2000.
* ↑ Jaquier, M., Klein, A., & Boltshauser, E. (2006). Spontaneous pregnancy outcome after prenatal diagnosis of anencephaly. BJOG: An International Journal of Obstetrics & Gynaecology, 113(8), 951-953.