DR.

SASHMI MANANDHAR DEPARTMENT OF OBSTETRICS/GYNAECOLOGY

MODERATOR DR. SUMAN RAJ TAMRAKAR

10/01/2012

NEURAL TUBE DEFECTS ANENCEPHALY

CASE PRESENTATION INTRODUCTION EPIDEMEOLOGY ETIOPATHOGENESIS CLINICAL FEATURES INVESTIGATIONS DIFFERENTIAL DIAGNOSIS COMPLICATIONS TREATMENT PREVENTION PROGNOSIS
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OPEN
Entire CNS Failure of primary

CLOSED
Confined to spine Defect in secondary

neurulation Neural tissue exposed with associated spinal fluid leakage Eg: Anencephaly, Cephalocele, Spina Bifida
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neurulation Neural tissue not exposed, defect epithelized, skin covering may be dysplastic

CRANIAL

SPINAL
Spina bifida aperta

Anencephaly
Encephalocele

(meningocele or meningomyelocele) Craniorachischisis totalis

(cystica) Myelomeningocele Meningocele Myeloschisis Congenital dermal sinus Lipomatous malformations (lipomyelomeningoceles) Split-cord malformations Diastematomyelia Diplomyelia Caudal agenesis
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23 yrs, G1 @ 42 (+2) WOG C/O:

Cessation of menstruation for 9 months

Pain abdomen (-)

PV leaking (-) PV bleeding (-) Perceiving fetal movement (+)

ANC : Supervised pregnancy in Health Post

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EXAMINATION:
GC: Fair PER ABDOMEN:
Uterus: >Period of Gestation Lie: Longitudinal Presentation: ? Cephalic FHR: 128/min

Vitals: Stable

PER VAGINUM:
Os: Closed Eff: Uneffaced Pelvis: Doubtful
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INVESTIGATIONS:
Hematology: Within Normal

ULTRASOUND:
AFI: 15.7 cm

Limit Urine Routine: Within Normal Limit Serology: Non Reactive RBS: 102 mg/dl

(Polyhydramnios) EFW: 3000 gms Placenta: Fundal and Posterior Presentation: Breech Fetal Calvarium poorly visualized Brain and face partially seen Stomach bubble not seen Cardiac Activity: Present Gestational Age: 37 - 38 weeks Features s/o ANENCEPHALY
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DIAGNOSIS
G1 @ 42 (+2) WOG with

PLAN:
Induction of labour

Anencephaly, Polyhydramnios with Breech presentation

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MANAGEMENT:
Counselling done to the lady and her husband Risk factors during labour explained

Consent for induction taken

Medications: Tab Misoprost 50 microgram 6 hrly (total 3 doses) Sedation: Inj. Pethidine Antibiotics: Inj. Ampicillin, Inj. Metronidazole Others: Cap Iron, Tab Folic Acid
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PROGRESSION OF LABOUR:
No initiation of labour even after 3rd dose of Misoprost Foleys catheter # 16 inserted into the os, inflated

with 15 ml distilled water Inj. Syntocinon 5 U in 1 pint RL started in titrating dose Slow progression: Os dilatation upto 9 cms No progression further for 7 hours Fetal Heart Sound not heard Planned for Em. LSCS in view of NPOL after counselling the patients party

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OUTCOME OF LSCS:
Single Dead Birth Weight: 2.9 kg Abnormalities:
Absence of Calvaria Cleft Lip and Palate Ill formed left eye No associated spinal defect

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POST OPERATIVE PERIOD:

IV antibiotics for 24 hours Lactation suppression with Cabergoline

Sedation with Alprazolam

On 3rd Post Operative Day

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Open neural tube defect Grossly malformed brain and cranial vault Cerebrum and cerebellum: Reduced or absent Hindbrain: Present Complete/partial absence of forebrain, meninges, skull and skin
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WORLDWIDE
Guatemala, Northern China, Mexico, parts of the

United Kingdom Females > Males (3.7:1) 1 case per 1000 pregnancies (In USA) 1 case per 100 pregnancies (In British Isles)

DHULIKHEL HOSPITAL:
4 cases (September 2011 September 2012)
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ETIOLOGY: Multifactorial (Genetics + Environmental)

Inadequate folic acid Genetics
Methylenetetrahydrofolate reductase (MTHFR) associated with the risk of NTDs Membrane-associated signaling complex protein called VANGL1, associated with the risk of neural tube defects [Kibar Z, Torban E, McDearmid JR, Reynolds A, Berghout J, Mathieu M. Mutations in VANGL1 associated with neural-tube defects. N Engl J Med. Apr 5 2007]

Valproic acid, Methotrexate IDDM Maternal hyperthermia

Maternal hyperthermia in early pregnancy is associated with increased risk for neural tube defects [Maternal hyperthermia and the risk for neural tube defects in offspring:
systematic review and meta-analysis; Moretti ME, Bar-Oz B, Fried S, Koren G]

Amniotic band disruption sequence

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Day

PATHOGENESIS
Event
Neural plate arises Neural plate invaginates along the embryonic midline to form the neural groove Closure of neural groove at cranial end Closure of neural groove at caudal end

18 days after fertilization 4th week

24 days 26 days

Disruptions of the normal closure process give rise to NTDs Anencephaly results from failure of neural tube closure at the cranial end of the developing embryo
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The National Institute of Neurological Disorders and Stroke (NINDS) describes the presentation of this condition as follows:
"A baby born with anencephaly is

usually blind, deaf, unconscious, and unable to feel pain. Although some individuals with anencephaly 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.
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Absence of the cranial vault and portions of the cerebrum and cerebellum Facial structures: Generally present and appear relatively normal Cranial lesion occasionally covered by skin Stillborn (50%), if not will die few hours/days after birth A/W Spina Bifida, Facial and Nasal clefts, cephalocele
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LABORATORY:
Maternal serum alpha-fetoprotein (MSAFP)

screening
Second trimester of pregnancy Screening tool

Amniotic alpha-fetoprotein (AFAFP) Late first trimester and second trimester Diagnostic biochemical test.

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IMAGING: Ultrasound
10 weeks: Fetal skull

development 1st detection: Brain irregular with floppy outline 10 14 weeks: Brain tissue is half way through
Mickey Mouse Sign

17 weeks: Whole brain except

intracranial vessels outside Facial and brain stem structure persists

Frog Eye Appearance

Polyhydramnios
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When suspicious of Anencephaly

Cervical Spine shortening/Rachischiasis Myelomeningocele

Diaphragmatic hernia
Hydronephrosis Cleft lip, palate Cardiac malformations Amniotic band
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Large encephalocele Microcephaly Iniencephaly

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DURING PREGNANCY:
Polyhydramnios Preterm labour

Post term pregnancy

Abnormal fetal presentations (Breech, Face) Shoulder dystocia Obstructed labour

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Because anencephaly is a lethal condition, heroic measures to extend the life of the fetus are contraindicated.
PREGNANCY CARE:
Medical Termination of Pregnancy Mode of delivery: Vaginal CS: Contracted Pelvis, Placenta Previa, Congenital Anomaly of Uterus

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CONSULATIONS:
DIET:
Genetic counselors Psychiatrist

PLAN FOR FUTURE PREGNANCY:

No conception for at least 3 months Folic acid supplementation at least 3 months prior to

Folic Acid Supplementation Folate rich food

future pregnancy

0.4 mg Folic acid decreases the risk of NTDs by 80 %

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Folic acid supplementation

4 mg daily, beginning at least 3 months prior to

conception For all other women and girls of reproductive age, regardless of family history, 0.4 mg (or 400 mcg) per day

Folic acid has been shown to be an efficacious preventive agent that reduces the potential risk of anencephaly and other NTDs by approximately two thirds [Botto LD, Moore CA, Khoury MJ, Erickson JD. Neural-tube defects. N Engl J Med. Nov 11 1999]
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A woman who has had one child with a neural tube defect such as anencephaly has about a 3% risk of having another child with a neural tube defect
[Cowchock, S; Ainbender, E; Prescott, G; Crandall, B; Lau, L; Heller, R; Muir, WA;
Kloza, E et al. (1980). "The recurrence risk for neural tube defects in the United States: A collaborative study". American Journal of Medical Genetics 5 ]

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Williams Obstetrics, 23 rd Edition High Risk Pregnancy, 4th Edition Text Book Of Obstetrics, Dutta www.emedicine.com www.wikipedia.com

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Finding out that you are pregnant can be one of the happiest moments of your life but just think if at your first scan you were told that your child has a fatal condition that isn't compatible with life outside the womb???

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