Curriculum Vitae

Personal Details
Name Ziske Maritska, MD, Msi.Med.
Address Jl. Darmapala no. 58 Palembang 30139
Phone +62 812 24 80 11 00
E-mail ziske_kamil@yahoo.com

Education
2001-2007 Medical Doctor (Sriwijaya University)
2012-2014 Biomedical Science Majoring in
Genetic Counselling (Diponegoro University)
March – August 2013 Fellow and research student
at KK Hospital, Singapore
 PLENO LECTURE
Scenario B Block 4 Year 2016

A Glance on
Spina Bifida
Ziske Maritska, MD, Msi.Med.
 Every parent
wants
a perfect baby
 Understanding
the causes and
pathogenesis of congenital
anomalies
help parents reduce
the myths, fear and guilt
often associated with the
anomalies
Outline

The importance of spina bifida

Causes

Pathophysiology

Diagnosis, Screening and Prevention

Recurrence Risk
Outline

The importance of spina bifida

Causes

Pathophysiology

Diagnosis, Screening and Prevention

Recurrence Risk
What is Spina Bifida?

A birth defect in which

the vertebral column is
open, often with spinal
cord involvement.
 The Importance of Spina Bifida

1 in 1,000 births
140,000 cases per year world wide
Race and geographical region predilection
High mortality and morbidity

http://www.cdc.gov/features/birth-defects-day/
http://www.who.int/mediacentre/factsheets/fs370/en/
 The Importance of Spina Bifida

Level 2 SKDI 2012

Mampu membuat diagnosis klinik berdasarkan
pemeriksaan fisik dan pemeriksaan-pemeriksaan
tambahan yang diminta oleh dokter (misalnya :
pemeriksaan laboratorium sederhana atau X-ray).
Dokter mampu merujuk pasien secepatnya ke spesialis
yang relevan dan mampu menindaklanjuti
sesudahnya.

http://www.cdc.gov/features/birth-defects-day/
http://www.who.int/mediacentre/factsheets/fs370/en/
Outline

The importance of spina bifida

Causes

Pathophysiology

Diagnosis, Screening and Prevention

Recurrence Risk
 What causes Spina Bifida?

60-70% Genetic predisposition

Maternal Diabetes
Obesity Multifactorial
Drugs and supplements
inheritance
(use of valproic acid and lack of folic acid)
Physical agents
(hyperthermia, X-ray radiation)

http://www.who.int/mediacentre/factsheets/fs370/en/
Kumar P, Barton BK. Congenital Malformations: Evidence-Based Evaluation and Management. McGraw-Hill. 2008
Types of Spina Bifida
Outline

The importance of spina bifida

Causes

Pathophysiology

Diagnosis, Screening and Prevention

Recurrence Risk
 Spina Bifida: Pathophysiology
Single Abnormality

Malformation
Malformation
Disruption
Disruption
Deformation
Deformation
Dysplasia
Dysplasia

Turnpenny P, Ellard S. Emery’s Elements of Medical Genetics. 12th Ed. Elsevier.

2007.
Medical Embryology Langman.
 Malformation

Intrinsically abnormal
developmental process;

Occurring early in pregnancy

Mostly multifactorial inheritance

Examples:
polydactyly, cleft lip, heart defects,
anal atresia, spina bifida

Medical Embryology Langman.

Hunt KS. Gale Encyclopedia of Genetic Disorders 2. Gale Group.
Resume
Outline

The importance of spina bifida

Causes

Pathophysiology

Diagnosis, Screening and Prevention

Recurrence Risk
 Diagnosis,Prognosis
Diagnosis, Prognosis
andPrevention
and Prevention

Prenatal Diagnosis
Measurement of α-fetoprotein in maternal blood
USG evaluation on 12th week gestation

Medical Embryology Langman.

 Diagnosis, Prognosis
and Prevention

Survival rate depends on the location of spinal lesion

20% patients with lesions above T11 survive to 40 yo

60% patients with lesions below L3 survive to 40 yo

Medical Embryology Langman.

 Diagnosis, Prognosis
and Prevention

Folic acid supplementation

before and during pregnancy
(0.4 mg per day  reduces the risk of non-syndromic
NTDs up to 50-70%)

Medical Embryology Langman.

 Recurrence Risk

Risk of spina bifida rises by 3-10% after an

affected pregnancy

Medical Embryology Langman.

Take Home Message

Quite commonly found

High mortality and morbidity

Can be prevented, early detected and

treated
References
1. Jones KL. Smith’s recognizable patterns of human
malformation. 6th edition, Saunders, Philadelphia, 2006.
2. Special issue of Am J Med Genet, 149A(1), January 2009;
Elements of morphology : standard terminology.
3. Hunt KS. Gale Encyclopedia of Genetic Disorders 2. Gale
Group. 2002
4. Kumar P, Barton BK. Congenital Malformations:
Evidence-Based Evaluation and Management. McGraw-
Hill. 2008
5. Turnpenny P, Ellard S. Emery’s Elements of Medical
Genetics. 12th Ed. Elsevier. 2007.
6. TW Saddler. Langman’s Medical Embryology. 10th
Edition. 2006
7. Christianson A, Howson CP, Modell B. March of Dimes:
Global Report on Birth Defects. White Plains. 2006